MITO HOPE and HELP
MITO HOPE and HELP
Reaching out to individuals living with Mitochondrial Diseases
MY CHILDREN AND MITO - Currently being revised-
I have toyed with the idea of revising my book, MY CHILDREN AND MITO. So much has happened since I published my book, approximately four and a half years ago. As many of you are already aware, we lost my daughter Randi on July 25th 2010 due to complications from mitochondrial disease. With the aid of the daily medical journal, which I began keeping since my children were very young, I will attempt this endeavor. I will need to edit places here and there as I go along. My brain on MITO is mush! This will be more of a rough draft of, "The Final Chapter."
We had pretty much concluded that all of Randi's new intolerance's to certain positions was dysautonomic in origin. We had increased her florinef dose but this had little effect. Finding adaptations and making modifications to manage these very debilitating symptoms was a daily struggle. For whatever reason, she could not tolerate being on her right side, tilting her head back, laying flat or being in a totally upright position for more than a short period of time. If she did any of these things she became violently ill, developed a red blotchy face and neck, either passed out or felt as if she was going to, vomited and was extremely lethargic and unable to move. At times she experienced tachycardia and palpitations with these episodes. We purchased a wheel chair that had a tilt option built in. I also made the decision to renovate our home. Randi's bedroom was upstairs and she couldn't go up and down the stairs unassisted anymore. She needed to use a walker, on wheels, in our home. We named it her "buggy". Randi would decorate her buggy to coincide with the the seasons or special occasions. Since Randi's bedroom was so small we couldn't add things to it or modify it. Financially I didn't know how we were going to pull this off. Several months earlier, I had once again refinanced our home in order to make ends meet. I'd gotten rid of excess monthly debt by consolidating which likely I will never be able to do again given our circumstances. Despite this I decided to just do it! Whenever it comes to my kids I don't think about it, I just do what needs to be done and hope it will all work out! Of course I would have loved to be able to hire someone to do the work but that also wasn't a possibility. The renovations would be a huge undertaking and take me several moths of daily work to complete. Another new problem Randi developed was diarrhea daily. We began trying to figure out the source, as is common place with each and every new symptom that arises. One of our attempts to determine the cause was to remove Randi's daily antibiotic, augmentin. We doubted this since she'd been on augmentin many times in the past. Randi had needed daily antibiotics her entire life basically so there were few if any antibiotics she hadn't used. However, It was questioned if because the route of administration had changed, due to the exclusive j-tube use, if this was to blame. After only 3 days off the antibiotic, not surprisingly given her long standing history of infections and her severe immune deficiencies, another new problem arose. Randi had a full blown j-tube site infection. There was pus oozing from around the site as well as the surgical site which was made to install her j-tube.
Luckily we were in Boston at that time on a medical trip. Her GI doctor sent us immediately to the surgeon's office for him to culture and further advise. They both felt Randi could go septic with this infection. I was not worried. I told them this was not as concerning for me as I know Randi must remain on daily antibiotics or she develops infections. This had always been the case throughout Randi's entire life. I felt that simply restating her antibiotic would resolve the infection. The surgeon took a razor blade and opened the pus pockets so they could drain better and sent us on our way. Simply restarting Randi' s daily antibiotic took care of the infection. We were back to square one. Randi still had daily diarrhea and we were unable to establish if the antibiotic was the cause.
At home we were bonding with our new primary. She was clearly a caring, compassionate individual and good doctor. This was a very welcomed part of our family's medical care.
In fact the bonds were growing stronger and the trust deeper with every interaction we had with our new primary. She made it clear her part in the girls care was not going to be just writing prescriptions and allowing our Boston doctors to make all the decisions. Her commitment and willingness to help was truly amazing. She actually demanded we come in at least once every 2 months for our 2 hour visit, one hour for each girl. Although I felt this was more for her benefit I also realized it was worth it. She promised us she wasn't going anywhere so investing the time would be beneficial in the long run. We had to try to catch her up on the girls past 23-24 years of medical history while she was learning about mito and attempting to deal with the barrage of new problems that were plaguing Randi. The laundry list of Randi's problems was long, complicated and ever growing in severity and number.
Besides the daily dysautonomia symptoms Randi's complaints of right sided, waist area, pain was increasing. There were CT's, MRI's, bone scans, blood work, urine workups. We questioned herpes zoster perhaps in a partial form excluding the rash due to Randi's severe immune deficiencies. Then there were her oral herpes infections that were one after the other. Unfortunately, due to Randi's inability to use the bathroom and wash her hands at night, she ended up with herpes cross contamination in areas we didn't want it spread to. Headaches had returned and become chronic . Randi began complaining of blurred vision and sensitivity to light. This rekindled an ongoing question, did Randi have herpes and or other viral infections systemically. Her leg and foot neuropathies were increasing and as they did, so did the associated pains. We were increasing her oxycodone dose regularly to try and keep Randi as comfortable as possible. Menstruation was literally killing Randi! Every period was so hard on Randi causing every symptom she had to be exacerbated. She was so weak she couldn't even get onto her bedside commode at times. Her extreme chronic nausea was off the wall. Numerous doctors repeatedly told us there was nothing more available that we could treat the severe chronic nausea with except the high doses of promethazine which she was already taking and had been for sometime. We wished we could just end the monthly additional horror! However, attempts of using medications in the past had never worked and brought with them more risks and problems. Severe allergies were another daily problem were forced to contend with for which there was little to no relief available. In fact the only allergy med. that had ever made any noticeable difference was benadryl. Randi was unique in the way she metabolized medication and this was more than likely the reason most medications didn't work on her. Benadryl never caused Randi drowsiness. In fact she was on the highest dose allowable around the clock.
Brooke finally had a muscle biopsy at Tufts New England Medical Center in June 2007. We had fought for years to have the muscle biopsy performed in Atlanta Georgia so it could be performed on fresh muscle vs. frozen. Our mito specialist at Tufts N.E. Medical Center explained that because they had a very strict protocol they also had a good deal of success with muscle biopsies. This was our next best option. The muscle would be excised at Tufts, frozen, and sent to Atlanta Georgia. We decided it was worth one more try. Brooke did not want to undergo the procedure again, since she had been through too many botched biopsies/ procedures in the past. I felt this was our last chance to find out whether or not our family truly had MITO and if so what form. Brooke was scheduled to be the first in the OR that morning. We arrived at the hospital by 5:30 am. She was prepped and then we waited and waited and waited and waited. An emergency surgery had arisen and one of the three operating rooms was being used for the emergency. Of course it was the OR Brooke was assigned to that day. Finally at 1:00 pm, after the OR became available, the surgeon met with us. He conveyed to us that the tech who was the only one familiar with the special protocol of packaging and sending out muscle biopsies was not at the hospital today. They were working on contacting that person to see if we could proceed with the surgery. About one hour later Brooke was wheeled into surgery. Once again, I was very concerned this biopsy would be compromised as had been the case so many times in the past. Only time would tell if this undertaking would yield us answers we'd searched for my children's entire lives .
August 2007, two months later, Brooke's biopsy results revealed multiple anomalies of complexes 1 and 4. Unfortunately, the results carried a rather high price. Brooke was left with significant neuropathy at the muscle biopsy site, in her upper right thigh. She now requires neurontin daily to cope with yet one more new area of pain. We were told this had never been seen before, out of the thousands of muscle biopsies performed. Whenever you have any procedure there are always risks involved. We knew this and had to accept the consequences. We question whether or not it may be related more to our families form of mito vs. the surgery itself since neuropathies are present and play a role in the generations of our family that are affected by mito. Brooke was chosen by our doctors to have the muscle biopsy, vs.the rest of our family, for the following reasons; Brooke was the only one who had a positive MRSpectroscopy. Brooke had a positive forearm stress test as did Drew and I. Although, Randi was clearly the most severely affected in our family she was also too ill to put through an unnecessary surgery. Even though possessing the results doesn't change anything in regard to further treatment or care, at this point in time for a mito patient, for the individual / family its very important! To be able to concretely document, beyond a shadow of a doubt, what I had struggled my children's lifetimes to find was REAL! The horrible madness had a name and it could now be identified.
That was the good news.
Then came more bad news! Our new primary that we had just got to know and trust, who had promised she wasn't going anywhere, was gone! We had only been seeing her for a little over a year, when we received a letter in the mail indicating our doctor was no longer with the practice. When I called the office practice to follow up, I was told we were not allowed further contact with the doctor. She had given us her personal cell phone number, for emergencies, so I called to see what was going on. We had a follow-up appointment scheduled for both girls, in just a few days, which was very important. I will not go into details but for whatever reason she and the practice she was affiliated with had a falling out. Since she had no malpractice outside of the practice she could not even legally continue to write us prescriptions any longer. GREAT, what were we to do now? The other doctor in the practice refused to take on our care knowing how involved it was. The last thing I wanted to do at this point was to start all over again. Our doctor told us she would try to relocate to a practice where she could continue to see us. We kept in contact back and forth for a few months and then its as if she fell off the planet . We kept asking pharmacist and other doctors in our area if they knew where she had located to but nobody knew. Once again, the medical community had let us down! She was the only physician in our area who was willing to take on our complicated cases. With Randi so seriously ill I was devastated! We would still be making our usual planned medical trips to Boston, which were on average once every one to two months. Hopefully, we could manage most issues during these trips. However, when seeing specialists if its not up their alley you're out of luck. Things that didn't seem life threatening we'd just have to wing the best we could, as we'd learned to do so many times in the past. There simply is NO appropriate medical care available for someone afflicted by mitochondrial disease! Its unconscionable for a person suffering from such a complicated, devastating disease that requires very specialized,complex and in-depth care to have none available! Especially in this day and age!
Granted none of this was our primary doctors fault. It was clear her leaving the practice had absolutely nothing to do with us. In fact she was very concerned about how this would negatively impact our family.
A little over a year earlier, a local newspaper did a feature story on our family in an effort to raise awareness of mitochondrial disease. At that time someone had phoned me, after seeing the article, and informed me there was a new genetic / metabolism doctor at Albany Medical Center that was familiar with mitochondrial diseases. I had kept this in the back of my mind but I also had significant reservations about Albany Med. for so many reasons. On the other hand, lessons learned from past experiences reminded me, its not the place but rather it all boils down to the individual providing the service. I began referring individuals, that contacted me regarding mitochondrial diseases, to this doctor. He was the only local doctor trained to care for mito patients if they couldn't or didn't want to travel out of state. I was hearing good things about this doctor from those I had referred. I also sent a copy of my book to his office with a letter explaining who we were, how I found out about him and that I was referring individuals to him for suspected mitochondrial diseases.
On our next planned medical trip to Boston we had more new doctors on our itinerary. Randi's need for potassium replacement kept increasing and no one knew why. Therefore, she was referred to a nephrologist. Although the nephrologist had no answers either we now had yet one more specialist to see with every medical trip to Boston. Both Brooke and Randi's significant difficulties with menses had reached an intolerable level so we were forced to get a referral to a gynecologist. Randi was followed previously in Philadelphia by a gynecologist for the same problems but medications never worked and or just made things worse. Neither girl could keep going on the way they were any longer so we hoped there might be something new available. We were told the newer birth control medications, which are used to help with menstruation problems, would more than likely work well for the girls. Both were started on the same thing, lutera. Well, this did not do anything but intensify menses symptoms and problems. After this 2 month trial the doctor agreed to switch the girls to a product called nuva ring. Randi referred to it as a glow bracelet. The ring had to be positioned inside, something Randi couldn't perform on her own. This medication was far worse! This brought about a constant state of non stop menses and all of the horrible side effects associated with menses which we were trying to get rid of. I had had it! Randi did not need any of this on top of everything else she was dealing with daily! The gynecologist then wanted us to use an implantable device. I told her she had to be crazy! With my daughter's severe immune deficiencies, absolutely not! I wanted another gynecologist, enough was enough! We would now wait another 8 months to get an apt. with another new gynecologist.
