The story of Jacquelyn
I was diagnosed with Limb girdle muscular dystrophy on October 20, 2000. I was a pretty normal child up until age 12. Kids started picking on me for the way I walked and that’s when my mom started taking me to the doctor. It took them 5 long years before we found the right doctor and got the diagnosis. I was a very active child, doing dance, playing softball, training for 5K runs, working and then it was all yanked out from underneath me.
I miss everyone of those things. I had a little trouble raising my arms up in the air and walking, but it didn’t get bad until I had my son. Then all the heavy lifting of car seats and always holding him as a baby, that’s the first time I ever heard my neurologist say it had gotten worse. It has always stayed the same till then. It was suppose to be a genetic disease, which no one in my family ever had/has until me. They thought maybe my parents had the gene that was dormant (which they both would have had to have to pass it on to me), but my mom didn’t have the gene, so they didn’t even test my dad.
I’m thankful I’m still walking and am not in a wheelchair. I walk a like a little penguin, and the inside joke is I have Trex arms cause I can’t raise them up but just a little bit, but it’s still such a frustrating disease to live with. Not being able to do the things you love, not being able to get your dishes outta the cabinet, and missing out ilon so many activities with my son, who’s now 10. I’d give anything to jump on the trampoline with him. But, just having my one child was a miracle in itself. They said my chances of passing it in to him were one in a million. So I’m incredibly thankful for that. So far he’s a tough little boy!
I pray everyday that they’ll find a cure for this horrible disease. And I worry everyday for what the future holds. I have no answers, besides knowing it’s LGMD. They’re clueless on the sub type, which means I don’t qualify for any of the gene therapy trials or stem cell trials. So for now, I literally live everyday like it’s my last. I have a power wheelchair, so I get to still do some of the long distance walking activities with my family. And can still walk the shorter distance ones. But again I pray everyday for that cure to come along.