My son was just 4 months old when I started to notice something was a little bit off. His wrists looked wide. He did not bear weight on his legs. He was not a strong sitter. My pediatrician blamed it on low muscle tone and said this one “won’t be our athlete.” But I could not let it go. What was causing the low muscle tone? Why did his wrists look like that?
That is when the obsessive research began. I frantically scoured patient forums, read every possible website, emailed and chatted with patients, and conducted endless Google searches into all hours of the night.
At 18 months old, we finally had our diagnosis: hypophosphatasia (HPP). That was the one web search with results that left me breathless. “Children diagnosed with HPP have a 50 percent chance of survival. Many go on to do quite well.”
It was that single phrase that led us to start Soft Bones: The U.S. Hypophosphatasia Foundation. It was shocking to learn that there was no formal website with information on the condition. No place we could send friends and family who wanted to make a donation or learn more about HPP.
My name is Deborah Sittig, and I founded Soft Bones after my son was diagnosed with HPP in 2009. Our mission is to provide valuable information, education and support for people living with HPP, their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.
Patients and caregivers, we hope you will join our forum to ask questions and let us know how we can help support you in managing this disease.
And for those of you who know someone with HPP, we hope you will consider making a donation.
Thank you for visiting our website.