When I got home from NIH. I made an appointment with a podiatrist. After this appointment I started seeing things fall into place. The podiatrist looked at Bruce's Achilles and said that his flat feet wasn't the main problem. His Achilles in both legs was very short and before he would give Bruce orthotics he wanted Bruce to see an Orthopaedic Surgeon in Orlando that specializes Achilles lengthening surgery. OK!!! Very scary. We were looking at both legs and a long recovery time from what the podiatrist told us. But this woman is amazing and does them all the time. I made an appt for Bruce and got lucky it was 2 days later. The next day was an appointment with a Geneticist.
When I got home I started doing research on muscle diseases. After reviewing his muscle biopsy and looking things up that I have no idea what I was reading...things to me didn't look correct...not sure how I waded through it all but something was off. I made an appointment with a Geneticist. I thought it was going to take months but I got one within a few days. YAY!!!
The Geneticist looked at Bruces muscle biopsy and said the testing was vague... that he had mild mitochondrial proliferation meaning there was a problem they just couldn't identify it nor label it. They also didn't do all the testing that could of been done. So part of that muscle biopsy was inconclusive. You have got to be kidding me. 2 inches of flesh taken from Bruces thigh and its inconclusive! After a thorough review of Bruce their are some things that were off. His gait, Achilles, fatigue, toe walking, Gowers manuever, Cognitive problems, fatigue and muscle weakness. She decided to put Bruce on L-Carnintine and Coenzyme Q10. She felt that he was losing energy in his cells due to a mitochondrial disease. If she knew what disease he had she would put him on this little cocktail of vitamins anyways so we would try these and we would know if they work or not within 2 months. They either do or don't. 50/50 chance. Bruce Jr thought this was ridiculous. Vitamins? Their not going to work. But we started them immediately after some blood work was done. The Geneticist said that we would go ahead with genetic testing in about 3 months but it would be expensive...insurance doesn't always and most likely wont cover...but once again it one of those diseases that don't have to show something in lab work. So we take the vitamins.
In the mean time we go see the Orthopaedic surgeon who takes one look at Bruce and told us that we needed to see a neurologist. I said we already went to a neurologist in the very beginning, he said Bruce was fine in that department. She says, he is not and that she would make the appointment for us. It took a month to see the neurologist.
Bruce Sr and I decided to pull the plug on Bruces Remicade infusions and his MTX. The MTX was making it so hard for Bruce to concentrate..he was not speaking clearly. His words were getting all jumbled. Words were not coming out correctly. We saw no improvement with the Remicade...so what the heck. We had nothing to lose, it was obvious that it wasn't working. Before we did this we saw his Gastro Dr. who gave his blessing and said that it would be fine to stop the infusions. Bruces last colonoscopy was normal with no signs of disease... in fact a most probable remission. He understood where we were going with this. His colon doesn't work...It doesn't move unless he is given Myralax. 2 adult doses every day. If he doesn't get it one day, he wont go for 3 days. I kid you not. He thought the possibility of a muscle disease was a good road to go down because that might explain why his colon wont move, since its a big muscle. He is great. He said that going off the Remicade would not cause him to go into a flare. We would still continue to take the maintenance drug ASACOL and a lot of the times that's all kids need. We secretly wonder if he now had UC or if it was exacerbated by the medication and a bacteria build-up of onset of severe constipation.
We just saw the neurologist this past Thursday. Bruce has been off Remicade for 9 weeks. He has been on the vitamins for 8 weeks and we see much improvement. No wheelchair, He can bend, squat and move without pain, his fatigue is diminishing although he still tires and needs time to sit if needed.His muscles still hurt but anywhere near the pain he had before. His stomach ache is subsiding. He is thinking clearly except for the forgetfulness and Dysgraphia (cant write and put down thoughts at the same time) which the Neurologist says will always be there. The neurologist was pleased by the overall outcome. But in order to make sure we are doing everything for him we have done Genetic testing on him which is about 3,000.00. It will take 8 weeks. These tests will determine if he has one of 500 diseases out of 2000. Testing only knows 500. We then will take Bruce to Atlanta to see a Dr who will do another muscle biopsy and lumbar puncture. This Dr has the facility to look at fresh biopsies, because that's what you need and this is all he does. If its altered in anyway it becomes inconclusive, hence the last muscle biopsy. The Neuro said that with mitochondrial diseases a lumbar puncture needs special attention and she would send him to the best to get it done right so Bruce doesn't have to do any of this again.The only thing that will be difficult before we go to Atlanta is that he will have to be off all vitamins...which will probably not be good for Bruce and he will go back to feeling bad if not worse.
So a lot has changed... My husband and I feel like we have a plan and in a short amount of time have accomplished sooo much..I will go into greater detail of exactly what Mitochondrial disease is. I will also go into detail about how I feel about the last three years and how I feel..guilty,guilty,guilty
THIS DISEASE CAN mimic so many other diseases in the beginning. Through the Gene process we may be able to see exactly what sequence is out of place...hopefully