Tuesday, October 21, 2014

Dysautonomia Awareness & Appointment Update

October is dysautonomia awareness month. I was diagnosed with dysautonomia last May. But, I know I've had it much longer. Probably since I was a teenager. I remember getting dizzy and nearly fainting. Having trouble standing, etc, etc... Back then no one knew what dysautonomia was. Sadly, still today, many people don't know what it is. Here's a definition of what dysautonomia is from the Dysautonomia  International website:

 Dysautonomia is an umbrella term used to describe several different medical conditions that cause a malfunction of the Autonomic Nervous System. The Autonomic Nervous System controls the "automatic" functions of the body that we do not consciously think about, such as heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye, kidney function, and temperature control. People living with various forms of dysautonomia have trouble regulating these systems, which can result in lightheadedness, fainting, unstable blood pressure, abnormal heart rates, malnutrition, and in severe cases, death. 

My symptoms include: dizziness, low blood pressure, blood pooling in lower extremities, rapid heart rate, exercise intolerance and nausea. Here are several links with information about dysautonomia:


Here is a video about dysautonomia: https://www.youtube.com/watch?feature=player_embedded&v=8UPMYNkm6Bc

I had my follow up appointment with Dr. Kendall last week. She said the mitochondrial DNA test came back normal. We haven't tested the nuclear DNA which can also show mitochondrial disease. We talked about what are next step should be. We both decided that it would be worth it for me to have the Whole Exome Sequencing done. We already know I have Myoadenylate Deaminase  Deficiency, which is a metobolic myopathy. And, we know I have EDS. We are hoping that maybe some connective tissue genes may show an abnormality. As of now, there are no genetic tests for my type of EDS. It would be great if I could maybe help others through this testing. I also have a genetic blood clotting disorder which should be confirmed from this testing, too. And, if there's anything else out there that is causing my symptoms, mitochondrial or not, there's a good chance it will show up. I believe Dr Kendall said the hit rate for the Whole Exome testing is up to 50%. Meaning something useful will be found in 50% of the time. Here's a link to the website of one of the companies that offers the testing which explains it better than I can: https://www.bcm.edu/research/medical-genetics-labs/test_detail.cfm?testcode=1500.

I'll talk a bit more about my appointment in my next post.

"Even if you have a terminal disease, you don't have to sit down and mope. Enjoy life and challenge the illness that you have."

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