Brooke's ongoing dental problems now required root canals which had to be performed in a hospital setting due to her complex medical problems and reactions in the past. Brooke was referred to the dental school, where she would receive care from dental students who are overseen by staff. She would need many hours of return visits in order to complete the extensive work that was to be done. Again, one more thing to add to our list of things to accomplish during our medical trips to Boston.
Amongst all of this turmoil, Randi had been complaining of a severe sore throat which she said was as bad as that which she experienced with her tonsillectomy. For over a month, we worked her up for virals, switched her daily antibiotics, but nothing helped. We did still have a local ENT doctor whom was part of our medical team throughout the years on / off. Knowing Randi he got her right in and scoped her in his office. As had usually been the case, Randi's nose was so swollen he had great difficulty passing even the smallest viewing tube. After examining Randi, he knew for sure her sore throat was due to gastroesophageal reflux. She was raw inside. He immediately restated her prevacid. Since Randi's j-tube placement, about a year earlier, she had not been on any medication for reflux and she hadn't complained of reflux. Randi had recently started tasting foods. It was possible the small amount that inadvertently was swallowed was the cause. However, after more than one year without anything in her mouth she decided tasting foods was worth it. Randi actually became very good at "tasting". She would chew the food, taste it and then very discretely spit it into a cup. This brought her immense pleasure. Even foods she could not ingest for several years prior to her j-tube she could once again taste. She commented that she had forgotten what many things tasted like.
Meanwhile on the home front, behind all the medical scene, Randi's new bedroom was finally complete. Her special bed which was all we were waiting for had arrived. We had the pleasure of meeting a local family who had lost their infant son to mitochondrial disease a few years earlier. In their son's memory they founded the Thomas Patrick Morrison Foundation. It was only by chance we found out about the foundation. One afternoon Randi happened to have her TV tuned into a channel she rarely watched, for an upcoming Justin Timberlake feature, when she caught a local news story about mitochondrial disease. She began yelling for me to come listen. I got enough information so I could further investigate the foundation and make a contact via the internet. The Thomas Patrick Morrison Foundation helps children and families of children with special expenses. I had opened and maxed out two home improvement store accounts to make Randi's bedroom a reality but we had no money left for a bed. We asked the Morrison's if they would consider purchasing the air mattress and adjustable hospital bed frame.
All of Randi's favorite things were lovingly painted on a 16 foot wall adjacent to Randi's bed by her teacher. The ocean, with a full size Justin Timberlake surfing. A sailboat, with Randi's favorite number 13 on the sail. A lighthouse, with her cat she had lost several months earlier along with her new puppy depicted rolling in the grass near the lighthouse.
On a previous Boston medical trip, I was told there was nothing more that could be done for Randi by her mito specialist. His opinion was, nothing more should be done to prolong the inevitable. I felt in my heart, there was still more we could do for Randi. Not only did Randi feel the need to have another pet after the loss of her 17 year old cat, I knew how very beneficial having a pet can be for anyone. Our family had many dogs in the past but this was different we did a lot of research to find just the right match for Randi in her situation. We wanted a dog as hypoallergenic as possible, and one that would make a good companion. We narrowed it down to a golden doodle. Initially, we tried to get a dog donated from breeders some distance away. Because they didn't know us they were concerned about the dog receiving appropriate care when Randi was ill and away from home as well as what might happen to the dog if it outlived Randi. Time was of the essence so when our local pet store advertised they had a golden doodle, we were there immediately. The pup was exactly what we wanted and thanks to grandma, Randi had a new found joy! She named her new dog Blackberry. Though just 3 months old he was big! Randi spent the majority of her time training her pup and going outside with him. This was something I insisted Randi commit to ahead of time. This required Randi to do things physically that were very challenging for her. This was the best therapy ever! Blackberry was always at Randi's side. If Randi was sitting he was sitting on the couch right beside her. If she was in bed, he could be found lying on the floor beside her bed. If we left for a local doctor apt. he was always right there waiting, with unleashed excitement, for us to return welcoming Randi home. On week-long medical trips he would just mope and pout until we returned family members told us. Blackberry accompanied us in the car for short trips as well. Randi adored her "baby" Blackberry!
Spring had finally sprung and the weather was improving even though nothing else was improving from a medical standpoint. By the end of April Randi began complaining of an all over abdomen pain. I didn't want to make another exhaustive trip to Boston unless we had to so I finally decided to reach out to the new local mito specialist in Albany. I figured it might save us a trip and maybe we'd like this new doctor and if we did maybe he might be able to help us. It was time to test the waters. Generally a specialist isn't willing or able to help with other problems which aren't directly connected to their specific area of specialty. This was the case with our mito specialist in Boston. They were just too overwhelmed with trying to care for the mito aspect to help with all the other health problems associated with mito, unfortunately. Another CT was ordered but revealed no answers to explain this newest chronic severe pain. The encounter with the new mito specialist and his staff left Randi and I cautiously optimistic. However, no definitive follow-up was scheduled for Randi at that time. By May the pain had localized to Randi's lower abdomen. In early June we ended up in our local E.R. Randi's pain was greatly intensified.
Accompanying the severe, constant, lower abdomen pain was an intense pressure made worse by going to the bathroom. Randi, was obviously used to a great amount of pain but she had reached her breaking point. A repeat CT showed a non obstructing stone and cyst in Randi's kidney. After the E.R. contacted our new mito specialist in Albany, the medication dilaudid was added to Randi's regimen, a foley catheter was placed and we were sent home. It was felt it was just part of the mito disease progression. As soon as the foley catheter was removed, a few days later due to concerns of infection, the pressure returned. At that point, I called our mito specialist in Boston to inform them we were on our way to the E. R. in Boston. Since Randi was chronologically an adult it was an extensive ordeal every-time she needed to be admitted since all of her specialists were pediatricians. Politics and red tape stood between Randi automatically receiving the appropriate medical care she required, provided by her specialists. Randi always had to be admitted to someone who was not her doctor and didn't know anything about her solely because of her age. Her specialists could then be consultants but it was never the optimal situation. Once again more tests, more specialists, yet no answers. A week long ordeal that was fruitless! One of the last recommendations was an evaluation by our new gynecologist for endometriosis as a possible cause. This subject had been a topic of discussion many times in the past given Randi's severe monthly problems. The gynecologist was on her way out of the office for vacation after speaking with us. She stated clearly, if Randi indeed had endometriosis it was in no way to blame for her extreme new lower abdomen pain. I was angry because in my opinion, the gynecologist didn't want to delay her vacation one more second. She was so jubilant as we left her office talking to her staff about details of what she was going to do on vacation. I just wanted to scream, "What about my daughter who is suffering horribly does anyone care", but I refrained. We had met this gynecologist for the first time a few months earlier. In a round about way chances were good we would know if Randi had endometriosis soon. Brooke was scheduled for laprascopic evaluation to determine if she had endometriosis in just a few weeks with this gynecologist. Randi was discharged home with instructions to catheterize every 4 hours. When we got home nobody from Boston wanted to order the urinary supplies for us. The new urologist we had seen during Randi's visit was now telling us he was already very busy and Randi's case was too complex so he would not be able to follow her any further. Great, why didn't he tell us that while we were out there! Our Boston mito specialist's office was too busy too, and would not provide a prescription for Randi's urinary supplies. We were told we needed to find a local doctor to handle this. Every body was too busy! That's when we called our new local mito specialist in Albany, hoping they wouldn't tell us the same thing. Fortunately, they were more than willing to help us out. During Randi's hospitalization two very important discoveries were made that had nothing what so ever to do with the problems that initially brought Randi to the hospital. Cortisol stress testing revealed Randi had partial adrenal insufficiency. This meant we needed to make doctors aware of this in an emergency situation, if she were hurt badly, or very ill. She would always need hydrocortisone in such situations. The second test ordered involved only blood also. It was explained that newer testing was now available that might tell us if specific genetic material, known to be responsible for immune function, was affected in the girls chromosomal anomaly. If we could establish this, there might be something we could do to help them which could have a major impact on their overall health. The results of this testing would take several months. None the less, this was something to look forward to! It always amazed me how many times we had found things, very important things, when the things found had nothing to do with the focus at the time. It always made me wonder why it took something like a hospitalization to discover these valuable findings. Soon after returning home I was forced to spend another day in our local E.R., this time with Brooke. It was becoming increasingly hard to leave Randi at home with unskilled care providers especially now that she required catheterization that she couldn't perform on her own. We made the decision it was time to ask for in home nursing care.
Brooke just awoke one day with extreme back, rib, and hip pain. Her spine was noticeably crooked at her mid-lower spine. I feared she had a fracture. We knew she had osteoporosis so this was my best guess. X-rays were taken and although we were told there was no fracture, on follow up with a physical rehab doctor, we were informed Brooke indeed did have a compression fracture in her upper spine. Since that day Brooke has had repeat episodes of significant sudden scoliosis in her mid-lower spine that can last from a few days to weeks causing her to be bed ridden and in severe pain. Even when her back is not, "out" , she still always has constant severe pain in her spine, ribs and hips. You guessed it, there are no answers after years of work ups. It 's probably just part of mito, we're told, due to ever increasing muscle weakness, cramping and spasming. Bracing was suggested and tried but due to the rib pain its not doable and would only lead to weaker muscles relying on the bracing. Daily high doses of pain meds. and muscle relaxants are now part of Brooke's extensive daily medication regimen. The phrase, "It's just mito" is thrown out a lot. I have come to accept that usually that is the case but not always!
The new gynecologist had promised to follow up with us prior to Brooke's surgery but she didn't. She hadn't had the consideration to return my numerous phone calls either. Brooke and I had decided if endometriosis was found a hysterectomy should be done vs. putting Brooke through another risky surgery. When we arrived for Brooke's pre-op we anticipated we could speak with the gynecologist. However, she wasn't there and we were left talking to someone we'd never met before. I demanded the doctor be called but we were simply informed we could speak with her tomorrow, prior to the surgery. Brooke and I relayed our concerns and wishes but were told that there was no way Brooke was going to have a hysterectomy tomorrow. I was very angry to say the least! This doctor clearly didn't understand nor did anyone seem to care!
Leaving Randi was very hard, and involved an enormous undertaking to arrange for Randi's complex care. Secondly Brooke shouldn't be undergoing any more unnecessary surgery than she needs either! I told the anesthesiologist who was conducting Brooke's pre-op exam that I wasn't sure we were even going to go through with this. If the gynecologist would have had the decency to call me, as I requested, we wouldn't be in this situation. If we postponed Brookes' surgery we could probably subject her to one surgery vs. two. This would also mean helping Randi would be prolonged if endometriosis were found and I just knew Randi needed help sooner than later. I had even called both of our mito specialists and explained the situation hoping to garner support for the hysterectomy vs. another surgery. They, of all people, knew how risky surgery is for mito patients and how it can cause set backs and complications more so than for the general population. Our Boston mito specialist was not at all supportive of this although our local mito specialist was fully supportive. Our local mito specialist placed a phone call to our Boston mito specialist and they were told not to pursue this matter any further. I really had no idea when we left the hospital if we would be back the following morning for the scheduled surgery or not. Although already tired and beyond my safe limits, energy wise, I was too distraught to rest. Brooke and I rode the subway out to a place on the ocean where I had taken the the kids twice before when they were younger. We talked and talked for hours. When we returned to our hotel I was exhausted and we needed to be at the hospital by 6:00 am.! I had basically decided for Randi's sake Brooke would have to endure two surgeries. Brooke somewhat reluctantly was willing to do this for her sister. Regardless, the gynecologist was going to get a piece of my mind! As usual, I accompanied Brooke into the pre-op room where she was prepped and we were awaiting the doctors arrival.
