Its been a long time, I know, since we sent out an update. I appreciate your emails and phone calls and apologize to those that I haven’t responded to in a very timely mannerL Always seems to be so much going on, that when I have time to call people back or respond to emails its just too late at night!
Abby had her IVIG infusion yesterday and today and it was not a good infusion. Her port, which has been giving us some difficulty for the last 2 infusions has stopped working completely. Yesterday it was sluggish, and the nurse called the Home Health supervisor to try and get some tpa orderd and put in it (which is a substance that can be put in the port and left there for a little bit to try and dissolve clots that could be forming in order to save the line – its like heavy duty heparin). I had an appointment yesterday afternoon for a procedure to stop pain in my si joint. When I left we were waiting for the call back from HH to get the tpa, which, silly me, I thought would be a priority. But they did not respond and this morning when the nurse got here, we could not use the port at all. We placed a peripheral IV (which took 5 sticks to finally get), I called the surgeon who said she wanted tpa put in the port (the first line of protocol in these situations, and which should have been handled last night) and then called home health to find out where the tpa was. It was a day of battle with home health and with insurance over this and other constant problems, and infusion finally ended at 8 tonight. We still have no tpa, and the port doesn’t work. It was a very painful 2 days for Abby and she was in tears several times today, which doesn’t happen often. She will need to have the port replaced before January 1st, and it will likely be next week. Her skin is broken down and the port is really sore around it from being manipulated and from leaking. We will talk to the surgeon tomorrow, but since it has not been heparanized to stop additional clotting, and since we cant flush it at all, we won’t be able to get tpa into it now, nor can we do a line study to try and save it. The battle with the home health company today (who is owned by our pharmaceutical insurance company), as well as battles today with them over unrelated medication approvals and issues, along with the pain and discouragement that we watched Abby face today, has left me wrecked. I hate this feeling of being emotionally tired – I would take physical fatigue over it any day. But it also made me realize that by not taking the time, or more accurately wanting to dump all this stuff on our friends and family, that I was feeling really alone, because it was impossible to “catch anyone up” on all the goings on medically for the last several months to even begin to explain how frustrated and tired from the battle that I feel. So, below is another FitzPatrick style abbreviated update – reader beware!
For the last year, Abby has had extremely high sed rates in all of her bloodwork but trips to countless specialists, that referred us to countless more specialists, revealed no cause for it. (The sed rate is an indicator of inflammation, but is non specific, and doesn’t tell you where the inflammation is). Along with the high sed rates, her fatigue levels increased over the last year + to a point where she had become very discouraged, and her quality of life had become significantly affected. After seeing many different specialists, we went back to Dr. Vidya, who is Abby’s pediatrician and also a geneticist, at the middle of September. We talked about the fatigue, the sed rates and other symptoms, and Abby shared with her how discouraged she was. She was only pushing through a school day by sheer will and determination, and would crash as soon as she walked in the door. She did not look well at all when we saw Dr. Vidya, and Dr. Vidya was concerned at her level of deterioration, both physically and emotionally. About 4 or 5 days after our appointment, I got an email from Dr. Vidya with a HUGE file attached that she asked me to look over, all on the methylenetetrahydrofolate reductase process in the body (also known as MTHFR). Turns out that after we left her office she started looking for possible causes of what was going on with Abby and thought this may fit. Long story short, this cycle is responsible for converting B vitamins into the forms of B vitamins that the body utilizes, but people with this gene mutation are missing an enzyme or part of an enzyme so the process doesn’t work. This can cause things like low serotonin levels and dopamine levels, cause increased homocysteine levels (which would account for the high sed rates) and for high levels of various toxins in the body because the cycle is responsible for breaking down toxins (metals, ammonia, etc) and taking them out. The MTHFR defect is linked to autism, aneurysms, diabetes, chronic fatigue, chronic pain, depression, blood clots, heart disease, miscarriages and colon cancer and a plethora of other issues. It appears as of right now to be totally unrelated and in addition to the mitochondrial disease. Abby was tested for the MTHFR mutation and some other related tests and was found to have a form of the mutation. There are about 10 more common forms, some of which are worse than others, and hers was about 4th down on the list. This mutation would also inhibit her some of the medications given to her for mito from working properly. By the time we got the testing done and back, and found out what was recommended to use to help treat it, it was the beginning of November. She began taking a form of Folinic Acid, which is the active form of the B Vitamin Folic Acid. We talked to the docs in Cleveland about all of this and they helped us find what to give her and prescribed the medication. Their words to us were that “if this works, the results will be rather profound, and we should go back to GA and hug Dr. Vidya for ever thinking of looking for this.” Well, we started her on the folinic acid on a Wednesday; by Friday morning, she was most definitely more like her old self. On Saturday, for the first time in I think at least a year, she got up in the morning, did some chores and stayed up the entire day, into the evening! I hadn’t realized how impacted she had become by the fatigue until it began to go back to more normal “mito” fatigue.
