Ok I realize it has been way too long since Ive updated. A lot has transpired since my lost post and as what has now become habit, I have been "sleeping on this one". Not because I dont want to share what is going on with us but sometimes Lydon's case just seems so complicated to explain. I dont ever want to post something that isnt true and sometimes I find myself regretting pushing that "Publish Post" button because it seems like almost as soon as I post something, just that quickly, things change with Lydon. These ups and downs are what makes his whole diagnosis so difficult. This whole scenario has become quite frustrating to me and honestly very hard to deal with. Which brings me to this post. I will preface this at this point by saying (aka warning you) that this post will probably be very long. I am going to try to update from our last hospital stay till now.
From the last update you all know that we were in hospital because Lydon had started running very high fever and we found that his J tube was out of place. In replacing this, anesthesia is used. This of course made us very nervous since Lydon has obviously had problems with anesthesia and intubation in the past. So, we met with the anesthesiologist prior to the procedure. We (Jonathan and I) explained to him Ly's recent results and that there had been some question in regards to the missing mito gene but that the previous neurologist didnt feel like Lydon had mitochondrial "disease". We told him how nervous we were about this procedure and Lydons previous reaction with intubation and anesthesia and would he please follow the same anesthesia precautions as before. He proceeded to tell us that he was comfortable using anesthesia that is not normally used with mito patients. We tried to "plead our case" with him but it was to no aveil. And, as luck would have it, they had trouble in the OR and before they could give report in the recovery room Lydon was in distress. Aggrevating to say least...I'll come back to this issue later.
We spent several more days in the hospital recovering from all of this and went home. Within days of being home however, Lydon started having tremors that were becoming increasingly frequent and alarming. We were referred to a new neuro to have this issue evaluated. When I spoke to the nurse about this we were sent back in to the hospital and readmitted. This new neuro met with us and looked over all of Lys previous testing. He explained to us that Lydons spinal tap that was done in SEPTEMBER showed a low neurotransmitter. This transmitter is responsible for signals involving speech and energy. Insert hand over open mouthed gasp...."Why imagine that!!" Futhermore, when its low, it can cause tremors. Needless to say, this was news to us but we quickly got over being irritated about not being informed sooner because we were so grateful to finally know that there was something else that we could do to help Lydon. All of these issues with the lack of energy,significant speech delay, tremors, GI issues, anesthesia issues were brought up with the new neuro in the hospital who assured us he would thoroughly look over Lydons chart. We had an appointment to follow up with him in clinic a few weeks ago and he kept his word. He sat down with me and everything he could put his hands on with Lydons name on it. He went through and showed me some of the most common diagnostic tools/tables that are used to diagnose mitochondrial disease. He actually "showed" me and didnt just tell me(or not tell me) what was important about all of Lydon's results. He said that he agreed with what genetics had told us months ago, that the missing gene associated with his chromosome deficiency IS an issue. There is no way (at this time) for us to prove that your body can work normally with only one copy. Obviously, Lydon only has one copy and his body is not working normally! He finished by telling me that Lydon has a definite mitochondrial disease (with a complex iv deficiency for those who are interested).
I left that appointment with more insight and emotion than I had planned on experiencing that day. It took me a few weeks to go through the plethora of emotion I felt with all of it. I was mad for weeks! Why were we told that there was no mito involvement causing any of Lydons problems when according to several different physicians opinions, diagnostic tests and more than one reference tool there is? Why were the anesthesia precautions so prematurely removed from his chart when he has had problems with respiratory distress and acidosis everytime? Why did my baby have to suffer unnecessarily?
Our new neuro couldnt answer all of these questions for me but he answered a lot of questions about Lydon and what is going on with him. He told us we should continue to see improvements in his speech and energy level from treating the neurotransmitter deficiency. He also started him on a combination of vitamins and supplements that should help him have a more constant energy supply and not have to work so hard to make more. He has been on all of this for about six weeks and we have seen some definite improvements. He is babbling a lot more and really trying to talk. He has had some really good days of late. In fact, a couple of times during the last two weeks or so, he has eaten pretty normally and made it almost all day with just a very short nap. He still has his issues. Last night he accidentally touch the top of the toaster and burned just the edge of two of his fingers. Within just a few minutes, he had vomited and spiked fever over 101 but after getting to bed early and sleeping a little extra, he woke up happy and energetic today. All in all, a lot of good has come from all of this. We had to go through a couple of roller coaster rides to get to the bottom of things but ultimately, we got there. We have what we feel like is a definitive diagnosis that makes sense. We now have a neurologist that doesnt require Lydon to meet certain criteria in order to continue treating him but instead will treat him regardless and continue to do what is in Lydons best interest. We have once again proven to ourselves that fighting for what you believe is usually the right thing to do. Its not always the easiest but it is worth it. We've had several other changes over the last two months, I will blog about more of that later, but everyone including Ly is adjusting and doing very well. The best news of all....We havent been in the hospital in almost two months!!! More to come later..