A Kushy Weekend

For my Grandma Jo's memorial weekend, we had aunts, uncles, cousins, and so many others here in town. Aunt Gerry and Wayne flew in from Maine, Tina and Aunt Linda flew in from Boston, Uncle Mark came from Ohio, Uncle Matt came from Missouri, Julie came from Nebraska, Aunt Jackie came from California, Jana and Ian (who I met for the first time) came from Portland, and Aunt Carol, Uncle Mike, Missy, Mia, Glen, Jo and Jack all drove in from Iowa.

Tina stayed at my apartment. I was so stoked to have my first house guest! Andrew and I totally bleached the shower and toilets and vacuumed and had fun grocery shopping. I'm telling you, we're ready to be a regular bed & breakfast now. Tina was the best house guest, ever (and I'm not just saying that because she's my only house guest). She totally let me give her a tour and just generally showed an interest in everything, right down to the bagels. Hurray for her! Next time, I'll make her try Rock Band. Also next time, we won't be so exhausted from socializing so we can go for runs!

Having Julie in town was a hoot, too. I spent a lot of my time with her and Tina, just generally laughing it up and throwing our opinions out about everyone and every thing. Good times.

Uncle Mark and I talked a lot about the Disney World Half Marathon we're running in January. Turns out, in addition to us and my mom, his daughters Dina and Amber are planning on running in it. This'll be too much fun!

Andrew enjoyed meeting people and demonstrating his magic skills. At some point, he even had Jana and Ian practicing the disappearing coin trick. Too cute.

The most difficult part of the weekend was, of course, the memorial itself. We went up to Andrew's parents' land near Fairplay and sang and talked of our memories. I started to get upset about scattering Grandma's ashes. Not that I thought it was a bad idea; I knew it's what she'd wanted. It just is hard to say goodbye, I guess. I felt angry about not having her with us, and I hated thinking about everything she doesn't get to see. I know I'll move past those feelings and be able to enjoy her memories, but it's just so hard sometimes, and I feel so mad that I don't get to have her around anymore. I wish I could say more, but I'm so emotionally drained! It was a toughie, for sure.

And now... now things have quieted down. Some family is leaving already tomorrow morning. This means I'll sleep in, wake up slowly, and then reach out and connect with those that are still hanging out in town. I'm wiped, and I think it's time to cuddle up with a book and then head to sleep.

Goodnight!

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...