Re: Virginia-about

[Guest guest]

Lori, it appears that 's Complex I is a mitochondrial based one and Emma's is a nuclear one. We think that because Emma's cousin has a Complex I and Complex III problem, and she is the child of my male cousin. So, it could not have passed maternally, as mitochondrial deletions, etc. pass.

Emma is on NADH, Co-Q10 (Ibedenone is the one we use); Carnitor, Polyvisol drops with iron and creatine.

She seems to be doing well, but I worry that she still can't walk and her breathing sounds labored to me a lot. She had some tracheomalacia earlier, when she was about 6 months old, and we thought it was immaturity of the airway; now that we know about her Complex I problem, we really don't know if it was related or not.

Emma can stand, walk while holding on to things, climb up stairs, say a few words, interact and play beautifully. She is quite tiny (but is now over the 3% category).

Is small for his age at this time?

We noticed Emma's problems at 4 months or so. She just did not start rolling over or trying to sit up for so long. It was about 8 to 9 months before she could even sit - with us propping her. She finally crawled a little just a couple of weeks before her first birthday. She has continued to make progress but it is slow. We do not care how slow it is if she just won't deteriorate.

We are monitoring all research, clinical trials, medical journals, and we are seeking input from the people who have published the most about the metabolic myopathies; however, as you know, so little is known about these disorders and their clinical course, no one can tell us anything for certain.

Our communication, as parents, is probably one of the best forms of knowing what to expect or what might happen. It certainly helps us with our general understanding of the problems and how they affect our children.

Thanks for sharing the information about . When I learn anything more about Complex I, I will let you know.

Have a great day everyone.

Virginia, Emma's Mom (15 months, Complex I)