RARE, BUT STRONG TOGETHER
The US Hypophosphatasia Foundation Joins Groups Around the World to Raise Awareness About Rare Diseases
Soft Bones: The US Hypophosphatasia Foundation, an organization dedicated to educating, empowering and connecting patients and families who suffer from a rare bone disease that causes soft bones called hypophosphatasia, or HPP, is advocating for Rare Disease Day 2012.
Rare Disease Day is especially poignant this year because it is set on Leap Day, February 29th. This annual awareness-raising campaign is recognized by thousands of patient organizations around the globe with various events. This is the fifth international Rare Disease Day, which was established by EURORDIS, an alliance of patient organizations in Europe.
In recognition of Rare Disease Day, Soft Bones is working to drive awareness of HPP and advocate on behalf of HPP patients. HPP is an inherited rare condition that affects healthy development of bones and teeth, making bones softer and more likely to fracture. Severe forms of HPP occur in approximately one per 100,000 live births, and an estimated one in 200 Americans may be a carrier for the disease.
"It is hard enough learning that your child has been diagnosed with a rare disease, but couple that with a rare disease where there is little information, no formal patient support group, little to no research, and many times no treatment options – it is a sobering experience," said Deborah Sittig, who founded Soft Bones in 2009 in honor of her son, who has HPP. "Every day, we work as advocates for HPP patients to help give a 'voice' to hypophosphatasia. This year’s theme is ‘Solidarity’ and today we proudly join others with rare diseases around the world to talk about the importance of recognizing rare diseases."
In the United States, more than 600 patient organizations, government agencies, educational institutions, clinical centers and companies are partnering with the National Organization for Rare Disorders (NORD) for Rare Disease Day. Events include a symposium hosted by the National Institutes of Health on Feb. 29 and a Patient Advocacy Day sponsored by the Food and Drug Administration on March 1.
Diseases are deemed rare when they affect less than 200,000 Americans at any given time. Currently between 6,000 to 8,000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from each individual patient. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. NORD works on behalf of the 30 million Americans who live with one or more of the 7,000 rare diseases.
“Like other rare diseases, hypophosphatasia has a range of severity and symptoms that can make diagnosis difficult,” says Sittig. “A fetus may not make it to birth due to a lack of a mineralized skeleton, or an adult can be misdiagnosed as having osteoporosis. Typical osteoporosis drugs can be harmful to someone with HPP so an accurate diagnosis is critical to ensuring appropriate care and treatment.”
About Rare Disease Day: Rare Disease Day is an annual, awareness-raising event coordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level. Rare Disease Day celebrates the solidarity of patients and families affected by rare diseases, as well as of those seeking to improve their lives, around the world.
About Soft Bones Foundation: Soft Bones Foundation was formed in 2009 to provide information and a community to educate, empower and connect patients living with hypophosphatasia (HPP), their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.