Patient of the Month- Cassi K.
If you would like to donate to Soft Bones in honor of Cassi, please click the button below!
Hypophosphatasia Patient of the Month: My Journey with HPP
Hypophosphatasia (HPP) hit me like lightning. Oddly enough, I was excited. The more I learned about it, the more my lifelong medical mysteries began to make sense. My childhood was fairly typical until I turned nine. Then, out of nowhere, I started breaking bones—a story many of us with HPP can relate to. I seemed to have a new cast every holiday, and it became a running joke in my family: “Oh, Thanksgiving is around the corner. What will it be this time?”
My mom recognized early on that this wasn’t normal and took me to specialist after specialist. Their responses were always the same: “We can’t find anything wrong; she must just be a playful child.” Eventually, I was misdiagnosed with juvenile arthritis, which later became an “unknown stress-induced nervous system disorder.”
Years passed. Doctors stopped investigating, and my symptoms became a neglected issue in my medical chart. That changed when I stumbled upon HPP while reviewing my metabolic panel results. I noticed that every test flagged low alkaline phosphatase levels. A little online research led to an “Eureka!” moment: years of uncertainty evaporated as I realized what was wrong.
I dove into the available resources and found the HPP subreddit and the Soft Bones community. Their support and detailed guidance provided me with a roadmap to bring to my doctors.
The Importance of Self-Advocacy
Like many of us with complex medical conditions, I’ve learned the importance of self-advocacy. I’ve been with my current doctors for over five years, so I expected a baseline of trust. Yet when I mentioned HPP, I was met with skepticism. Each doctor seemed hesitant, repeating variations of: “That’s very rare.”
To find answers, I began specifically seeking out specialists familiar with HPP. I called ahead to verify their expertise, only to be disappointed when I arrived—many were unfamiliar or hesitant to diagnose me. It became a pattern: after reviewing my history and lab results, each would say, “We believe you have it, but we don’t want to be the one to diagnose you.”
Navigating the Challenges
I’m now waiting for my official genetic panel, but the delays feel like a motif in my medical journey. Like many of us, I’ve become my own medical assistant—spending hours on calls with doctors, labs, and insurance companies. It’s exhausting, and I’m sure many in our community can relate. Managing our treatment plans and medical teams feels like a second job. Being 32 years old and outwardly appearing healthy adds another layer of difficulty. I often hear: “You don’t look ill.” I’ve even received judgmental glances when using handicap parking on tougher days. I wish more people understood that disabilities can be dynamic; the level of struggle can vary daily.
Embracing Adaptation
If I could offer any advice, it would be to use every tool and advantage available. At first, it was hard to accept needing a walker for longer outings or a shower chair at my age. But the joy of still attending events with friends or starting the day with a warm shower outweighs the stigma. Life gets easier when we learn to adapt.
Finding Joy Amid Challenges
I’m incredibly grateful to the Soft Bones and HPP community for their unwavering support. The resources I’ve found here have made my journey smoother. While HPP comes with frustrations, it hasn’t stopped me from living a full life.
As a child, I dreamed of becoming a dancer, but constant broken bones dashed that dream. Instead, I turned to music—a skill I wasn’t naturally gifted in—and worked hard until I earned a vocal scholarship as a classically trained singer. I even performed at Carnegie Hall!
I spent a decade teaching English as a second language, including three years in Wuhan, China. I’ve run my own nonprofit and continue to check items off my bucket list—most recently swimming with manatees.
While my mobility has limitations, I’ve learned to adjust my aspirations and find new passions that align with my needs. Hypophosphatasia is challenging, but life has so much to offer.
To anyone navigating similar struggles, I encourage you to embrace tools, connect with our community, and cherish every stage of life. HPP may shape our journeys, but it doesn’t define them.
Responses