Rare Disease Day – 2022

I have achondroplasia and am one of many living with this condition which is caused by a mutation in the FGFR3 gene.

On my platform, I represent myself. I choose how I identify my diagnosis, how I treat my diagnosis. And I choose what my diagnosis means to me and that’s a rare disease.

Most don’t agree with the way I view and treat achondroplasia, but many do. Now more than ever it’s so exciting to be in the middle of everything going on surrounding achondroplasia. For the first time ever on this rare disease day, there’s a treatment on the market in the US for those affected by achondroplasia with more treatments coming up in their own respective pipelines and as an individual living with the condition and who is a carrier of it, that’s truly so exciting.

To all of those who acknowledge their rare disease and advocate for research and treatments – happy Rare Disease Day!

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