I can't believe it's been two months since I've updated my blog (how many times have I said that?) Honestly, I need to try harder. But, in my defense, we have had so, so much stuff going on around here. We got and accepted an offer on our house in May. We found a beautiful home and should be able to move in in early July. These past few weeks have really taken a toll on me. I'm just not at all where I want to be health wise. It's frustrating because I have so little control over most of it. It is what it is.
The biggest news is that last week I made a pretty important discovery regarding my health. I was sifting through my 23andme data (genetic testing) and discovered that I have a gene mutation that causes a form of metabolic myopathy. Some people can have this mutation and have very few problems, others (like me) can be affected more severely. Once I figured it out, I called my PCP and spoke with him about it, then emailed him the results. Once he looks them over, I should be able to get in to see him and hopefully talk about treatment. I'm also considering calling my EDS doctor to see if she'll make a referral to the newly formed Mitochondrial disease clinic at Cincinnati Children's Hospital (where she's located.) From what I've read, this mutation sometimes occurs along with another type of myopathy mutation which can account for the severity of symptoms in some people.
Besides moving this summer, in early August, we will be headed to New Hampshire (a twenty hour drive!) to take our son and his girlfriend to grad school. He'll be working on his Phd there for the next five years! It's exciting and scary! I'm hoping I do okay with the traveling. Luckily, I have a husband who realizes how important it is for me to stop and get out and move around every so often. I'm hoping we will be able to go to New York and sight see a bit. We had to cancel our June trip because Tim had a conflict with his work schedule.
Here's a link for 23andme. https://www.23andme.com/ I really think it's worth it to send in a sample and find out more about your genetic makeup. Besides health information, you will be connected with cousins you never knew you had.
I'll keep this short and sweet and end here.