A Patient Advocate Perspective on BIO

A Patient Advocate Perspective on BIO

As the mother of a 12-year-old son with hypophosphatasia, the BIO International Convention is much more than just another meeting. It’s about bringing hope to the hypophosphatasia patient community. As a non-profit, it is our chance to interface with world leading researchers and industry partners to fulfill a mission: to cure my son’s disease. As the founder of Soft Bones: The US Hypophosphatasia Foundation and a rare disease advocate, much of my job is to connect the dots – raising awareness, supporting accurate diagnoses, accessing care and treatment, all while propelling and fostering new and existing research efforts for this ultra rare metabolic bone disease.

What is fascinating about HPP is its spectrum of severity. Some babies are stillborn due to a lack of a mineralized skeleton, while some adults have slow healing foot fractures or pain and are misdiagnosed with fibromyalgia or osteoporosis. As such, diagnosis can be challenging. Measuring the amount of alkaline phosphatase in the blood, which is standard in a typical blood panel, is usually a first sign. Physicians also look at Vitamin B6 levels as another indicator. Genetic mutations can also provide insight. However, genetic mutations alone do not tell the full story and researchers have focused their research on understanding the genotype/phenotype relationship. The presentation of an individual patient along with all of the above markers inform an ultimate HPP diagnosis. A 3-D human rendering of HPP which showcases the hallmarks of the disease, including early tooth loss in children, skull and rib deformities, ricket like symptoms and more can be found on our website at www.SoftBones.org

Soft Bones is a small, but mighty organization. Our relationships run wide and deep and include collaborations with the NIH, NORD, Global Genes, the Rare Bone Disease Alliance, National Bone Health Alliance and more. We lobby on behalf of HPP and the rare bone disease communities in Washington, D.C. We advocate and participate in regulatory submissions to ensure HPP patients are heard and we partner with industry to help further our mission. We recently supported the launch of the first International HPP Patient Contact Registry to provide researchers with a way to gain insights from patients and carriers of HPP and to better inform their research.

One of the most promising areas for HPP patients is in stem cell research. In addition to funding a research grant on stem cell transplants, we are interested in learning how we can support and spark interest in HPP in this area. BIO allows for us to make these connections and makes our job of bridging the gaps easier and more effective in an organized and targeted way.

A world free of HPP – that’s our vision. And attending to BIO Convention is just one step closer to getting us there.

For more information on HPP and Soft Bones, visit www.SoftBones.org  or contact us at info@softbones.org.

 

Deborah Fowler, President and Founder, Soft Bones

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