Many of you know that I have struggled with health issues of my own for the last couple of years. Seems like one thing after another. We have talked about doing a biopsy or further testing for mito, its been ordered and I haven’t found the time or energy to move forward with it. Dr. Vidya, knowing that I have been struggling too, ordered the same MTHFR testing for me. The results came back and I too have the mutation, but unfortunately it’s the one at the top of the list for severity. I began taking the folinic acid too, and although it has helped, I will need to do some other things as well, all of which will take time to work through (you begin with a couple of different active forms of b vitamins, and then do more bloodwork after about 3 months; if some areas have improved, then you move on to adding in different medications). I am just learning about all of this and it’s a bit overwhelming – but basically the beginning of the cycle, as I understand it, is affected in Abby. In my case, it’s the beginning and the end of the cycle. Dr. Vidya recommended that I tell my family so that they too could be tested, since some of this can be helped with the proper medication. As of now, two of my nieces have been tested, and both have the same mutation Abby has. Apparently what happens is that when people who don’t have another underlying illness hit about 40 or 45, they begin to get sick much more than they ever did before, with things that are seemingly unrelated, and they stay sicker longer. The theory is that the toxins that we all get from food, or environment or water or whatever build up in the body because the mutation doesn’t allow the cycle to work to remove the toxins. As they build up, the body starts being overloaded with them and can’t function as its supposed to. I had very high levels of ammonia, as did Abby, which causes fatigue and brain fog. The newest addition to my B vitamin repertoire arrived today – Hydroxy B12, which is the active form of B12. Hoping this gives me another boost and I begin feeling even better!
Also in September, the four of us made our annual trek to the eye doctor for exams. It was discovered at that appointment that Abby was showing signs of color blindness, which had never been detected before. The signs that she was showing is also an indicator of a neuropathy, or a deterioration of the nerves. They told us we should mention it to the doctor, and come back in 3 months to have it re-checked. I guess it probably sounds foolish to some, but I really wasn’t all that concerned about it – our plates were pretty full with the fatigue, and her feeling awful, and getting ready for a trip to Cleveland, and then the MTHFR stuff. And since we discovered in the spring that she had lost all the feeling in the majority of her back indicating that the neuropathy had worsened, then it seemed logical that she would have signs of it in other places. About 6 weeks ago, Abby started complaining every now and again about headaches in the back of her head, but it was just a few times and could have been anything, so we gave her ibuprofen and that was that. A week and a half ago we went to see Dr. Vidya again to discuss the treatment plan for the MTHFR and do a catch up appointment on all that has gone on, and where we stand with all the specialists, etc. At that appointment we told Dr. Vidya about the eye doctor, and Dr. Vidya asked if Abby had been having headaches. Abby told her yes, in the back of her head. This was concerning to her, and she ordered an MRI of the brain, which Abby had late last Friday. We don’t have the results yet, because we haven’t had a chance to talk to Dr. V. in the last two days because of the infusion problems…But we are obviously anxious and would appreciate your thoughts as we await the results, as Abby comes to mind.
Last February Abby’s cecostomy tube was accidentally pulled out. We went to the ER and a resident put in a temporary foley cath to hold the tract open until the tube could be permanently replaced. Putting in the foley cath was very painful, and it was in for about a week, until the pain got so bad that she was readmitted to the hospital and the c tube was replaced surgically. Apparently the foley cath that was used was bigger than the c tube (which is why it was painful) and opened the tract up larger than it should have been. As a result, over the last 4 or 5 months, it began leaking and has become painful and difficult to manage. We saw the surgeon last week and are making a last ditch effort to prop the c tube up so it doesn’t pull on the skin anymore, and hopefully allow the hole to close up around the c tube. If it doesn’t work, then she will need to have the c tube replaced with a whole new tract, which means some invasive and painful abdominal surgery to place the c tube in a new spot as well as to mend the spot that it was in. We planned to give it until mid January to decide what to do, as the skin around her tube is breaking down and becoming very painful, not to mention that the leaking is much worse and becoming more noticeable. Given the port problems and the fact that its going to need to be replaced very soon, I am not sure if the surgeon will decide to go ahead and replace the c tube as well with a new tract, given that she would not want to put Abby under twice if it could be avoided, or if she will still wait and see if it can close up somewhat.
In the midst of the medical stuff, Abby started high school in August. That has been quite an enlightening experience for her, and not all that pleasant. I am amazed at the level of “mean” that some of these kids can aspire to. Guess I was naïve in thinking that by the time kids get to high school, they have somewhat matured, but this for the most part is definitely not the case. She has been too tired to get involved in anything, so has really not met or made any close friends, which has been tough for her. Once we began to understand the level of how bad some days were, we gave her the option of finding another way to get her education, whether we did a home schooling coop, or changed high schools within the county. Once again I have been blown away by her determination – she said that if she left then what would happen to other kids who faced the same thing? She has stuck it out and is determined to find her niche. All the while she has a straight A average. Like many others, because Abby doesn’t really look ill, I can forget how she must be feeling given her symptoms and issues. When we were in Cleveland in October, Dr. Mr. C. told Abby that the “first thing she needed to do was to reach around and pat herself on the back, because there are very few people suffering from the symptoms that she has that could get up and go to school almost daily.” And then he described, based on her MTHFR related bloodwork and sed rates, etc. how her body must feel. While I am not convinced that pushing through is always the best thing, I am in awe of her determination to not let this disease define her. She really is an inspiration to me.
There are so many in our community of family and friends who are hurting now – you all know who you are – from cancer to heart surgeries, from chronically ill to terminally ill to loss of those that you loved dearly. Not a day goes by that you are not held close to our hearts. Thank you for being there for us, and for continuing to hold our family close to your hearts. It means more than you can ever know.
Praying that this Christmas time finds us all cherishing and treasuring all things that matter most.
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