For the sake of limiting anesthesia Brooke was also scheduled for a repeat esophagoscopy. The girls current GI doctor was at Mass General but Brooke was over do for an evaluation of her esophagus. We had met with a G.I. doctor at Tufts one month earlier to coordinate the procedures.
The gynecologist walked in and I calmly began by saying that Brooke and I were very upset and needed to talk to her before we proceeded. Well, this time I didn't hold back as I had a few weeks earlier with Randi! Of course I broke down crying as I tried to get my my message out. I had reached my breaking point! These were my children whom relied on me to care for them and advocate on their behalf! I had tried to do things the way they're suppose to be done but there was no cooperation on the part of this doctor. Just then the new G.I. doctor walked in to the room to go over his pre-op presentation. This was only our second meeting and I didn't want to be portrayed in this fashion, but that wasn't going to stop me. He excused himself stating he'd be back. I was not a bad person, rather a mom who had been pushed way too far for way too long! It was time that someone listened to me, my children were suffering! The gynecologist felt we should postpone the surgery and meet with her later that afternoon in her office to further discuss everything. I had made my mind up though and I then went off on her about how our lives weren't like hers and how hard it was to make these trips and arrange for care for Randi etc. I went up one side of her and down the other. I just had this feeling we had to proceed with Brooke now for Randi's sake. Her excuse for not getting back to us before this was, she was just too busy.
A good amount of endometriosis was found and removed. Everyone had agreed in advance, of the surgery, that Brooke would need to stay overnight vs. going home which is fairly common after this procedure. In order for me to be with Brooke post surgery, in the recovery room, we had to lie. Once again solely because of chronological age. I have always gone into the recovery room to be with my children post surgery. However, once the patient is considered an adult, even if its only chronologically, the parent is no longer allowed to do so unless its for an outpatient day surgery. Anyhow, I was told not to say anything to the post op staff about our plan, per the gynecologist and have her paged when Brooke was ready to go to a room. Yeah, that didn't go over well with the nursing staff in the post op and of course we were to blame. I was so sick and tired of all this nonsense regarding age! It was a good thing we stayed because in the middle of the night Brooke experienced severe chest pain. Tests were run but nothing was found. If we had left we would have ended up in our local E.R.
Despite the findings, to our surprise, we were told that the hospital had protocols that had to be followed before Brooke and Randi could have a hysterectomy. They would need to undergo psychological evaluations before we could schedule hysterectomies for either girl. We were told we might even need to go to court before we could proceed. Now common sense is all that really needs to be used here! Both girls were developmentally disabled and can't care for themselves. Even the girls are intelligent enough to understand this and had come to the conclusion that they would never want to have a child and risk it having mito. The only people that needed to see a psychiatrist were those asking us to do so! How absolutely ridiculous! My girls were ready to let the psychiatrist and anyone else know they'd had enough of the pain and suffering that their menses brought them and that they were well aware of the decision they were making.
The psychiatrist wanted to speak with Brooke, alone, first.
Then, as Brooke and I waited for Randi we discussed what the psychiatrist had talked to Brooke about. Brooke said the psychiatrist asked if she saw dead people. That's when we both burst out laughing. Randi had a sixth sense and did see dead people so we figured we were going to be there for a while if she asked Randi that question. Brooke also told me the psychiatrist asked her if Randi walked and talked. Brooke's reply, "My sister talks just fine you'll see". As was always the case, Brooke looked normal and Randi did not so the assumption always was made that Brooke was higher functioning which wasn't the case intellectually. We were all in a rebellious mood that day! Well I guess the psychiatrist established what she needed to because I received a phone call a few days later from the gynecologist office to schedule the girls hysterectomies. It was agreed that although it would be tough it was probably best logistically to operate on both girls on the same day back to back.
October 2nd 2008 was the upcoming date of surgery for both girls that weighed heavily on everyone's minds. Although we looked forward to finally stopping the girls monthly unnecessary added problems, which compounded their disease process significantly, we were all reluctant to put Randi through this major ordeal. She was not a good candidate for surgery with all of her problems and her poor health. There were so many issues we had to take into consideration. She now had severe hypercalciuria to add to her medical problem list. A few months earlier while catheterizing Randi she had what looked like a crushed white pill material pour out. When we were finally able to get it analyzed properly it was determined what we were seeing was excess calcium and oxalate crystals. We were able to document the findings over and over again. Disappointingly, just one more problem to add to Randi's ever growing problem list. Randi had a very high urine calcium level for which there was no explanation and none of the medications traditionally employed to combat such were of any benefit. Added to the twice weekly potassium levels that were crucial in determining the daily potassium doses we now had to perform bi-monthly 24 hour urine's to monitor Randi's unique metabolic manifestations. Infection was another huge concern going into the surgery. There was a great deal of thought put into planning all the details and modifications. Of course, we had to get special authorization ahead of time so that I would be allowed with my daughters post surgery in the recovery room. We left nothing to chance! After numerous discussions, the gynecologist and I agreed it would be best if she performed Brooke's surgery first since she knew what to expect based on the previous laprascopic surgery. The gynecologist now wanted to open both girl's up vs. performing laprascopic surgery so that they weren't in the operating room for such a prolonged amount of time in an effort to keep them more stable. The girls and I did not want to go this route if at all possible. I was told because she didn't know what she'd find in Randi that this was a real possibility regardless. During the girls pre-op evaluation we re-drew for the specialized blood test that might tell us if we could help the girls with their immune deficiencies. For some unknown reason, not provided to me, it was previously messed up. I only discovered this after asking repeatedly for the results.
The day had finally arrived. When we got to the hospital the staff informed us there had been a change of plans and they were now taking Randi into surgery first. What turmoil! I had given and not given each girl their morning medications based upon what we had planned on the day before. I couldn't understand why this was happening since the gynecologiast and I had discussed at great length over and over why she wanted to take Brooke into surgery first. This caused a little chaos but we got Randi prepped and ready. However, when the gynecologist arrived things changed once again. She did not change anything rather someone else made a mistake. So once again the girls switched positions and plans changed. The rapidly changing sequence of events took the edge off the nervousness as we had little time to focus on much of anything. The wrong IV solution was hanging as well which thank goodness the gynecologist noted and complained to the anesthesiologist staff so they could make the change. Lactate Ringers are not suppose to be used in mito patients.
Once Randi was taken into the O.R. I was brought to see Brooke. Everything had gone as planned and there were no obvious complications. I had only been at Brooke's bedside, in post op, no more than 5 minutes when I was informed I had a phone call form the O.R. I did not want to walk towards that phone. Was this the call I had always dreaded? Had something gone wrong and I had to make the decision to let Randi go or have her on life support? It was the gynecologist and she informed me Randi's condition was stable, however, she had one of the most severe cases of stage 4 endometriosis she'd ever seen. She then said, "I didn't have to open Randi up as we discussed as a possibility." My brain just stopped processing after her first sentence, nothing else was getting through. I initially thought she said she did have to open Randi up which we feared since we didn't think she could recover from such a major surgery. Her plan was to remove Randi's ovaries and tubes but she could not remove her uterus as it was deeply embedded in her bowel. She was afraid Randi might perforate and she hadn't been prepped for the type surgery that was now required. I just said, "Please just get back to Randi and we'll discuss this all further afterward." I was a nervous wreck! I was glad we finally found this, and one major problem would no longer plaque Randi but we had just swapped one problem for another. All I could think about was poor Randi. While Randi's surgery continued I accompanied Brooke to her hospital room. The girls were room mates, of course, as had been the case with a few other hospital admissions in the past. The gynecologist called me, as promised, and told me where she wanted to meet with me before taking me to see Randi. It appeared as if she was unsure about what I might say or do when I saw her. I wasn't going to go off on her again although I had ever right to do just that. I had said my peace. She knew exactly how I felt about things in the past. I decided to take the high road and stated,"If you and everyone else involved takes nothing else away from all of this, please, you need to listen to your patients / parents!" She replied, "I am a good doctor, I do care, I really do, we just are so busy." She went on to explain that Randi would need about four more major surgeries to completely get rid of the endometriosis and damage that was done by the endometriosis. The gynecologist admitted it wasn't fair for the girls to have this on top of all their other problems associated with mitochondrial disease. This was just awful! This was something that we'd have to contemplate in the future for now we had to focus on getting Randi through this latest setback. When we were reunited with Brooke , in the girls hospital room, I found her to be crying with a severe headache for which she wasn't being treated. I was not going to take any crap from anyone! I just proved at Randi's expense, once again, how horribly bad my children have had to suffer because either everyone is too busy, doesn't care or won't listen to us! We've been in this position countless times in my children's life times! I believe there would have been disastrous consequences had we put the surgery off much longer. For at least two months, prior to her surgery, Randi had been bleeding rectally. However, nobody that I told seemed to care. I couldn't get any of our doctors to investigate. As soon as the diaper Randi had on pre surgery was taken off the gynecologist was able to see for herself what I had been telling everyone. The G.I. doctor at TUFTS, that had performed Brooke's repeat esophagoscopy a few months earlier, was called to evaluate Randi's rectal bleeding. There had been growing discontent with our current G.I. doctor, which I won't elaborate on here, so the girls and I decided we would switch G.I. doctors. Now our G.I. doctor was under the same roof as the majority of our other specialists, at TUFTS New England Medical Center in Boston.
Before the surgeries we had planned on having a big Halloween party. It would give the girls something to look forward to. Randi loved Halloween, it was one of her favorite holidays! Randi was just a child at heart. Although, she knew about adult matters she chose to live her life as a child, sweet and innocent! In doing so, she made life fun for all of those around her. Randi was always drawing, making decorations for each holiday or special greeting cards to share with family and friends.
Eventhough both girls still had recovering to do we left the hospital after 3 days knowing they were better off at home. It was helpful for both girls to have undergone this ordeal together, sisters as well as best of friends. We were only home two days when Randi developed a j-tube site infection. I took her to our local E.R. hoping they might be able to treat her without admitting her, though doubtful it was worth a try. Turning around and heading back to Boston wasn't something I wanted to do. However, that's exactly what we had to do. If Randi needed to be admitted she needed to be in Boston after such a surgery because I felt this might be more complicated than it appeared. Randi had a red line running from the infected j-tube down to one of the incisions used for her recent surgery. Since the last time, several years earlier, either of the girls had required IV antibiotics policies had changed. Individuals were no longer allowed to have IV therapy at home, covered by insurance, unless they had a picc line or port . We were accustomed to using peripheral IV access at home for infusions. This was of particular concern for Randi because we had been warned, more than once in the past, to never have any device implanted in either girl due to their severe immune deficiencies. I was not willing to consent to having a line placed. Doctors who did not know Randi or listen to me about her immune deficiencies gave her only one and a half days of IV antibiotics before sending her home. Actually, the infectious disease doctor who saw Randi swore he had met us before but Randi and I both tried to explain to him that wasn't the case. He clearly was clueless! He asked why Randi appeared so lethargic. "Is she a little depressed", he asked. I replied, "No she's just had surgery and has an infection on top of all her other extensive daily medical problems!" WOW, scary! I was beginning to wonder if it was worth the trip to Boston. It's a crap shoot when you can't be admitted by and receive care form, your doctors! For good reasons, I feared this was not going to resolve her infection. Randi needed an immunologist but Tufts did not have one and Randi's immunologist was at Boston Children's Hospital.
