Suggest a topic in Medical sciences
I am trying to take a pulse as to a topic in medicine that some of you guys might be interested in. All I can promise is that it will be brilliant. Go ahead and send me suggestions and I will get to work.
I am trying to take a pulse as to a topic in medicine that some of you guys might be interested in. All I can promise is that it will be brilliant. Go ahead and send me suggestions and I will get to work.
Mitochondrial Diseases!
Funny that you ask for that. I am dealing with 2 patients with mitochondrial disease. Allow me to share one story. A young girl presents with chest pain. Cardiologist does a cath and busts her coronary. Emergency bypass is needed. She is very sick and am called to consult. I suspect autonomic dysfunction and opt to see her once we get her better enough. So she comes the office and we conduct testing confirming POTS. Then the search for the cause begins and goes on for months. We narrow this down to possible mitochondrial disease and send blood to Duke for genetic analysis. Nearly one year later we get confirmation of OPA 1 gene deletion. Treatment has been complex.
There are so many different types. So many symptoms and effected organs. We don't know the gene in my family causing yet because we can't get our insurance to cover the exome sequencing. Sister had positive biopsy for mitochondrial myopathy but that's as far as we have gotten. Grandfather, my dad, sister and I, and my son are affected. An aunt and uncle too. Treatment is very complex. Treat whatever symptoms there are and give a cocktail of meds for whatever deficiencies there are. I made my own post about it here too.
Can you google Dr Fran Kendall and visit virtual medical practice on Facebook. Just google the name. I am sure you will find more help than you can imagine.
Instead of me writing about an obscure issue, let me help you by directing you to the best person I know
That's very cool of you. I will look her up!