Mitochondrial Diseases Support Group

I have to agree with you about the testing. There were times I wanted to run every test possible to help my wife but then I realized that it would do us absolutely no good at all. The only thing I could do to make things as normal as possible for her was to (and please don't take this the wrong way) not tell her everything that I learned about this disease. My wife worried about everything and I thought that even though she deserved to know everything I did, she would just worry herself into having another stroke. I knew that eventually she would pass away because of this damn disease but I always tried to keep a positive attitude around her and I tried to do the little things for her that would of made her happy. I made absolutely sure that she was home for the holidays, and other special occasions, take her out shopping every other weekend, and go out to buy her little things once in awhile to just make her smile and feel good again.

I don't know if I did the right things for her or not but in my opinion it was the lesser of two evils.

Our genetics doctor basically told us the exact same thing yesterday. He is having difficulty pinpointing the mito mutation for our 5 year old. There is evidence that it may be MNGIE, but only one of the two diagnostic markers came back with that evidence. So it's not for sure. He said that no matter the type, it won't change the mito cocktail treatment or other treatments necessary and to simply wait 5 years or so for medicine to advance before pursing more indepth tests. He will continue to monitor our son. We go back in two months, but he isn't testing anything further at this time.
We simply go on and try our best to enjoy the time together. It's hard. For us, normal is phyical therapy, school (with modifications), church and as many activities that a five year old with a neuromuscular disorder can enjoy.
Tracy

I admire the way you tried to keep life as normal as possible. With a disease such as this, you never know what tomorrow will bring. Each day counts a little more.

They did find the exact mutation on my son's gene, but it makes no difference anyway since there is no cure for this disease. I feel so helpless that there is not much I can do. I am the mother and when they tested me to see if I had the gene, they could not find the mutation but said I may have it but it is just not detectable. The one advice I can give is to keep your children as healthy as possible, give vitamins, keep them from getting sick. Everytime my son has gone downhill was when he got sick....

To keep life as normal as possible? Well, our life is not normal at all, but I do try to spend a lot of time with my son, even though he is in bed. Both me and my husband will get into bed with him and read to him, sleep with him, cuddle him, sing to him. I really think he appreciates it, even though he can no longer communicate.

My son went through tons of testing to finally find a diagnosis "complex 1 respiratory chain". For us it was a revelation because no one had any idea what they were dealing with until then so as awful as the testing was, we are glad to have a diagnosis and therefore a deeper understanding of what hes dealing with. However I have two other kids, Luke 16 and Yasmin, 9 and Luke is about to undergo testing too. He is a lot more aware of the implications of the tests and their results. I feel for him, he's been through all this already with his brother and now Zanes Neurologist has her sights on Luke. I trust her but I'm scared. So I have been putting off the tests so he can finish his exams at school. Prolonging the inevitable ? or trying to hold on to "normality"?

We also have tried to quit doing so much testing. Ayear ago we had a suspected diagnosis and they wanted us to go 7 hrs away for a fresh muscle biopsy(we had frozen done)to confirm diagnosis. We figured our daughter was already being treated as she had the disorder and didnt want to put her through more. Unfortunatly she has had a lot of sudden progression so we had to do a lot of inpatient crap. Endoscope, GI studies, long term EEG's, CT scans, LP's, and MRI's. So being in the hospital there is no normalcy. She has been home about 2 weeks now and we are trying to get back to normal as much as possible. Unfortunatly we cant turn back time.

For anyone who doesn't know, Mito issues fall under the MDA. We took Abigail to her first MDA clinic visit and they instantly got her set up for a wheel chair. The MDA covered what our health coverage provider would not. In addition they were able to discover some frozen muscle tissue of Abigail's that was "over looked". They have since sent it for testing. :) If you are not aware, seek out the MDA clinic nearest to you. They are doing amazing things by way of support and research. They will even send someone to your child's school to make sure your child has the best school experience possible.

Happy New Year Everyone! :)

I must agree about the MDA,they are the ones who gave me the cocktail for mito.My dr.gave me drugs,which i do not take.Today will be my second visit to the MDA,you should all know that they really are the specialists,in these types of diseases.