Rare Disease Day 2021

Rare Disease Day 2021

It’s Rare Disease Day! Today, I’m wearing stripes to acknowledge those living with a rare disease.

A disease is a “disorder of structure or function in a human…especially one that produces specific signs or symptoms.”

Referring to achondroplasia as a “disease” is upsetting to some who celebrate their pride in the condition. Even for those who feel they have won the lottery with this diagnosis, achondroplasia IS life-threatening.

Living with the genetic mutation for achondroplasia – gene FGFR3 – will at some point cause a need for medical intervention. It may be surgery in infancy for cervical decompression and/or placement of a shunt, or the possibility of a tracheotomy in a young child, or surgery in the teens to middle age or later for spinal stenosis or limb alignment. The list of complications is extensive. Achondroplasia is not simply short stature.

Not all diseases can be cured, but many (like achondroplasia) CAN be treated. Complications from achondroplasia have been treated for decades. Now we are finally entering an era of being able to treat the gene for the first time. This is exciting because it means just a regular injection may be able to prevent complications and the need for high risk surgeries.

By observing Rare Disease Day, I’m not celebrating the disease itself. I’m spreading awareness about it.

Today, I celebrate the recent achievements of BioMarin, Pfizer, Ascendis Pharma, QED Therapeutics, and the other therapies coming up close behind. 🎉

Through The Chandler Project, I’m advocating for more funding for research & development targeted to the rare disease community AND promoting awareness of treatment options for those living with achondroplasia.

In honor of Rare Disease Day, Dr. Standard and I were interviewed on Fox Baltimore to discuss achondroplasia and treatment options available for patients.

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