Hayden's Hope

Saturday, April 23, 2016

10 Years Ago Today

In early, 2006, I heard the words through the telephone, “Megan, they have discovered the gene.” It was a phone call from the then president of the board for the IFOPA, Amanda Cali, telling me that the FOP lab had discovered that the ACVR1 gene is the cause of FOP.  I can’t tell you the emotions that ran through me.  I was so ecstatic; all I could do was cry. 

The lead researcher at the FOP Lab at U of Penn, Dr.Frederick Kaplan, had been in Germany for work. He received a call from Meiqui Xu who was part of the research team at U of Penn. Meiqui told Dr. Kaplan that she was certain she had found the gene that caused FOP. Cautiously the team began the process of double and triple checking their findings until they were certain that the ACVR1gene was in fact the one, which causes FOP.

ACVR1 Gene
On April 23, 2006, ten years ago today, Penn Medicine held a press conference to announce the findings.  I was honored to be able to be in Pennsylvania to share the joy and celebrate with Jeannie Peeper, the founder of the IFOPA, Dr. Kaplan and Dr. Shore, along with the researchers from the FOP Lab and of course many of the families from the FOP community.

In honor of that important announcement, April 23rd became International FOP Awareness Day.
Post Press Conference with other FOP Moms - from left to right
Hillary Weldon, Amanda Cali, Jennifer Snow and Jerry Licht.
After Hayden was diagnosed in 2002, I started researching about FOP and rare diseases. I learned words like “orphan drugs”, “mouse model”, “humanitarian exception”, “BNP Receptors”, “Noggin Gene”and “heterotopic” to name a few.   Of all the words that were new to me one word kept me going, “HOPE”.  

Of the 7,000 rare diseases listed in the NORD directory, only 4% have a cure or therapy. Today, the IFOPA is in drug trials with Clementia Pharmaceuticals with a drug that shows strong hope of bringing a therapy for our FOP Community.  Recently the Journal of Bone and Mineral Research published online a non-Clementia sponsored study describing palovarotene’s novel, beneficial effects on spontaneous heterotopic ossification, mobility, and skeletal growth in mouse models of fibrodysplasia ossificans progressiva.

So much has happened since Hayden’s diagnosis. It is truly amazing. What a journey it has been. Thank you all for your support.
#FeelingBlessed

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