The Road to Discovery Part 4 of 4

20 Aug

I can’t even begin to tell you how difficult it was to make that phone call to my sister. I had been preparing myself for the diagnosis for 18 months or so at this point. Hearing that it was just muscular dystrophy and not ALS or something along those lines was actually a relief for me. But my phone call to my sister would basically be “Hey Samantha, the doctor said I have muscular dystrophy and he thinks you have it, too. He wants to see you next week when he runs a muscle test on me to see if we have the same thing. So, do you think you can make it?” Sure, I flowered it up and tried to make it sound nicer than that, but it really did break my heart to make that phone call–it was definitely one of the more difficult things that I’ve had to do in my life. She would not have had the mental preparation I had, and I figured all of this would hit her like a train.

Samantha was very gracious. She agreed to come to the appointment.

When we were called back the doctor talked with her for a little bit. He had her do all the physical activities I had to do on more or less a monthly basis since that first appointment in 2011. “Try to stand up out of the chair without using your arms for help.” “Try to bend down using only your legs.” “Now try to push up from the ground using only your legs.” Etc. Etc. Etc.

He then proceeded with the test on my muscles which consisted of inserting a needle into various areas my muscle tissue and sending little electrical shocks to measure the activity of the muscle. The doctor didn’t tell me much about the test, but I later learned that there is a certain type of activity that identifies muscular dystrophy. After the test, he confirmed the diagnosis. Limb-girdle muscular dystrophy. For both my sister and myself.

Basically, he told us that obviously this is something my sister and I were born with. He said it is autosomal recessive which means our children weren’t born with it, but they will be carriers. He said I really have the best case scenario possible with the illness. I am 33 years old and didn’t see any really significant complications for the first 30 years of my life. He said I should be decades away from major life changing complications like a wheelchair or breathing helps and such.

Robert and I were more than thrilled to have received the best news possible at that point, but it was bittersweet because I couldn’t help but hurt for my sweet sister who just got hit with a ton of bricks so to speak. I found myself wishing that I would have carried her through the 18 months of struggle that I had dealt with up until that point. Wishing there was some way I could have prepared her more for that day.

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