I guess the easiest way of summarizing all of what transpired from this point until Randi's death, nearly two years later, was never ending j-tube site infections. Randi did eventually have picc lines placed so that she could receive the IV medication she required at home. Randi was admitted to various hospitals, for the first year on /off several times, until I put my foot down and said enough is enough! Quit playing games and just keep her on the IV antibiotics daily! Of course along the way there were those that didn't understand and we all agreed it was dangerous and would likely lead to death in one way or another but there were no other options! We kept waiting and hoping the special blood test that might impact the girls immune function might help Randi's situation. I was surprised and shocked to find out the special testing turned out to not even have been performed for that reason. Since the results were initially thought to be crucial for the girls from an immunological standpoint I had repeatedly asked for them. One day I decided to take matters into my own hands. I contacted the lab where the blood had been sent, Boston University. I explained who I was and why I it was crucial we receive my daughters results. To my surprise, a very pleasant doctor replied to me with my daughters results. I explained how our mito specialist refused to supply us with these results for the past several months and how valuable this information might be given Randi's current circumstances. I was confused because what was found was equally as significant but it wasn't at all what we were looking for or at least what was explained to me that we were looking for. This doctor knew nothing about the possible immunological component of the testing. The special test, molecular micro- array analysis, had detected a large duplication of genetic material involved in Randi's known chromosomal anomaly that formats for complex 1 in the mitochondria. This meant no further hope or help for the girls immune dysfunction but that we had finally established Randi had mitochondrial disease and it was from a nuclear DNA defect. To this day we still do not know if Randi also had a mitochondrial DNA defect as well that she inherited from me. Brooke's muscle biopsy documented multiple anomalies of complexes 1 and 4. Since Brooke has not had the molecular micro-array analysis performed to date we don't know how much of hers is from a nuclear DNA defect or mitochondrial DNA defect or both. When we finally met with our mito specialist in Boston for a follow up appointment, approximately one year from the time the blood was drawn for this test, I asked why he couldn't supply us with his information. His reply, "We don't get enough money from your insurance to allow us to do everything, we're just too busy."
While this was upsetting and not what I wanted to hear, I appreciated the open and honest dialoque. Having worked in the medical field I was familiar with behind the scenes operations. I am able to understand both sides of this situation. The few mito specialists that are out there are overwhelmed and many are becoming burnt out. My intent is not to condem anyone rather to shed light on just how underrecognized mitochondrial diseaes are and how this negatively impacts those afflicted as well as those providing care. I have had numerous conversations with all of our specialists regarding the need for improved care for the mito patient.
As previously summarized, Randi's j-tube infection never resolved. We spent the next several months on average, once a month, in various hospitals due to this alone. On January 28th 2009 what I initially felt was infection related forced us to our local E.R. in the middle of the night at the beginning of a major snow storm. Randi was shaking uncontrollably, vomiting, had chills, a high fever 104.5. The highest fever she'd ever had in her life. Randi rarely mounted fevers even with serious infections. She was complaining of a sore throat as well. I knew it wasn't a good idea to try and out run this major storm especially with Randi as seriously ill as she appeared. Time was a factor so I made the decision to go to our local E.R. vs. Boston. I had never seen Randi so ill before. I feared she had sepsis from the picc line I had finally just allowed to be placed in her, a few weeks earlier. I had come to the conclusion we would need to continue these never ending hospitalizations if we didn't have a picc or port placed to enable Randi to receive IV antibiotics daily at home. While those that were intimately involved in Randi's care agreed, we also all knew we would have to pay a price someday. Luckily, one of the E.R. physicians I had worked with, at my former place of employment, was now working in our local E.R. When he walked into the room and told me he was assigned as Randi's E.R. doctor, instantaneous relief came over me. This was one of the doctors I had the highest of respect for. At least I would not need to fight him to get him to listen to me as was usually the case. When initial blood work results were complete I was informed Randi had an extremely low white blood cell count of 1.2. She was admitted although no one was sure exactly what the root of her illness was. They decided to wait to pull the picc line. They explained that the IV antibiotic Randi was on, Zosyn, was known to cause problems similar to what Randi was experiencing. Therefore, the first thing they did was switch her IV antibiotic.
Wouldn't you know that my son had just returned to college the day this all happened after being home on winter break for over a month. I had to leave Brooke home all alone knowing a new aide that was working with Randi lived only a short distance away. I left instructions for Brooke to give the aide a call at 5:00 am and ask her to watch Brooke. I called my son and told him the situation and he headed home after I spoke to someone of authority at his college who gave him permission to miss school without being penalized. This would just be temporary though, so I also placed a call to my parents who were in Florida. They had just paid for one more month's rent but once again they immediately headed home as well. Two years earlier they had to return home, from Florida, when Randi had her j-tube placed.
We saw a local infectious disease doctor who didn't know Randi. She thought Randi might have a systemic viral to blame and possibly meningitis. Although her fever had subsided she was still quite ill complaining of severe neck pain. We decided after a week at our local hospital we'd take her to her specialist in Boston. Because we were all thinking infection she was admitted to Boston Children's Hospital under the care of her immunologist. One of the first things they did was a spinal tap, Randi's first. Randi was such a trooper! Something most people have great difficulty with Randi showed such courage and didn't say a word or make a movement. The L.P. didn't give us any further answers so numerous specialists were called in to evaluate Randi further. Despite the fact that our immunologist knew us he was the only doctor we knew at Boston Children's as the majority of our other specialists were all at Tufts. There was one doctor in particular, there always is, that didn't understand mito or care to. Randi was so ill and her baseline problems so exacerbated that trying to get an MRI turned out to be a horrendous ordeal requiring anesthesia in order to accomplish. Again, Randi was the most cooperative individual you'd ever want to work with but due to her illness she was not able to lay flat for any length of time without becoming violently ill. After two failed MRI attempts, half way into the procedures, we decided Randi needed to be placed under anesthesia. Unfortunately, the staff involved would not listen to Randi or I. They kept reiterating that Randi was just being uncooperative. They did not understand or try to. When the MRI of her head, without contrast, revealed only degeneration of disks in her c-spine everyone but Randi and I felt there was nothing else that needed investigating. My baby was so sick and once again no answers or help. Of course it was Valentine's day as well. I will never forget that Valentine's day! Coincidentally we had spent several Valentine's days in hospitals between Randi and Brooke. Though, I had already bought the kids valentines gifts they were at home. In between all of the craziness of that last day I made it to the hospital gift shop and bought Randi a big Dora the Explorer balloon, card , candy and a stuffed dog that was similar to her pup at home. Randi appropriately named it Balentine. Balentine was what Randi used in bed or while in her wheelchair to support her head, instead of a pillow, from that point onward. Dora still hangs on Randi's wall in her bedroom along with several other special balloons she collected.
I was torn between trying to contact Randi's neurologist who was located at yet another hospital in Boston or just going home and hoping for the best. I would do anything for Randi but I'd had enough of hospitals and doctors as had Randi so we went home. While in the hospitals I still had to provide around the clock care for Randi medicating, catheterizing etc. Nurses could never keep up with her intense needs unless they stayed in the room 24/7 as I did. I never got any rest during these very stressful times. At home , for the past several months, I got a 6 hour reprieve and chance to sleep for 6 hours straight if I was lucky. We had aides coming in from 6:00-midnight but in the hospital there was no rest. On top of all of this it was the dead of winter and so hard to make these long, exhaustive, medical trips. Shortly after Randi was released our immunologist informed us he could no longer advise on Randi's care without input from his infectious disease team at Children's. Other doctors at Children's weren't willing to follow-up with Randi post discharge solely because of her age. Complete and utter devastation is how I describe this! How could they do this to Randi! They all knew there were no adult specialists out there that could help her. I begged them to help us find someone if they refused to continue Randi's care. I researched myself and made phone calls to former pediatric immunologists. We had just restarted with all new specialists in Boston due to age and here we were again faced with the same dilemma only a few years later. We could still see the majority of the girls specialists as long as it was for out patient care only. I began writing letters to hospitals, the president, anyone I thought might be able to help, explaining our unique circumstances and the need for special allowances to be made. I could foresee the nightmare that was unfolding before us and I knew where it was leading given Randi's extremely poor health.
Randi so wanted to meet Justin Timberlake. She talked about this long standing wish all the time. I had brought her to a number of his concerts in the past but still her dream was to meet Justin in person and talk to him. Unfortunately, Randi didn't qualify for make -a- wish because of her age. Any of the adult wish granting programs had guidelines whereas a doctor must be able to state the patient has less than one year to live in order to be granted a wish. Although we talked about applying no one could say for sure how long Randi had. Everyone knew things were bad, only getting worse but no exact time line could be given. As a substitute I told Randi I would bring her to Justin's restaurant in NYC for her upcoming birthday. This was something she'd been wanting to do. We were able to pull it off . Remaining on a combination of daily IV antibiotics, for several months, seemed to finally have the j-tube infection under control. Even I cautiously hoped we had finally conquered this infection once and for all. I agreed with doctors that we could take Randi off IV antibiotics and go back to a combination of oral antibiotics, in Randi's case administered via J-tube. Within 7-10 days the infection had returned again. At that point we met with infectious disease from Tufts, leary about doing so after our past experience with their infectious disease department. I truly felt it was the initial bad decision and their unwillingness to listen to us about Randi's severe immune deficiencies that let this infection get a strong hold for which we now seem to have no defense. The infectious disease doctor wanted to put Randi through surgery to remove her existing tube and then after she healed replace it with something else which was purely experimental. Meanwhile she would receive all hydration, feeds and meds. IV. There were many reasons why this doctors hypothetical ideas would not work and / or why Randi and I along with her other specialists did not feel this was in Randi's best interest. Therefore, we never followed up with infectious disease. I had finally found a good immunologist for Randi based on a referral from our former pediatric immunologist. However, this specialist was in Philadelphia. After much thought I decided it would not make sense to involve yet one more doctor from another outside hospital. When Randi was seriously ill it would mean I would have to transport her to Philadelphia and then, as we'd run into so many times in the past we might have a great immunologist which Randi desperately needed but we wouldn't have any of our other specialists. We were very fortunate that our local mito specialist had been willing to take on Randi's daily medical care. Between him, our Boston specialists that hadn't abandoned us and an exceptional home health care agency we were making due best we could given all the circumstances. Our local mito specialist had started Randi on marinol, an anti-nausea medication, several months earlier after all her other specialists told us there was nothing more we could try. This was of great significance. It didn't take all the nausea away but it had a huge positive impact on Randi's quality of life! This doctor also started Randi on IV carnitine which calmed her daily muscle cramping and spasming significantly. So much so we could discontinue catheterizing Randi. It relaxed her muscles just enough to allow her to urinate on her own. Surprisingly, it also decreased her diarrhea. Going forward we all agreed Randi had no other choice than to remain on IV antibiotics for the rest of her life. None of us knew how long that would be. Since I had a medical background I felt comfortable, for the most part, providing Randi's intense 24/7 care at home. We so hated hospitals and for so many good reasons! We avoided them at all costs!
We had made the decision by this point in time that Randi did not want to die in a hospital. We began celebrating every occasion/ holiday from that point forward as if it was Randi's last, all the time hoping it wouldn't be. Randi was pretty much confined to bed. She could get up from bed and walk around her room enough to get things from her bedside drawers or arrange and play with all of her figurines and toys as tolerated. She collected happy meal toys. The simplest things brought her such joy. Whenever I was out I would look for something special to bring home to her. A new addition to her growing collections. She still enjoyed life despite all the pain and suffering. She rarely complained about anything ever! One of the few things left she could do was go to the movies. Her special wheelchair tilted so it made this possible. Sometimes it was months at a time she was so ill she could not do anything but watch TV and even then there were times she couldn't tolerate even this to any extent. Somehow she compiled scrapbooks of everything, all sorts of mementos along the way that most people take for granted. These contained scraps of her life from the last one and a half years of her life. Looking back now I realize she made them for me to remember those times by. They bring me great joy to look at! Randi surrounded herself with bright, cheery child based things as a means of remaining positive and bringing fun into our lives in a very difficult situation. I am sure it brought her comfort as well.
