Have you ever woke up to find the life you’ve always known is no longer your own. That happened to me about two and a half years ago.
It was actually three years ago when I suddenly began having strange symptoms: migraines, confusion, lack of balance. In time, anxiety kicked in, and then tics and tremors. It was truly unnerving. I kept wondering, “What is wrong with me?”
Then the summer of 2015, out of the blue, a strange and frightening new symptom – ataxia. Ataxia is muscle weakness and lack of coordination. It typically sets in the legs and affects ones walking, but as I found out it can effect any muscle group in your body.
At first, I thought I was developing Parkinson’s, then maybe MS, but the symptoms didn’t quite fit. I was wrongly diagnosed with Episodic Ataxia, again the symptoms didn’t quite fit. MRI’s, CT’s, EEG’s, EKG’s, neurologist after neurologist, blood test after blood test… nothing conclusive, nothing that could explain what was wrong with me.
The young, vibrant, outgoing woman of 2014 was now older, frightened, disabled, and totally dependent on others for nearly everything. Most of the time I had to use a walker. On my good days I was on my cane. And on my bad days I was wheelchair bound. This went on for two years.
Then a new doctor, a PA, ran some blood work and sent some off for genetic testing and Bingo! an answer. MTHFR, compound heterozygous. Great! Now what is it?
MTHFR is a genetic mutation that can lead to a host of diseases and disorders. As I understand, there are basically three versions that effect genes 677 and 1298.
*heterozygous: which means there is one mutation on one gene, typically no problem
*homozygous: which means there are two mutations on one gene, more of a problem
*compound heterozygous: which means one mutation on each gene, a much bigger problem.
***for more information see:
Confused? So was I. And not one of the local doctors knew what I was talking about. Oh there was the one who initially found it, but she moved off to another state. So I was left to do my own research. And research I did. And you know what, so should you. No one understands your body like you do. Trust yourself to know what are and are not your symptoms. The doctors can only run tests, do research, and then do their best to make an educated guess. Well can’t you do that? Why not start now?