Monday, October 30, 2017

HPP Awareness Week: Attention Needed for Rare Bone Disease

Hypophosphatasia (HPP) is a rare bone disease that affects children and adults and there is a great need for awareness, policy, research and treatment. Danielle Bither has three children were diagnosed with varying degrees of the disease.

National City, CA mom Danielle Bither is on a mission for much-needed awareness, education, research and treatment for a rare bone disease called Hypophosphatasia (HPP) -- pronounced high-poe-fos-fuh-TAY-shuh.

Today, October 30, 2017, is the start of HPP Awareness Week and I am sharing Danielle's story to encourage and inspire others to act against this terrible disease that requires some much attention and action.

HPP is a rare inherited bone disease that affects healthy development of bones and teeth, making bones softer and more likely to fracture. People who have HPP have trouble making an enzyme called alkaline phosphatase, or ALP. 

Without this important ALP enzyme, certain chemicals build-up and prevent calcium and phosphorus from binding together and depositing in the bones. As a result, bones can become soft, curved and fragile, and teeth may become loose or fall out prematurely. Severe forms of HPP occur in approximately one of every 100,000 live births. While exact numbers are unknown, the milder childhood and adult forms are probably more common, and one out of every 200 Americans may be a carrier for HPP.

The Bither family
Danielle's daughter Clara was diagnosed in December 2011 with infantile HPP. Her brother, Merle, when he was just two years old, was diagnosed with odontal HPP.  Their sister Stella was diagnosed with infantile HPP shortly after her birth in April 2013 and passed away in December 2013.

While Clara seemed like a happy healthy baby in the months following her birth, Danielle struggled to help her gain weight and at 6 months-old she weighed just 11 pounds — only 3 pounds heavier then when she was born even after switching from breast milk to formula at the insistence of her pediatrician. Then in June, her fontanelle began bulging. After meeting with several specialists, Clara's parents were told that she had craniosynostosis and would need surgery to fix the problem. After the surgery, the doctors said that Clara was facing another health issue and were not sure what it was but put her on a waiting list to be seen by a geneticist at a local Children’s Hospital. Shortly after medical insurance changed for Danielle and her family, they were devastated to have to leave all the doctors that were treating Clara, yet little did they know this move would save Clara’s life. 

There are no words to explain Danielle's grief and fear for HPP. However, she know the importance of arming oneself with information and resources, and support to help through the tough times. To give her children a fighting chance against HPP, she has shared her story to help raise the much-needed attention it deserves. 

Danielle was fortunate to find comfort and solace with other families who understood her new normal through a patient advocacy group started by another mom whose child also had HPP. The patient advocacy group is called Soft Bones: The Hypophosphatasia Foundation. It just so happens that one of my bosses, Deborah Fowler, is the founder. I shared about Deb's experience a while back on my blog. Here is her story that helped lead to greater awareness, new research and treatment for HPP.

Today Clara and Merle are bright and happy children who are thriving. 

HPP has a growing community of parents of children with the disease and adults diagnosed as well. You are not alone. Together, we have seen profound changes in policy, research and treatment. In fact, a first-ever treatment has since been approved. There is such a great need for more as patients with HPP all have varying degrees of severity.

Please join me during HPP Awareness Week kicking off next week to help elevate attention for this rare, brittle bone disease. I appreciate your support.

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