On Tuesday, October 30, friends, colleagues and strangers gathered together to peddle their way to support the rare disease organization Soft Bones, Inc., whose mission is to provide valuable information, education and support for people living with a rare bone disease called hypophosphatasia (HPP), their families and caregivers. The Foundation promotes research of this rare bone disease through awareness and fundraising efforts.
Revolution Indoor Cycling Studio in Montville opened its doors to the cause with 20 miles spun by each participant to support Soft Bones. Many involved were employees from Green Room Communications, a Parsippany-based public and media relations firm run by co-owners Deborah Fowler of Morristown and Karen Carolonza of Mountain Lakes.
Fowler is also a mom and patient advocate for HPP as her son Cannon, now 13, who was born with the disease but was not diagnosed until he was a toddler. At just four months of age, Fowler noticed her son’s inability to sit independently or be able to bear weight on his legs. After scouring the Internet and doing much research with lots of
questions for the doctors, Cannon was later diagnosed at age 18 months with HPP, a disease unfamiliar to many and one that had no approved treatments. HPP is not known by many. It is 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. Only 1 in 100,000 people are carriers of the gene that will manifest in the most severe form of HPP.
With no formal websites with information on the condition or online communities to commiserate with, Fowler was alone. She did not know of anyone else going through what
would become her new normal. There was little information online or places where loved ones could donate for much-needed research and support for the disease.
As a result, Fowler’s new beginning began with the development of Soft Bones: The U.S. Hypophosphatasia Foundation, which became the place to provide valuable information, education, updates on public policy and support for people living with HPP, and their lovedones.
Fowler has achieved great strides in her tireless quest for education, research and support for patients and their families coping with HPP. Her efforts to date have included visits to Capitol Hill, sharing her story at medical meetings, meeting people around the world impacted by HPP and engaging with and encouraging researchers to conduct clinical trials and innovate for this disease. As a result, a first treatment has since been approved for the disease. Fowler, who chronicles her experience with her son online at Cannon’s Adventure, continues to make an impact on the lives of people with rare diseases including HPP and encourages others to share their stories to join in the fight.
If you would like to learn more about Soft Bones and to donate, please visit www.softbones.org.
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