Rare Disease - Hypophosphatasia
A few years ago, had you asked me this question I would have told you “no.”
Hypophosphatasia (HPP) (hypo-fahs-fuh-TAY-shuh) 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 the liver. Abnormalities in the gene that makes ALP lead to production of inactive ALP for people living with the disease, which can cause growth delay, frequent fractures and osteopenia -- where the bone mineral density is lower than normal. Normal mineralization is essential for hard and strong bones. Without it, bones and teeth become weak and soften, causing skeletal deformities, fractures, premature tooth loss and pain.
A few years ago, my colleague at the time, Deborah Sittig, shared with me her personal experience as a parent of a child with HPP. For me, as a new parent of a toddler myself, I couldn’t imagine what she was going through. It was hard enough managing and parenting a healthy child let alone one with a disease that affects the bones and may prevent a person from walking and living an active life.
When Deborah’s son was just four months old she knew something didn’t seem right.
A mother knows her child.
As a parent to an already healthy, older child, Deborah knew her son was not acting or doing things typical of a child his age. His development was slow. After several doctor’s visits, and many hours online, it wasn’t until Deborah's son was 18 months old that he was diagnosed with HPP.
Deborah was horrified as one of her searches left her breathless after reading the words, “Children diagnosed with HPP have a 50 percent chance of survival.” However, the sentence did continue to say that, “many go on to do quite well.”
The severity of HPP varies from patient to patient with the most extreme cases failing to form a skeleton in the womb and are stillborn to those mildly affected showing only low levels of ALP in the blood, yet never suffering any bony problems.
Deborah was not giving up.
I was stunned to learn that HPP is rare and that only 1 in 100,000 people are diagnosed with. There is also no cure or currently approved treatment. Existing therapies do no more than just manage the disease symptoms while also maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary.
Deborah, a former broadcast reporter, who now runs Green Room Communications (www.greenroompr.com), a public relations company she started with her confidante years ago, and who I am now in her employ, took matters into her own hands when she couldn’t find much information available online on HPP. She mentioned that there were few resources available online for parents in her situation, or for adults living with this disease.
As a result, she took action and began a quest to not only get answers for her child, but to become a champion for others living and battling HPP.
Deborah founded an organization called Soft Bones: The U.S. Hypophosphatasia Foundation (www.softbones.org) and has since established a community of people living with HPP, and parents caring for children with the disease. She has helped to create an outlet that provides valuable information, education and much-needed support for those in need.
The Soft Bones Foundation also promotes research through awareness and fund-raising efforts.
To help show support, let's take action and post this story and the mission of Soft Bones and HPP into our various social media channels and share it around to help spread the word for others seeking support and help with HPP. If you would like to do more, feel free to visit the Soft Bones website to make a donation to support the research for this important cause.
If even one person reads this post and finds value from it then I have done my part. I will continue to help spread awareness for HPP, and other diseases, as my voice is one of many who can help to elevate health care issues that need attention and support.
Want to join me in this quest to help others with HPP? While Deborah is my boss she is also my friend, and a fellow parent.