September 2009- Brooke required another surgery to remove adhesions which she had traded for her endometriosis and everything associated with it. We were aware going into this surgery that if adhesions were found as the cause of Brooke's new severe lower abdominal pain, which developed a few months post her hysterectomy, that further surgery did not bring with it any guarantees that once removed it wouldn't return. Of course we all had to wonder, if Brooke weren't forced to undergo two surgeries to accomplish what could have been done in one, would she have the adhesions just the same. Well, unable to leave Randi at home due to her complex, intense care, that only I could provide, we had to bring her along. I had to hope that Brooke would have no complications and we could leave after the surgery for home. My mom accompanied us and was able to do enough, during the times I needed to be with Brooke pre and post surgery, for Randi to make it all work.
Adhesions were found as the source of Brooke's chronic, severe lower abdominal pain. We would have to keep our fingers crossed that the adhesions didn't return. There was a good chance that they would but we felt it was worth one try. We knew if they did return then there would be nothing more we could do except wait until the day a non invasive means to remove adhesions is found. We have a very good relationship with our gynecologist now. She takes the time to listen to us and respects my input. She's come to realize and has told me a number of times,"Cathy you know your daughters very well and you are their best advocate. You have to be and don't ever stop doing what you do." She's become an ally, relaying the same to other doctors involved in the girls care at Tufts as well.
We had a follow up apt. with our local mito specialist about a week later. Both girls were in wheelchairs and I was all alone. We did it but I started thinking about how I was going to do it all, if Brooke also declined to Randi's level. Randi was stabilized in regard to her j-tube site infection anyhow, for several months, once we resumed her daily IV antibiotic regimen. We were even considering having a kidney biopsy to try and find the cause of her constant kidney stones which we felt were the cause of her horrible chronic, severe back and abdominal pains. There was no way we could tell for sure how much of Randi's abdomen and back pain was related to her endometriosis and how much was due to the high calcium and kidney stones but we were desperate for answers. We made two special trips to Boston for this purpose alone, after making the decision to keep both girls in total isolation for the fall and winter months. Isolation was not only because of the usual illnesses but H1N1 that was circulating this season. We feared if Randi caught anything it could be the end. On the way home, from one of our medical trips in early December 2010 Randi and I stopped so she could pick out a few special Christmas toys for her puppy. One night, while I was trying to rest, Blackberry was misbehaving. He was trying to shred one of the new toys we just got him. Randi was playing with him and trying to get him to mind her. Inadvertently, while lying in bed on her stomach, Randi's j-tube twisted sidewards. I heard Randi say ouch loudly. However, that was all and I didn't think to much of it since her aide was downstairs with her. By morning Randi's j-tube site was fully infected, red , hard swollen and oozing bloody pus. Randi explained that initially she didn't feel anything due to her extensive neuropathies. I immediately called our G.I. doctor in Boston and he added another antibiotic to Randi's regimen. Unfortunately, this didn't resolve the infection so out to Boston we went, again. Remember we had decided to stay away from hospitals this flu season, right! Anyhow, once he examined Randi we decided to schedule her for a j-tube replacement at which time he could examine the site more extensively with her under anesthesia. To our dismay the hospital had to special order Randi's tube. This took approximately a month and a half. I voiced my disbelief that a major medical center like Tufts didn't have a tube on hand. What about emergency situations that might arise, I asked. This was ridiculous! This was so detrimental to Randi's well being. This infection had seemingly finally been under control and now this would surely have a negative impact on the gains we'd made. Randi's surgery was scheduled for February 17 so we thought we'd missed that old valentine's curse that seemed to always cause us to end up in the hospital on Valentine's day. Brooke was the one plagued this valentine's day. Although she didn't end up in the hospital, she woke from her afternoon nap with severe lower abdominal pains and cramping with diarrhea. She had already had a return of the dreaded adhesion pains months earlier and even though this pain was in the same area it was not all adhesion related. Brooke was in bed with the extreme constant pain for days. I worried we might have to postpone Randi's surgery.
On the day of Randi's surgery she developed what seemed to be a viral or perhaps a recurrence of one of her long term virals. Not wanting to put the surgery off any longer we decided to proceed. I knew there was something more going on in the OR besides having her j-tube replaced because it was over 2 hours before I was called into the recovery room. On the way in I was stopped and asked by a number of nurses if the doctor had a chance to speak with me yet. I hadn't seen him yet but obviously something had happened. Once the J-tube site could be visualized internally they discovered that when Randi twisted the outer flange of her j-tube, the back portion inside of her, it gouged out a tract which was infected and contained dead tissue. A surgeon was called to remove the dead tissue portion of her abdomen around her j-tube site. Approximately a 3/4 inch wide by 3/4 deep section of tissue was removed. I was instructed in how to clean and dress it. On the way out the door our G.I. doctor said, "Oh, by the way Randi's probably going to need more in the way of pain medications too for a while." We had a several hour ride home with Randi in this condition and of course it was snowing. I called our local mito specialist to advise with an update and ask if they could call us in something for the new pain. We had been discussing using a new route to supply pain meds for some time before this. As it was, at this point in time, I had to give Randi Oxycodone every two hours via her j-tube in order to make any noticeable difference. To get us through the night fentanyl patches were ordered and in the morning we would begin with an external fentanyl pain pump which would be better for both Randi and I. In the morning we were informed that public health would not allow us to begin Randi's pain pump at home unless she were admitted to our local hospital for the initial dose, per their protocol. Randi had already received fentanyl in the hospital the day of her surgery and with past surgeries so the doctor and I had no concerns. It had just taken me seven and a half hours to drive Randi home in a snow storm. Neither of us had gotten much sleep. I was not about to drag Randi out anywhere! She was very ill and exhausted and so was I! Public health told us if we went ahead and began the pain medication at home vs. the hospital they would never come into our home again. Fortunately, I was able to do everything they were now doing for us which included drawing Randi's labs, cleaning and dressing her picc line site. I didn't want to create bad feelings with public health but we chose to provide in home care for my daughters when ever possible vs. hospitalizations. I believe everyone should have that right! The continuous pain pump was a welcomed addition to Randi's care.
For a few years we had seen pain medicine specialists in Boston to address Randi's chronic, severe, multiple pains. Every specialist said it all came down to an internal pain pump as the only option. Since we weren't going to have anything else implanted in Randi, for obvious reasons, we were left with no choice other than to medicated via j-tube every 2 hours. Once again our local mito specialist had given Randi another choice, not offered by anyone else, that could improve her quality of life.
Brooke continued to experience ever increasing G.I. problems consisting of chronic nausea, vomiting, diarrhea, pain with bowel movements, choking while taking medications. This was all too familiar and as was the case with Randi, we could find no explanation. Brooke was also complaining of severe tooth pain again but her dentists were in Boston. I couldn't get Brooke the help she needed since I couldn't leave Randi and dragging her on another medical trip, in her condition, was out of the question. I searched our local phone book knowing we'd been this route before, each time dentists had refused to take on Brooke's care. I contacted a dentist, based on his advertisement, that I hoped would be willing to at least see Brooke for an initial visit so we could explain our circumstances. Fortunately, he was very caring, understanding and seemed undaunted, unlike most doctors are by Brooke's extensive and complicated medical problems. Not surprisingly, Brooke needed more root canals. We were told, just a few months earlier, after the completion of three root canals she was all caught up and just needed follow up. Brooke's dental problems were not typical and somehow I am sure they are related to her metabolism problems. Randi on the other hand, to our knowledge, never had any cavities which was a good thing because trying to perform dental work on her would be nearly impossible! Also, root canals are costly and not covered by medicare or medicaid! Both girls had osteoporosis and had been receiving intravenous medication, every three months, for the past several months.
Just as soon as Randi's j-tube site healed from the surgery it was only a few days before it was massively infected yet again despite being on IV antibiotics. Randi continued to have a low grade fever on/off for months after the surgery although seemingly no other signs of anything definitive going on.
In mid May, a few weeks before her birthday, she spiked a high temp of 104, was shaking uncontrollably, sweating profusely, vomiting and was very ill. These symptoms were very familiar. I debated whether or not to let things play out at home or take Randi to the hospital. I called our local mito specialist because I had decided we would give Albany Med a try. We knew our local mito specialist could not be in charge of Randi's care because he was a pediatrician but he would be able to give input. After all he was the one in charge of her daily care at home. During my phone call I was informed that Randi had a very low white blood cell count that had been called to him as a critical value from the day before. I began packing all of Randi's supplies and medications which always took at least an hour. We could never rely on the hospitals having everything on hand. All too often in the past we'd learned that.
I grabbed some of Randi's birthday presents too. I wasn't sure she'd make it to her birthday and she would need something to make her feel better if she did. I had gotten one of those premonitions, I guess you could call it for lack of a better explanation, sometime before this. It seemed to be offering me the choice of Randi passing just before her birthday or shortly after her birthday. I just remember thinking if this is a choice you're giving me God I don't want to make that choice I'll leave it up to you. I didn't focus on this though, I didn't think about it again until after Randi passed.
Of all the days this could have happened, our major interstate was closed down in one section due to construction. It took us 4 hours to make a one and a half hour trip to Albany. Randi was becoming less and less coherent. I kept talking with her to assess her. I drove as fast as I could once we got past the area that had brought all traffic to a halt that day. I wanted the police to catch us so I could get Randi to the hospital as quickly as possible as her condition was clearly deteriorating. However, we never encounter one policeman the entire way. Our mito specialist had called ahead and alerted the E.R. that Randi was on the way and seriously ill. When the labs were back I was asked to step into the hall way with the doctor. He informed me that Randi might not make it through the night as her white blood cell count was now 0.8 and she was seriously ill. It was after midnight when we got up to a room. We had started this adventure around 6:00 am, after I awoke in the morning. This was a very long day! As tired as I was, all I could do was keep monitoring Randi's every movement and hoping for the best. We suspected infection as the cause but this, like the time a little over a year earlier, was a toxic reaction to an IV antibiotic. It had attacked her bone marrow, and she had neutropenic fever.
It was great to have our physician, who was in charge of Randi's daily care at home, involved. We fully realized that more than likely there would be confrontations with others who didn't know Randi. One physician, assigned to Randi's care for the weekend, came in and assessed Randi's j-tube infection. He stated I don't think she has a j-tube site infection and doesn't need to be on antibiotics. Immediately I replied, "What's your specialty area doctor?" After all of what Randi had been through non stop with j-tube infections for the last, nearly two years, this guy thinks he's going to make that kind of assessment without knowing everything that has transpired. Yes, Randi's j-tube infection had been slowly but surely getting better once again. It was the best looking it had been in quite sometime. However, anyone following this story knows Randi could not come off IV antibiotics. Then one of the worst doctors we've ever had the pleasure of meeting walks in. He was Albany Meds. best infectious disease specialist. He starts by stating, "You are killing your daughter with these antibiotics and I will not be any part of prescribing continued antibiotics." I tried to get him to listen to Randi's past history and unique circumstances. He refused to listen. In fact my mom and dad were visiting on one occasion when he came into the room for follow up. After he left they asked me what was wrong with him. He would not look at me and clearly wasn't listening to anything I had to say. Our mito specialist knew the facts as did we and our other specialists in Boston. A few of the nurses told us that it was an ego problem and that this doctor was upset that I knew more about Randi's complex problems than he did. Other residents in charge of Randi's care took the time to contact Randi's Boston specialists and told us they did not concur with the infectious disease doctors views either. I was prepared to have to go through this when I made the decision to use Albany Med vs. taking Randi to Boston. However, we also knew form past experiences sometimes we were forced to deal with the same ignorance in Boston because Randi could not be admitted under the care of her doctors due to age and/or not all of her specialists were located at the same hospital. Clearly knowing the cause of this latest set back, once Randi's IV antibiotics were switched, we opted to go home. Before doing so Randi had a last minute procedure to change her picc line that was determined from initial x-rays to be curled up and withdrawn from its original placement and proper position. Since she'd had it in place for over a year it was due for replacement anyway. We hadn't been able to draw blood from the line in months, only infuse.
Randi rallied back and was able to enjoy her "shrek" birthday party with family and friends on May 27th.
