Mitochondrial Disease

Hello everyone.

I'd love to find others who know more about this disease, or have experienced it. Mitochondrial Disease is the dysfunction of the Mitochondria in our body's cells. Mitochondria are the powerhouses of our cells (except red blood cells) and produce more than 90% of our body's energy, so when it isn't working you can only imagine how many issues can be effected by the mitochondria's dysfunction. Mitochondrial dysfunction usually effects people from birth, but at times can have teen and adult onset as well. When more than 90% of the body's energy isn't being produced many systems can be effected. This happens to be the case in many people in my family.

As far as I am aware, my grandfather was the first in our family to carry this. 3 out of 6 of his children were effected. Out of those 3, the only one who passed it down was my father. My father passed it to 2 out of his 5 children. The two of us (yep, one was me!) were the only ones who shared a mother. The others had 2 different mothers. Out of my sister and I, I had one child who has it, and my sister's child does not. Many publications will say that Mitochondrial Disease is only passed down through females, but my family seems to have debunked that theory.

I have met a few people who have children with this disease, but none that have had it travel down like ours has. I know there are cases, but I haven't met anyone yet, which makes it difficult to understand. Many doctors know of it, but don't know a lot. At least, in my case. The only person who has successfully been diagnosed in the family, is my sister. She had a positive biopsy that showed Mitochondrial Myopothy, which we already knew based on our symptoms and history but this diagnosis was big. I had a biopsy myself, but it showed nothing. It isn't uncommon for someone with Mitochondrial disease to have a negative biopsy, it just makes it harder. I am hoping that my Geneticist allows me another biopsy before he chooses to try one on my son.

I'll share some of our symptoms, hoping that someone can relate or even maybe it can help someone with some answers. Main symptoms found in my family would be: muscle fatigue and weakness, unable to stand still for more than 30 seconds, unable to walk long distances, tremors in extremities(especially with prolonged muscle use, ie; holding your hand in the air), many GI issues (stomach problems, IBS, Constipation, gall bladder), failure to thrive as an infant, migraines, Cyclic vomiting syndrome, inflammation, heat intolerance and the list goes on.

I hope that this helps someone, or even connects me with someone. If you have experience or want to chat about this, please feel free to email me @ [email protected].

Thanks for reading!