Nerve degeneration?

Today was very challenging for me!

I'm struggling with what little information I have on our family's genetic disease as well as what little information I have about my own health problems. It's amazing how not knowing about these problems has really gotten me afraid.

I wrote my last post in a hurry and without much thought. I was stressing about what could be, and Andrew reassured me not to freak out because retinas deal with nerves and not muscles.

I went to work feeling more assured, until, out of nowhere, I suddenly recalled my mom once telling me that Aunt Jackie and Uncle Matt had a neurological disease. My fears piqued again.

Before leaving for work, I had called my mom just to tell her I was a bit freaked out over something the eye doctor said. She called me at work, and she knew exactly what I was freaked out about.

I told her what I'm about to write here.

At the eye doctor, I had to fill out a new patient history form. It had a lot of health issues to go through and circle. I had to circle any health concerns that were in my family, so I circled "cataracts," "high blood pressure," "diabetes," and "cancer." I saw muscle degeneration on there, and I thought of Aunt Jackie and Uncle Matt, so I circled that, too.

In the exam room, my eye doctor went over all my circled family problems with me. "Who had cataracts?" My mom's mom. "Who had high blood pressure?" Both of my grandmas. Etc., etc. At muscle degeneration, I didn't have much to say because I didn't know a lot. I told her I had an aunt and an uncle who had a rare, genetic condition of which I didn't know the name. I told her it affected the muscles of their eyes, and that they had to have muscles from the leg put into their eye lids. That's pretty much all I knew. It didn't seem like a big deal at the time.

She did all the basic exams on me. She checked the pressure of my eyes, she dilated them, looked inside. All that good stuff. When she was all done, she made a comment that was Innocent enough, but it completely has me freaked out. She said, "It's interesting your family has a history of muscle degeneration because that's what I'm seeing in your retinas. You have some thinning around the edges. Don't worry too much about it, though. It's just something for me to keep an eye on. Your actual risk of retina detachment is very low."

My mom definitely felt my concern. She'd confided in me before that there are times she really examines her eyes in the mirror to see if her eye lids are droopy. On a few occasions, I've done the same thing!

I then worked up the courage to ask her if Aunt Jackie and Uncle Matt had muscle degeneration or nerve degeneration. She said, "It's in the nerves." That hit me so hard. I broke down crying immediately. Thankfully, my boss let me go home.

I went out with my mom and dad earlier this evening for dinner and got to talk and hear more about it. I told them my eye doctor really didn't seem that worried about the retinal thinning, and that I'd read online it's a fairly common issue (approximately 8% of people experience it). However, it definitely involved the nerves, and any issues with eyes and nerves is unnerving with the family history.

She explained to me that they're still not exactly sure what the family suffers from. She said Aunt Jackie was diagnosed with Mitochondrial Myopathy, while Uncle Matt was diagnosed with Kearns-Sayre, which is a type of Mitochondrial Myopathy.

I got home and tried to read a bit about both. There's actually not much information on either, although there are some resources online for people diagnosed with rare disorders!

Kearns-Sayre was the most unnerving for me to read about because it did list retinal degeneration as a symptom. As freaky as that was, it also said it almost always appears in people before the age of 20, which is definitely consistent with my Aunt Jackie and Uncle Matt. That's a bit comforting for me (I'm 25). It had a lot of specifics on the eyes, which is definitely a problem for them both, but little information on the skeletal muscles. The degeneration they've both experienced has effected their use of their muscles to varying degrees (I know my aunt Jackie has told me she can't really feel the ground with her feet, including when she's stepping down or on cracks and such).

I couldn't find much about mitochondrial myopathy, and what I did read was more general. Basically, when your mitochondrias are messed up, you can have a lot of ugly and diverse side effects.

I'm not sure what to think. I know I'm freaked out. I know there's not much I can do, whether I have the disease or not. It's just scary to think of having to deal with a degenerative disease.

My grandma started showing signs of muscle weakness around the eyes around the age of 80. My mom told me she was given an eye lift for medial reasons because her dropping eye lids made it so much of her vision was blocked. If it was really the same thing as what her kids have, does that mean it's not Kearns-Sayre? She obviously had her onset much later than the age of 20. Or, if it was, does that mean there can be slow onsets to the disease? There's just not that information available.

My next move is to go back to the eye doctor and ask more about it. I need to find out if it's consistent with a nerve degeneration disease. If it possibly can be, my next step is to go to my general doctor and find out if there can be genetic testing done, and, if so, can I be referred to someone who can test me.

Hopefully, it's nothing. Hopefully, I'm just one of the 8% of the general population who deals with retinal thinning. Still, I can't help worrying over the possibilities...