Deborah Sittig: Being a Parent to a Patient with Hypophosphatasia and Becoming an Advocate

My son Cannon was just 4 months old when I started to notice something was a little bit off about him. 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 a 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.”

Hypophosphatasia is not known by many. It’s an inherited metabolic bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP), which is normally present in large amounts in bone and liver. Abnormalities in the gene that makes ALP lead to production of inactive ALP for people living with HPP.

I needed information. I needed support. I needed to know what to do next.

Here I was– a parent of a child with a disease that 1 in 100,000 get, and a rare disease where there was no cure or approved treatments available.

Further, it was shocking to learn that there were no formal websites with information on the condition. There was no place we could send friends and family to who wanted to make a donation or to learn more about the disease. There was no online community of others who were going through what I was going through to provide information and comfort.

As a result, my new beginning began with the development of Soft Bones: The U.S. Hypophosphatasia Foundation, which became the place to provide much-needed valuable information, education, updates on public policy and support for people living with HPP, and their families and caregivers. The Foundation also promotes research of this rare bone disease through awareness and fund-raising efforts.

My quest continues to help the HPP community including patients and caregivers, and their loved ones. I 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 help to support this important cause as well.