We had a week long Boston medical trip planned for the first week in June. Randi wanted to visit the Science Museum in Boston so we left a day early and made it a special day to remember. The week went along as planned until the last day. We had a gastric emptying scan scheduled for Brooke in radiology, for the first thing in the morning. With this being the last appointment, on top of getting Randi medicated and set to go, we needed to pack all of our belongings in the car before we left the room. This was a major ordeal early in the morning for everyone! When we arrived in radiology we were told Brooke didn't have an appointment. I was ready to lose it! Of course no doctors office was open yet due to the early hour. I had tried to place a phone call to our G.i. office to see what was going on. We weren't leaving, Brooke was going to have her test! Once radiology was able to speak with our physician they informed us they'd fit Brooke in at some point in the morning. So we waited and waited. Finally just when they were ready to take Brooke in for her scan I start hearing beeping on my cell phone. I had to leave the girls and go down the hall to use my phone. I had received several phone calls. I knew something was wrong. When I tried to retrieve my calls I only got bits and pieces of information. However, because our renal doctor's office made the majority of the calls I knew exactly what was wrong. Eventually I got a message out to the resident doctor in nephrology and she returned my phone call. Randi's potassium level, from the night before, was critical. This was serious as a critical potassium level can lead to death. Once in the past Randi had become paralyzed due to a critically low potassium level. It was imperative that Randi have her potassium level drawn and assessed every other day. This meant I had to draw her blood and bring it to the lab no matter where we were. Although I carried a large bag with me, wherever we went, containing everything we might possibly need for Randi's care I didn't have extra potassium with me since I added it to her IV feeding bags twice a day. We had to stop everything, drag Randi and Brooke back to the hotel, dig through the car and find the potassium. I guesstimated a dose based on past experiences. I needed to draw more blood before we left and have the nephrologist call us with the results on the way home so we knew what Randi's level was and how to proceed with her doses. I would need another lab slip for this. The nephrologist's office was in a separate building blocks away. We neede to get back to the radiology department for her gastric emptying scan. I was not going there to get a lab slip at this point in time so we went to our mito doctor's office to explain the situation and obtain a lab slip. Whenever anything out of the ordinary came up while in Boston we turned to him. While there Randi's pain pump alarm went off it was time to change her bag and tubing out as well. It was also time to medicate via j-tube. I just broke down crying, this was all to much!
These medical trips, in the end especially, were as close to undo-able as it gets! I realized and had made mention to a number of our doctors that I felt this was probably Randi's last Boston trip. It was evident it was just too much for her. It was common for her potassium to crash, despite replenishing daily in large amounts, if she underwent surgery or was very ill but this time stress alone seemed to be the cause. Although we'd devoted years of time, energy and money to ensure Randi always had the best medical care possible in the end she was too ill to benefit from our efforts. We were told Randi could not remain on the two IV antibiotics that she was currently on since they were both known toxins to the body. In fact I was drawing labs specifically to monitor their side effects around the clock daily as well. We were told Randi had few options left for antibiotics to fight her j-tube infections. When doctors did force Randi off the two antibiotics, they placed her back on an antibiotic she had failed on only a month earlier. Randi and I viewed this as a death sentence. Sure enough, within days of the antibiotic switch Randi's j-tube site infection had worsened. With every relapse of these infections it took its toll on Randi. Based upon research Randi had done on her own she wanted to try maggot wound therapy. I made phone calls and found that there were doctors at Tufts, in the infectious disease department, that were willing to see Randi right away and evaluate her for such therapy.
I emphasized when making the appointment how ill Randi was and that we did not want to make another trip to Boston unless they felt certain there was something more they could offer Randi. After consulting with the infectious disease doctor to ensure this would not be a wasted trip Randi was scheduled to see two doctors, the infectiuos disease specialist and a surgeon. I made it clear we were not considering any further surgeries. Keeping in mind Randi did not do well during our last medical trip I was hesitant. None the less we both knew this was likely her last chance as all other options had run out. If Randi was willing so was I, there's nothing I wouldn't do for my children! Besides we welcomed any sort of natural medicine vs. man made. Maybe we could still get this infection under control after all. So off we were on yet one more medical trip. This trip would be more focused and only involve one day of appointments vs. a whole weeks worth.
Brooke needed to have a cortisol stress test the next time we were in Boston so that was set up as well. Brooke's baseline corisol level was found to be very low, same as discovered in Randi a few years earlier.
The infectious disease specialist was very open minded. Although she felt maggott wound therapy would not benefit Randi because her severe immune deficiencies were the root cause of these never ending infections vs. the actual woulnd itself she was willing to help us deal with Randi's chronic j-tube infections. Since Randi's immunologist had bowed out of the picture in regard to Randi's chronic infections, soley due to Randi's age, this was most welcomed. We discussed our only other option which was to have surgery to remove the j-tube and exclusively use intravenous access for all hydration, nutrition and meds. We had pondered this idea in the past but for a number of reasons felt it was not in Randi's best interest. The biggest factor being a number of the medications Randi relied on and were crucial to her well being were not available in an IV form. Probiotics being the biggest concern. The infectious disease doctor conferred that patients who were reliant on probiotics at high doses, as Randi was, did not have a favorable outcome when faced with this scenario. It was also noted during the office visit that Randi had a low grade fever. This was not a good sign, it meant something was brewing but I let the doctor know Randi had been running a low grade fever on/ off since the surgery in February. Randi had vomited a few times over the last several days as well but she was sure it was nothing more than her severe allergies causing post nasal drip. Due to her total gastroperisis any secretions swalloed caused Randi to vomit. In retrospect, however, there's no doubt that this was the beginning of the end.
If we were going to make the 5 hour plus medical trip we decided to tempt fate and go to Maine for a few days after the appointments. Maine is only an hour and a half from Boston. The girls and I so love the ocean. I knew it would be stretching the limits but I also felt it would likely be Randi's last chance to see the ocean. Little did I know just how true that was, these ended up literally being the last two days of Randi's life we could have got her to the ocean.
A few weeks earlier I had taken Randi to the movies. Since we were forced to go to a late afternoon showing I became ill while at the movies and had a hard time fulfilling my promise to take Randi to the movies that day. She knew it was hard on me but she said she was glad I brought her because she really needed to get out of the house. I kept that in mind and we agreed that if you're going to be ill, you're going to be ill and sometimes you may as well be somewhere that is pleasant and can take your mind off things for a while.
While in Maine both Randi and Brooke ended up spending the majority of their time in bed. Brooke's stomach pains and nausea were ever increasing as well. Having a room right on the ocean allowed me to have the windows and doors open so the girls could enjoy the ocean from their bed. Gazing out at the ocean from the door step where I sat I placed phone calls to Chicago. Randi had finally been referred by her endocrinologist for further workup of her hypercalciuria. I was arranging for specialized testing we would perform when we got home and send via mail to be annalyzed by specialists who dealt specifically with kdiney stones. We had just spent thousands of dollars consulting long distance with the best parathyroid specialists in this country in efforts to rule this out as the cause of Randi's high calcium levels which now were not only in her urine but blood as well.
We made short trips to get something to eat and down to the ocean. Brooke and I helped Randi walk to the ocean's edge so she could get her feet wet. We sat on the beach for a little while. Randi played in the sand a bit, something she loved to do. At that time she mentioned that her back pain was worsened but we both chalked it up to sitting upright for longer than Randi was used to. It wasn't uncommon for Randi to experience muscular cramping and spasming. Later that evening we took a walk down to the pier, Randi in her wheelchair. After about an hour Randi began to cry saying her back was hurting awful. Eventhough it was not like Randi to cry and complain, I'll admit I didn't think it was anything serious at first. I was upset because I wanted for us to enjoy our last night at the ocean. Randi did not sleep well throughout the night and by 3:00 am she was crying again. I took her temperature and it was high, something was very wrong. We had been through too many bad experiences that ended up being critical when ever Randi presented with a high fever. I woke Brooke and we both grabbed a quick shower, We hurriedly packed the car and headed back to Tufts Medical Center in Boston, where we'd been two days earlier. It was Thursday July 1st, just before July fourth weekend. The ER staff told us Randi would need to be seen in the adult section of the ER vs, pediatric where she is generally seen because of the holiday and staff shortage. We were told Randi would still have a pediatrician in charge of her care. One of the first things that they did was to order a new IV antibiotic but no one informed me of this. When the nurse came to administer the antibiotic I questioned this since I was already administering her two separate daily IV antibiotics. Its a good thing I did question things because they were ready to give Randi the exact antibiotic that almost killed her a little over a month earlier due to toxicity of her bone marrow. Randi lied there all day writhing in pain and only once did they give her anything more than what she arrived in the ER on as her usual pain med to ease her pain. All of our doctors were on vacation. The infectious disease doctor we had met two days earlier had her on call physicians examine Randi. Renal on call was also consulted. A CT without contrast was performed and it did show a number of small stones as usual but we were told there didn't appear to be any blockages. I was quite sure it was a kidney stone to blame. There were no other new symptoms that would lead us to believe otherwise. Blood cultures were also drawn. By 9:00 pm a nurse announced Randi would be admitted to the ICU for observation. I was told I would not be allowed to stay with Randi since she was going to the ICU. The only reason Randi was being placed in the ICU was because of her pain pump, which was hospital policy. From the time we arrived in the ER, I made it well known to all staff what our circumstances were. We were on our way home from a medical trip and visit to the ocean and therefore Brooke was with us and I could not leave Brooke alone as she required 24/7 care and supervision also. First of all, I was NEVER leaving Randi alone in a hospital! After all of our hospital experiences not a chance! Who would administer all of her meds.? No nursing staff in any hospital had ever been able to do this. There were so many reasons this was not an option. They suggested I find a room in a nearby hotel for Brooke, leave her there alone and I could sit in the hallway outside of the ICU. I was about to lose it! I asked to speak with the nurse manager, certain they would be willing to help us. I was greeted by two women, one claiming to be the nurse manager. They wasted no time in telling me nothing was going to change. I explained how all 3 of us were ill and this was unacceptable. Then they demanded I tell them which form of mitochondrial disease we have. I explained our family had a one of a kind form but they insisted I provide an exact name for our form. Then, In a very vindictive tone, one of them stated, "You're Dr. K's patients aren't you." She was referring to our mito specialist. It was a well known fact, which we've discussed with our mito specialist in the past numerous times, that admissions for adult mito patients was very complicated and hard to arrange. Rarely do I lose it but I'd been up half the night before, we'd been in the ER for more than twelve hours. I'd already made several trips to our car to drag Randi's supplies in for the admission. Randi was very ill and no one had done anything to help her all day. My adrenaline was pumping. I started screaming and packing everything up. I placed a call to our local mito specialist to ensure someone would be around over the holiday weekend to help us out before we headed for home. It wouldn't have mattered there was no way we were staying there but I didn't want to end up in our local ER upon returning home either. We faced a several hour ride home. I really did not know if I could do this. Never was I so tired while driving in my life! We had to stop to medicate frequently, it was so exhausting and Randi was so sick and in so much pain. One more nightmare situation all because of the lack of appropriate medical care for mito patients! I told everyone involved I'd rather take the chance of dying in a car accident than staying and being subjected to anymore of this kind of treatment.
The next day our local mito specialist increased Randi's pain medication.
