By Deborah Fowler, President & Founder of Soft Bones
Rare Disease Day is a critical awareness day for many patients and families who are battling diseases with unmet medical needs. The rare disease community is much larger than many would assume given that there are more than 7,000 rare diseases. As the President and Founder of Soft Bones, I have the privilege of advocating for patients with Hypophosphatasia (HPP), an inherited, genetic, metabolic disorder, which leads to low levels of the enzyme alkaline phosphatase, often affecting the development of bones and teeth.
Our organization helps provide valuable information, education and support for people living with HPP as well as their families and caregivers. This Rare Disease Day, we’re hosting a webinar to discuss the promises and challenges related to HPP and gene therapies. We hope you will join us!
Gene therapy provides hope to many families, especially those battling HPP. There are numerous complexities to managing this disease. For example, the average patient sees between five and eight specialists. Together, they create a multidisciplinary care team. The necessary appointments and frequent follow ups place a huge burden on the patients and can incur substantial medical expenses for the patient, their family, and the healthcare system.
The HPP community is in the very early stages of developing gene therapies that will change the trajectory of the disease. Yet we are already contemplating how to address the challenges patients will likely face accessing these treatments. We’ve found that a lack of understanding of HPP can lead insurers to set criteria for access that, in many cases, aren't appropriate and have led to patients being denied currently available treatments.
This is why Soft Bones is focused today and every day on educating policymakers about the challenges HPP patients and families face – and the hope gene therapy provides us. Our goal is to remove these potential barriers so that they don’t prevent patients from obtaining life-changing therapies in the future.
Our work as a member of the IGT Patient Advocacy Advisory Council, provides us the opportunity to collaborate with other patient-focused organizations who face similar challenges, learn from their experiences, share best practices, and elevate our collective voice to advocate for positive policy changes – ones that put patients’ well-being at the center of the equation.
Learn more about Soft Bones here.
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