October 30, 2021 will be recognized as World Hypophosphatasia Day, a time dedicated to spreading awareness among the medical field and the general public about hypophosphatasia, a rare and potentially lethal metabolic bone disease. Like many other rare illnesses, patients with the illness can sometimes have a difficult time getting diagnosed, leading to potentially severe consequences due to delays or lack of treatment.
About Hypophosphatasia (HPP)
Hypophosphatasia is a rare and potentially lethal disorder that affects bone metabolism. The timing of symptoms can range widely, with some patients dying before they are even born, whereas others don’t deal with symptoms until much later in life. The disease is linked to mutational defects of the TNSALP gene which codes for tissue non-specific alkaline phosphatase. When levels of TNSALP are low, bones do not form normally. Symptoms in younger patients include limb deformities, respiratory failure, soft bones, rickets, dental defects, delayed development, and muscle weakness. Symptoms in adult patients typically manifest as cartilage degeneration, loss of teeth, and arthritis. Treatment includes the drug asfotase alfa; other treatment is mostly symptomatic and may include surgical intervention to correct deformities and dental care to compensate for tooth loss. To learn more about hypophosphatasia, click here.
The patient advocacy group Soft Bones has been organizing around World HPP Day and has several ways that you can get involved:
- Be heard on social media. Soft Bones has several images freely available for use that can take the place of a profile or cover photo on Facebook, Twitter, or Instagram.
- Reach out to local media. Check out this resource guide that will show you how to contact local media organizations and spread awareness.
- HPP photo challenge: What do others not see that you want them to know about hypophosphatasia? Send up to five photos via email based on the following prompt:
“As a person living with HPP or as someone who cares for a person with HPP, what is the emotion, challenge or inspiration that you want to make visible?”
Don’t forget to think of creative captions for each photo. You can email your photos and captions to email@example.com. You can also post your photos on social media and tag @softboneshpp.
For resources and learning more about the event, click here.