Caregiver Corner – Kara S.

1. What is your relationship to HPP? My son Quinn was diagnosed with HPP 13 years ago at the age of 3 after exhibiting symptoms since infancy.

2. Tell us about you/those in your family that have HPP. We found out through genetic testing that Quinn inherited two mutations causative for HPP, one from each parent. My husband is asymptomatic. Now in my 50s, I’m developing some suspicious symptoms but have never had an HPP diagnosis. Our other son is asymptomatic. 

Quinn’s symptoms were numerous, from gross motor delay and mobility impairment to skull involvement to nephrocalcinosis. It was, weirdly, a relief to get a diagnosis and connect all the seemingly unrelated dots to hypophosphatasia. 

Quinn has never let HPP get him down. He is fulfilling his dream of playing team sports through adaptive sports (wheelchair basketball and wheelchair softball) and has discovered that he’s a talented athlete. He also does very well academically, and at 16 hopes to play wheelchair basketball in college and study animal science to one day become a zookeeper.

3. Who do you support? I’ve always been Quinn’s primary caregiver and his advocate, but as he gets older he’s taking on more responsibilities for his health care in anticipation of his future independence and responsibilities as an adult. But he knows I’ll always have his back.

4. What has been the most rewarding aspect of being a caregiver? Connecting to the HPP community and helping others adjust to life with HPP, as others helped us. It’s been wonderful to watch Quinn become more independent and transition into becoming his own advocate.

5. What has been your biggest challenge as a caregiver? I would like to have a better picture of Quinn’s future with HPP. Like with any rare condition, research is limited. HPP is so highly variable; some of Quinn’s symptoms have been pretty typical, some symptoms are way more severe than expected, and some symptoms that should be present are either very mild or simply not an issue. The uncertainty is stressful.

6. How do you practice self-care? What resources do you find helpful?
Soft Bones has been a wonderful resource since Quinn’s diagnosis. It’s been helpful to connect with a community familiar with HPP and understand of what living with HPP can be like.