I was busy getting ready for Brooke's birthday, which was July 5th but we were celebrating it on the 4th, when the phone rang. The caller ID said Tufts Medical Center. I knew what this meant before ever picking up the phone. It was someone from the lab letting me know Randi had a positive blood culture. They explained that the culture was very slow growing and contained thin gram negative rods they'd never seen before. The hope was that this was just a contaminated culture. We wouldn't know for sure until they could identify the organism after further incubation. Had the day we'd always dreaded finally come? Did Randi have sepsis? We had always been told by the girl's immunologists to never have any thing implanted in them due to their severe immune deficiencies for fear of sepsis. We were also told it was likely neither girl could ever survive sepsis for the same reason. Randi seemed to be holding her own if this truly was sepsis. I thought maybe since she was already on IV antibiotics she'd have a fighting chance. She got to enjoy her sisters birthday and the next day her overall condition worsened so I phoned our local mito specialist. Tufts still did not have the final organism identification. We were advised to obtain blood cultures locally in an effort to try and obtain a better culture for identification. Meanwhile Randi had another IV antibiotic added to her regimen and we decided to try and handle things at home for now. For the next few days Randi's condition waxed and waned. By July 10th it was clear we needed to go to the ER. I was pretty sure this was the end but I also wanted to give Randi every last chance possible. I decided to take Randi back to Albany Med for a number of reasons the biggest factor being Randi did not want to die in a hospital. Being critically ill, it would be much easier to get her home from a one and a half hour trip vs. a several hour trip. Randi's new infectious diseases doctor would be consulting with our local mito specialist and the last admission to Albany Med was not so bad.
Things had been resolved with Tufts after our last ER visit and I was assured we would never be treated like we were again. Besides writing a letter I spoke with patient relations as well as every one of our physicians at Tufts who in turn spoke with heads of the hospital. Therefore, I felt comfortable going back to Boston but under the current circumstances thought Albany Med. would be fine.
Albany Med.'s ER was on top of everything. Randi had the same ER nurse she'd seen a few months earlier. The ER doctor's consulted with our infectious disease specialist in Boston as well as our local mito specialist at Albany Med. The only problem that arose while in the ER was they didn't have one of Randi's IV antibiotics in the hospital. It was the only antibiotic left, at this point in time, that was effective for her j-tube infection. We could not risk this infection relapsing so I had to call home and have my son make a special trip down with Randi's week supply of IV antibiotics.
It was after midnight when Randi got to her hospital room. This was another all day adventure which I embarked upon on as soon as I awoke the previous day at 5:00 am.
It was Sunday so we never saw a doctor until approximately 2:00 pm. The doctor marched into the room followed by two other individuals and confronted me to my face. To my knowledge, I had never met any of these people before so I wasn't sure what this was all about. First she asked if I was aware of Albany Med's medication policy. I said, "Randi was admitted approximately two months earlier and there weren't any issues. I acknowledge it is customary for the hospital's pharmacy to check over medications brought in from home and I am fine with that. Further more I've always administer my daughter's medications while in every hospital she's ever been in.simply because it is impossible for nursing staff to do so." I wish I could have relinquished this task to nursing staff. The reality was there were so many medications and the frequency with which they were given made this impossible for nursing staff. Also, it was imperative that Randi received her medications when they were due. To that the doctor replied, "Well, somehow that was slipped past me because I would not have allowed that." Next, I was asked if I was aware of Albany Meds. visitation times. I was shocked, what was this all about? Randi was gravely ill, I was just trying to hold it together and these people whom I've never done anything to are attacking me, why? I fired back with, "You don't want to go there, do you, do you really?" I pressed her for a response as I was not taking this! Are you telling me I can't stay with my daughter, are you, are you? The doctor's reply was a hesitant no you can't then they all quickly exited the room. Randi was gravely ill, she was developmentally disabled, legally blind, needed assistance with everything, had extremely comlex and complicated problems that only I knew about! I didn't know what to do. I placed a call to Randi's local mito specialist at Albany Med. While I was on the phone the doctor returned to Randi's room. I asked her what her name was so I could convey that information to our specialist. The doctor asked me who I was speaking with and I told her Randi's mito specialist's RN. I tried to explain how Randi's mito specialist worked at Albany Med. and he could vouch for Randi's needs and that he should be consulted. The doctor stated," If she has a doctor here at Albany Med where the hell is he?" I didn't know if I should stay or take Randi and go to Boston. I still felt it unwise to travel such a distance with Randi so ill. We'd already invested 2 days at Albany Med. and hadn't gotten anywhere. If we went to Boston we'd have to start all over going through their ER . The nurse manager came back in and told me they decided I could stay with Randi and that we should just forget about the whole incident. When she left the room Randi pipes up and says, "Yeah right, they think I am dumb and I don't understand what they are saying and doing, its not right."
Randi's medications were all taken from us and we were guaranteed that there would be no more than a 15 minute window from the time her meds. were due until she received them. The nurse manager said I might be adding to Randi's illness by over medicating her. There was absolutely no reason for her to make this accusation. Every single medication Randi took was prescribed by her speicalists. In fact there were other medications that were prescibed that we refused to use or were unable financially to obtain. After being put through the accusations of Meunchaunsen's once, I vowed to never, ever, let anybody treat me like that again. Things settled down a little until the nurse came with Randi's next dose of medications a short time later. First the nurse didn't have all of Randi's scheduled medications. Randi was on two separate forms of potassium, each given for a different reason. One was for her severe hypokalemia the other for her kidney stones. The nurse said the doctor ordered the potassium stopped since Randi would be receiving it via IV. I demanded the nurse page the doctor to straighten this out. We could no longer get meds., nutrition or hydration in via Randi's j-tube. Any attempt at using her j-tube brought upon hours of retching. This was a major problem because not all medications came in an IV form. Randi and I agreed to keep trying to get the the few crucial medications in her via her J-tube that could not be administered IV. It was heartbreaking to keep putting her through this agony every few hours. If we couldn't get these medications in we knew it would lead to further serious problems for Randi at a time she desperately needed each and every one of these medications. Then the nurse drops the anti nausea medication on the floor, the only small pill Randi took orally, since it could not be crushed, dissolved or administerd in any other way. She picks it up and hands it to me telling me I can give it to Randi now. I took it and threw it in the garbage. I said, "Are you crazy! What's wrong with you? My daughter has sepsis already and you want me to give her something off the floor." She immediately dove into the garbage can after the med. stating, "You can't do that its a controlled substance." She leaves the room only to have the nurse manager come in telling me they are writing me up for harassing the nurse. WOW!!! Does anyone take responsibility for their actions! At this point I demanded Randi's medications be returned to us. I'd had it, I really thought we needed to go to Boston. And, once again I go over every thing in my head weighing everything involved. I look at Randi and I ask her what she wants to do. She is as upset and hurt as I am. I placed another call to our local mito specialist to see if they can please intervene because I could not tolerate any more and was at my wits end!
Later that night the doctor came to me after she had time to review Randi's medical history and problem list which I provided her. She amitted I knew what I was talking about. Great, but it was already too late. Initially, nobody would listen to me about the need for Randi to receive large daily doses of potassium replacement and the need to draw these levels to assess. Now her potassium was critical and they would have to run bag after bag of it IV. The problem was she had so many other bags of nutrition, and IV antibiotics to run that there literally was not enough time in the day and night despite running them non stop to infuse all of them. Then I was asked to chose what she would receive and when. The next day a nurse brought Randi's medications into the room and told me I could have them back. They were catching on!
Everyday blood cultures were drawn, at least twice daily, and with every culture one more different rare organism was confirmed.
Making matters worse the infectious disease doctor at Albany Med., who was consulting with our new infectious disease doctor in Boston, was the jerk that we met a few months earlier during Randi's previuos hospitalization. I asked that he not be involved in randi's care and we were told he had to be because he was Albany's best. If Randi could not even remain infection free on IV antibiotics for the past 2 years, how was she to come off them? There was no reasoning or even rational conversing with this man. We'd run into doctors like this in the past and eventually most of them had come to realize although my children never fit the norm their unique presentations and responses were real. Unfortunately, we didn't have the time to prove this to this man nor would I have wanted to waste my time doing so.
Then Randi and I brought to everyone's attention that the arm her picc line was in was very swollen and hard. Ulrasound documented 2 blood clots. The line was pulled and the tip cultured. The three organisms that had been identified to date, were on the tip of the line. With no other options we had to place another line immediately. Randi reiterated that when the infected line was placed during her last admission at Albany Med. she felt the staff was acting reckless and haphassard. She was adament about this. I was not allowed to go into the room with her but she told me as soon as I joined her afterward. I had always accompanied Randi all other times when her lines were placed.
The next day brought more bad news. I was being asked for permission to give Randi a blood transfusion, something we had always feared given Randi's immune dyfunction and the known reactions to IV IGG. We decided to wait a day and see if her red blood cell count might come back up on its own. Unfortunately, that wasn't the case and we forged ahead with the transfusion. Luckily, Randi didn't experience any obvious problems. That was good because she required anothertransfusion the next day as well. I didn't know how Randi had hung in there this long. She was so sick and weak. We were forced to stop j-tube feeds on the Saturday night Randi was admitted. It had taken four days for any IV nutrition to be ordered and started. No nutrition of any sort for four days in a critically ill patient. I also asked for Randi to be given hydrocortisone due to her adrenal insufficiency. The doctor's response was, " If she were in the ICU I would." How much sicker did Randi need to be before someone realized how gravely ill she was. I had always feared and predicted that someday Randi and or Brooke would die from an infection because they do not present normally with infections and by the time someone acknowledged this and figured it out it would be too late.
By Thursday we were ready to leave it was clear there was nothing more that they could do for Randi in the hospital that we couldn't do for her at home where she'd be much more comfortable. Each blood culture result grew a new organism. I knew Randi's immune system was incapable of fighting one blood borne organism let alone several. Her immune system had finally failed it was best to take her home. Although the infectious disease doctor thought her heart had to be harboring the organisms in order for the antibiotics not to be working, an usltrasound did not indicate this. I knew it was simply the end, what we had always knew would happen someday. Nobody took the severity of Randi's illness seriously until now. Even at this point Randi and I still didn't feel everyone was on the same page. Randi and I asked for hospice but were told we didn't need it. Both Randi and I were unsure of what was to come and thought we'd feel better with hospice on board. Instead of receiving compassinate care and understanding in her greatest time of crisis and need she had to endure a nightmare during her last hospitalization. We could accept there was nothing further that could be done. What we could not accept was the lack of appropriate medical care and support!!!
Early Friday morning I placed a call to our infectious disease doctor in Boston to discuss everything. She was upfront with me and said she was going on vacation for a week and she hoped we would talk when she returned but that she doubted Randi would make it that long. She explained that one of the organisms Randi had, of the several, was in itslef almost always fatal. Just that morning we discoverd all of Randi's extremeities to be rock hard and swollen. She said that was a bad sign and to be expected as part of what sepsis with acenitobacter causes. After placing a call to our local mito specialist letting him know we needed for him to write orders for at home so we could leave, I sat and talked to Randi. I let her know what our Boston specialist had said. Randi then told me she already knew she was dying because her uncle Mike had come to her, telling her everything was going to be alright. She hadn't shared this with me until now although she'd known before we ever went to the hospital. Randi had a connection with the other side and was very intrigued by such. My brother, Michael, had passed away at the age of 27. Randi was nine years old at the time. Shortly after his passing Randi saw his face and he told her that everything was going to be alright. Prior to a family members passing, Randi would see Mike. He would tell her that everything was going to be alright. I started to cry and by then our mito specialsit had arrived with his RN. They quickly took care of everything we needed so we could leave. I was overwhelmed. I was so used to Randi's old schedule that I had performed over and over for the past three years. Nothing was the same now that she exclusively used IV's for everything. We could do this, afterall we'd provided Randi with 24/7 RN level care at home for the past 2 years basically all alone. Randi's brother would help me with the nightly IV infusions so I could catch a little rest. Neither Randi or I had gotten mcuh more than a few hours sleep each night the entire week she was admitted. Brooke was also helpful she gave Randi her bed baths and was good company for Randi. I was familiar with a lot of different scenarios as to how Randi's final days may play out. I could only hope that a situation would not arise that would force us into a hospital situation that neither of us ever wanted to go through again.
Before leaving, the doctor who was assigned to Randi that had been so vindictive initially towards us gave Randi a hug and wished us the best. It seemed she finally understood, most doctor's eventually come to understand but as usual, it came at Randi's expense and this time it was too late!
