Advocates for people with rare diseases such as hypophosphatasia (HPP) are changing the world. Moms and dads, aunts and uncles, brothers, sisters, cousins, spouses and friends play a tremendous role in pushing new and innovative treatments forward. Not only that, but they generate awareness and spread understanding of medical conditions that most people (even doctors) have never heard of. Because they love someone with a rare disease, they set aside time (and often substantial funds) to champion a condition and create real change for people living with it. Deborah Fowler is a great example.
Fowler’s son was born with hypophosphatasia, an inherited metabolic bone disease (also called “soft bone disease”).To learn more about this rare disease, click here.
A recent story published by the Tap Into Morristown reported that the New Jersey mom started a vibrant support network after searching in vain for resources. From her passion to help her son and others with HPP led to Soft Bones: The U.S. Hypophosphatasia Foundation . Today it fills the previously unmet need for information, education, and support for people living with HPP and their families.
Fowler’s research revealed that she was a carrier of the condition. She now advocates for genetic testing and awareness so that other moms- and dads-to-be can be informed. She didn’t stop with enlightening doctors and policymakers in the US. Fowler’s advocacy is inspiring the world. Creating community for those living with this rare disease is a big part of Fowler’s mission. To date, chapters of the Soft Bones foundation have been started in the UK, Australia, Canada, and Poland.
Fowler’s son is now in seventh grade and on an enzyme replacement therapy that was approved just two years ago. No doubt, the treatment was made available at least in part by the efforts of Fowler and other advocates for HPP like her.