Rare Disease Day 2016

Action 4 Ashton > Rare Disease > Rare Disease Day 2016
Rare Disease Day 2016
Rare Disease Day 2016
i love someone rare!
i love someone rare!
hope. it's in my genes.
hope. it’s in my genes.

This post is in honor of Ashton and everyone else who has Duchenne/Becker Muscular Dystrophy. Rare Disease Day is the last day of February each year. This being Leap Day makes it even more rare. Mutations in the largest human gene, the dystrophin gene, result in either Becker or Duchenne muscular dystrophy. And this is the most common fatal genetic disorder diagnosed in childhood. Ashton’s mutation is c.2111delC, a very tiny frameshift deletion point mutation and he may very well be the only boy with this deletion.

After Ashton was diagnosed with Duchenne I later found out that I am a carrier. There is no known family history. I may never know if I was a spontaneous mutation or if my mom was also a carrier. Ashton and I have the same rare disease causing mutation in our genes but we also have hope. ‪#‎WRDD2016‬

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