Once we were discharged, as was customary, I asked Randi if I could get her something special to taste. She asked for cheese pizza but I couldn't find any quickly so she had to settle for a milkshake. Unfortunately, she was so sick that even attempting to taste brought about the horrid wretching she'd experienced over the past week. I just had to get her home as quickly as possible. Upon arriving home we got her into bed immediately. We both needed to catch up on a lot of sleep. That was the best thing Randi could do, sleep. Family and friends were called and told that Randi was brought home to die. For the next four days she only awoke for 2-3 hours each day and even then she would go in and out of conciuosness. This was a good thing given her condition. During her waking hours family and friends stopped by to visit. My mom and dad's 50th wedding anniversary was in a few months and we had talked about getting a family picture. We are fortunate to have a friend who is a photographer who was able to come to our home on short notice to capture a family photos for us.
A few days after being home I received a frantic phone call form Albany Meds lab. It was a physician demanding I drop everything and immediately bring Randi back to Albany Med. because she had a positive blood culture. I tried to explain to her that we had taken Randi home to die and that she already had sepsis with multiple organisms as she continued to argue with me. You would think that this would be noted in her chart somewhere and also they'd have our doctor's number for contact in such situations. I was still drawing labs and blood cultures on a daily basis and bringing them to our local hospital. I received a phone call form that lab also with yet another positive blood borne infection. This time it was a systemic yeast infection.
Randi's last four days were anyhting but restful. Her heart rate, blood pressure and breathing were all abnormally high. It was as if she were running a marathon non-stop. I knew she could not keep up at this pace for long.
By the fourth day, Sunday July 25th, it was clear Randi was very aggitated. she had been unable to sleep much during the night. I drew her labs and headed to the hospital. My son had been delivering the labs to the hospital for the past few days. I did not want to leave Randi knowing she could need my help or pass anytime.
I feared if something happened while I was away someone might panic and call 911, but this morning I just had to get away. Driving home from the hospital I said to myself, why am I continuing to torture Randi with these daily blood cultures. I made the decision that there would be no more. Brooke and I tried to comfort Randi with various things throughout the day but nothing helped she just held her abdomen writhed in pain, moaning and groaning. This was the fourth day Randi struggled to keep up with the out of control pace of her heart , blood pressure and breathing. I prayed to God to take Randi and spare her anymore pain and suffering. Our local mito specialist called in the afternoon to let me know about Randi's critical lab values. He said he'd increase Randi's pain medication the next day. I told him I didn't think Randi would still be here by then. I began Randi's nightly medication ritual a little early just to do something for her. She got up onto her side in bed and was swishing her mouth with water after taking all of her inhalers. My mom was over to visit and asked Randi again, "Is there anything I can get for you or do for you. Randi's reply, "I still want to see Justin." I went to dump out the basin and by the time I returned, two minutes later, Randi had gone back down in bed and was shaking uncontrollably. Randi couldn't tell us if she was cold which was doubtful as it was oppressively hot outside. However, she had drawn her comforter around her. I calmly sat beside her and held her. What ever was happening I felt sure was the beginning of the end. Brooke joined us and the children's other grandmother, who had just called to check on Randi's condition came right away to see Randi. Since their grandmother was very upset she felt it was best to leave. Brooke, Drew, Blackberry and I all sat with Randi. We told her we loved her and stroked her hair. Drew lifted blackberry up onto Randi's bed and he gave Randi a couple of big sloppy kisses. A few minutes later Randi said she needed to get onto her back then she said she needed to sit up higher in bed . Drew and I helped boost.her up. Next she said she was going to be sick so I reached for her basin and that was it. My sweet angel baby was on her way to heaven! Randi let us know that everything was alright by the big perfect smile that came over her face. We called my mom and dad over and we all just sat peacefully with Randi for quite a while. Watching and waiting for a loved one to pass is not easy but I know we made the right decision to have Randi at home during this difficult time. I did not want an autopsy or for Randi to be embalmed. I didn't want anyone doing anything to Randi ever again! She'd been through far too much in her lifetime!
I was very tired , I'd been running on empty for quite some time. I was able to sleep for a while anyway. Even though I had shut off the monitor, I'd had at my bedside for the past three years enabling me to hear Randi, as well as the alarm clocks I'd used to ensure I got up for middle of the night medicating, I awoke at 2:00am Randi's usual medication time. Now I couldn't sleep so I wrote a letter and faxed it to to all of Randi's specialists in Boston. It was all over, everything we'd done for Randi for the past 28 years didn't matter any more. I would still have continued to do it all in a heartbeat but I couldn't ask Randi to go on suffering. Essentially she'd known pain her whole life. She began describing it as soon as she could talk. As anyone who's been through the death of a loved one can tell you, the days that follow are just a whirlwind of events that you are too numb to fully focus on. Family and friends gathered and we held a beautiful celebration of Randi's life. Her teachers along with one of her aides were the speakers as they knew Randi better than anyone else. There was a slide show containing pictures of Randi's special life accompanied by some of her favorite songs. My mom thought of having balloons at the cemetery to release after the services which was a wonderful added touch. Randi's body was laid to rest next to my brother, whom she shared such a strong bond with, in our families hometown burial plot. While preparing, the day before Randi's funeral for a gathering of guests after the funeral, I dropped everything and ran to the store to get decorations. I had remembered Randi always saying parties without decorations are boring. She loved color and decorations. Her celebration could not be without such things. Randi's passing was not a surprise but none the less an unequivocal forever life altering experience. I believe our soul is who we are and lives on outside of our earthly bodies. Randi is a very unique, beautiful, innocent, loving soul who deeply touched and enriched the lives of everyone who knew her! I have no doubt, as did Randi,that she is in a very good place. God didn't intend for Randi to exist on earth for long. When putting everything into perspective, such as death is a natural part of life and Randi was a shared gift from God, I can accept her passing. What a parent can never do is stop longing to be with their child once again! Afterward you can get caught up in all the what ifs. In Randi's case there were so many of those! Despite all of this, it clearly was her time. Her multiple unexplainable and untreatable problems had all come to a critical point. What Randi nor I could accept was the horrendously poor medical care Randi had to endure! A great deal of the turmoil stemmed directly from the fact we were continually forced to deal with doctors who knew nothing about Randi or the extremely complex diseases she suffered from. Beyond that there were still so many mistakes made that had absolutely nothing directly to do with her disease. I could go on and on, providing numerous examples based on Randi's last hospitalization alone. Current health care is atrocious, to a degree that it sickens me! Going into the hospitalization we knew If Randi was to have any chance whatsoever everything would have had to gone perfectly. The shoddy haphassard care she received was far from that.! One incident in particular sealed her fate. The evening before discharge Randi's nurse informed us he had taken yet another critical value from the lab. Randi had a gram positive blood culture result. In the morning prior to discharge the I.D. doctor came strolling into the room with his arm around the nurse who had dropped Randi's medication on the floor the first day. It was odd and unprofessional the manner in which the two behaved, both exchanging smirks and little giggles. The I.D. doctor explained he was discontinuing the three antibiotics Randi was currently on and switching her to one based on the fact that all of her blood borne infections were gram negative. Randi and I looked at each other, remembering what her nurse had told us the night before. We questioned him. He fumbled with his piece of paper in between his unprofessional exchanges with the nurse and replied, "No they're all gram negative." Randi and I spoke after they left the room and came to the conclusion the nurse had mispoken or we didn't here him correctly. After Randi passed I requested and received a copy of her medical records which clearly showed Randi had a gram positive infection documented prior to us leaving the hospital. Randi and I trusted our other doctors to oversee Randi's care. How did at least three other doctors also miss this? I don't know what the answer is. Rarely do you find anyone working in the field who's not driven by or influenced by the bottom line, money, with disregard for the patient and their overall well being these days. Randi felt abandoned by her doctors. She felt they had resigned to letting her die without thoroughly looking into her ever increasing problems. A perfect example being her stage 4 endometriosis. A few months after Randi's passing I founded an organization which I appropriately named Mito Hope and Help. These were the two things Randi never had and the two things all mitochondrial patients need the most!
Mito patients require specialized care provided by numerous specialists, who are also knowledgeable about mito, preferably all under one roof. You wouldn't go to your primary care to be treated for cancer so why should mito patients be left with this as their only option? Randi and I envisioned a special hospital, similar to St. Jude, just for mito patients of all ages. At the very least, its crucial for a mito specialist to always be directly in charge of a mito patients care, whether an inpatient or outpatient. With the tremendous lack of trained mito specialists, who are usually metabolic doctors or geneticists that is impossible. Its also an overwhelming burden for the specialist and his or her staff to attempt to assist with daily care since it is not typical for a specialist to provide ongoing daily care. Just like there are cancer specialists why not mito specialist that don't only diagnose but oversee and provide daily care. The mito community has a long way to go before any of these things are reality, unfortunately. Meanwhile mito patients and their families bare the brunt of the dysfunctional, detrimental, medical care that presently exists for mito patients. Several years ago, with the arrival of our new local mito specialist, more and more individuals are finally being diagnosed with mito. In addition to the Morrison family who established the first local foundation to begin addressing issues relevant to the mito community, the Perrotta family also joined forces after the passing of their amazing daughter Amanda. With the exception of the Morrisons, whom we met 4 years ago by chance, we never knew of any other local families or individuals with mito until three years ago when the first annual mito conference was held in Albany NY. Next month we hold our 3rd annual local mito conference in upstate NY. Passionately driven, by the losses of our beloved children, we unite as a mito community and demand our voices be heard! The devastating affects of this disease on our family are far from over. Brooke continues to develop many of the same symptoms her sister did in the last few years such as; a low cortisol level, low and high swings in glucose, high serum calcium level, neuropathies in her extremities with associated pains. Besides all of the previously mentioned G.I. problems Brooke has had to deal with for the past year her ability to get nutrition and hydration in continues to dwindle slowly but surely. Its not all due to the chronic nausea, diarrhea and stomach pains alone. Whenever she attempts to eat she becomes extremely bloated /full significantly limiting her intake. Although this would be the point where we would intervene with a tube or port to help maintain hydration and nutrition Brooke has chosen not to do so. After witnessing first hand what Randi went through Brooke would rather not prolong the inevitable with further pain and suffering. I fully agree with Brooke's decision. I do not mention much about my son, Drew, in the final chapter out of respect for his privacy. However, I can tell you he is also tortured by this life altering disease. After graduating he, like many other college graduates in these tough economic times, came home. Things happen for a reason and I am very grateful for his help with his sisters extensive care. Family and good friends are the most valuable and cherished gift on this earth! The toll mitochondrial disease takes on a family is not only measured by the physical and emotional impact. Financially it has destroyed our family as well! I debated about adding this personal information but I want everyone to understand just how devastating this disease is on a family. After Randi's passing I had to go through bankruptcy on top of everything else. I told myself I had nothing to be ashamed of because everything I did was for my children's well being and I wouild do it all over again if I had to! Repeatedly, for years , we asked for help with the costs of keeping both girls in our home vs. institutionalizing them. First of all let me say that was never an option we considered. However, what nobody cared to acknowledge was the staggering cost to the state if I had not provided the 24/7 RN level care Randi required. About a year before Randi passed I had had enough! I took a stand and I stopped paying our mortgage. I used that money, one thousand dollars, to reimburse my mom and dad for non covered medical expenses they had paid for the girls each month for years. Advocates for our family again approached the state for help on our behalf. Finally, for the first time, our family began receiving help with some of my daughter's extraordinary monthly non covered expenses related to their medical care. It was too little way too late , however. Well, here lies the rough outline for the "FINAL CHAPTER" of MY CHILDREN AND MITO. This is just the first step in the process. There's a lot to edit! There are things I have already realized I forgot and need to add in here and there. If and when I decide to continue, I will do it here.