In February I went to see Dr. Cohen in Ohio about the possibility of a Mitochondrial Disease. I really liked Dr. Cohen. He was very kind, very knowledgeable, and very thorough. He spent about an hour with us simply getting a detailed medical history, after which he ordered numerous tests. I had 14 tubes of blood drawn – they are checking everything! He also had me stay at the clinic for a few more hours so that they could do a skin biopsy (Fortunately, I didn't need the muscle biopsy that I had previously been told would be necessary). They are now cloning my skin so that they can grow more as they need it over the next few months and years to do further testing.
In all of these different tests, one of the things Dr. Cohen is looking for is a genetic mutation in the mitochondrial DNA. There are over 40 known mutations. He said I might have one of those, or that they may find a new mutation. He is also looking for anything that may be missing in the metabolic pathways to the mitochondria, such as a specific vital enzyme or chemical.
I asked Dr. Cohen if he thinks that I have a mitochondrial disease. He said, “Yes, definitely.” He said that the task before us now is to find out which one. Depending on which specific mitochondrial disease I have, there may be a treatment option. However, treatments to reverse or stop the progression of mitochondrial diseases are very rare. Dr. Cohen also said that we may find out what is wrong, but not be able to do anything about it, and that my health may continue to degenerate. We’ll just have to wait and see.
I'm glad to be getting some more answers, even if they aren't the answers I'd like to hear. As my health problems have continued to progress in severity over the years, with little response to treatment, it has become apparent that I have much more than POTS going on. Dr. Cohen is the third doctor now to admit that, yes, I have something degenerative. Hopefully we can find out what. That would be helpful in and of itself. I would just like to know what is going on and what I'm facing, even if the news is very bad.
That’s what I know for right now. It will be a couple more weeks, at least, before we hear anything back about the tests. I will post another update when I have more information.
While travelling to the doctor last month, I was able to stop along the way to visit a good dysautonomia friend, Lisa. We had a wonderful time visiting together. She has truly been a blessing in my life.