- CASE FILE
A very rare genetic disorder depleting Mitochondrial DNA is taking my life away. I can’t get better on my own. Can you help me, please?!?
ABOUT THIS CASE FILE
Blindness runs in my mothers family, and I was diagnosed with optic nerve atrophy when I was in Kindergarten. In seeing a Neuro-ophthalmologist, it was recommended having genetic testing to learn the cause. Testing did not reveal any of the expected conditions but did find Mitochondrial Depletion Syndrome. Most of my life I’ve been relatively healthy and active and energetic, but I did experience issues with TMJ, PCOS, infertility, hypertension,, heartburn, sleep hypopnea and sleep apnea. Due to obesity, arthritis and risk for long term health issues, I had RNY Gastric Bypass Surgery in 2007. Afterwards I became iron anemic, vitamin/mineral deficient, Hypoglycemic, developed Hypothyroidism, and began experiencing greater fatigue and headaches. In graduate school 2012-2013, I noticed how worn down my body was becoming with daily pain, headaches, insomnia, fatigue and increased anxiety and depression. In 2014 I began looking at causes and was diagnosed with Fibromyalgia, chronic pain, and Rheumatoid Arthritis. In addition, I seem to be unable to fight off illness and have been dealing with ear and sinus infections or laryngitis for most of this year and early last year. I am working to try to balance all of these conditions and their medications while still feeling like I don’t have all of the answers. I feel like Mitochondrial Depletion could be playing a greater role in my overall health challenges and vision loss, and I know that there are a number of diseases That are under the umbrella of MDS. In the end, I rarely feel well enough to do much of anything and am often stuck at home in too much pain or too tired to do anything. I would love to try and get some of my life back and be the woman, mom and wife that I want to be. I’m sure that I’ve forgotten a lot but hope this will get me started in the right direction.