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Why Having a Lesser-Known Rare Disease Doesn't Make You Less Powerful

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Small is beautiful. Small can be powerful. Take our daughter for example. She’s small and skinny due to her muscle wasting condition, an incredibly rare form of congenital muscular dystrophy due to a mutation in the Lamin A/C gene (L-CMD). She’s beautiful, and boy is she powerful! Her determination knows no bounds. When she wants something, she will dig her heels in and not give in until she gets it (be it the pink bowl rather than the yellow one she’s been given her snack in, her socks with rabbits on them in the wash, or the toy she wants to take to bed which inevitably is nowhere to be found). Sometimes I try to negotiate with her, but with the grit and determination she shows, I often end up surrendering. Being out done by a 3-year-old can be frustrating, but I know how truly valuable a headstrong attitude is when you’re a minority fighting your corner, and for that I am grateful.

Although the L-CMD community doesn’t have the profile, research advancement and significant amounts of money being invested as some other diseases, being “small” has its advantages. Being small means we, the families of children diagnosed with L-CMD, have access to specialists at the coalface of research: the dedicated scientists working in labs investigating the LMNA gene and trying to identify a way to fix it, and the committed doctors coordinating research projects to learn more about the disease pattern in our kids. Being a small community means we were invited to take part in a brand new, groundbreaking heart study conducted by world-leading cardiologists and received an implant monitoring our kids’ hearts 24/7. Opportunities like this one are oftentimes less available to families affected by more “common” diseases.

When you are as close as this to the people making a difference, you feel tremendously empowered and realize there is hope. Your disease stops being a name with a life-sentence attached and becomes a cause to fight for. This can counteract the sense of unfairness and the “if only’s” threatening to bring your world down when you get a life-altering diagnosis.

That’s why we we’ve set up a family fund as part of Muscular Dystrophy UK — Georgie’s Genes. We know we can make a difference and we want to do all we can to realize this potential. We want to use our position as a small, but powerful community to shape how the disease progresses and help L-CMD get the funds and attention it requires to punch above its weight.

Follow this journey on Georgie’s Genes

The Mighty is asking the following: What is a part of your or a loved one’s disease, disability or mental illness that no one is aware of? Why is it time to start talking about it? Check out our Submit a Story page for more about our submission guidelines.

Originally published: July 14, 2016
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