Patient of the Month- Frey H.
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My name is Frey. I’m a 30-year-old artist living with several rare diseases. I think there’s a misconception that if you have a rare disease you’ve known since you were a kid, and that doctors have been fascinated by solving your case. When in reality, it might be far from that for many people, myself among them. Though I showed symptoms all my life, I didn’t receive my first correct diagnosis until my mid-20s, and it was far from a simple process.
I was a small and sickly kid, and by the time I was my teen, I had chronic knee pain that brought me to the doctor’s office repeatedly. Plus, my right arm would episodically lock in place, painfully. I was given all the usual answers: it’s growing pains, eat better, exercise more, and have you tried vitamins? But as I got older, my health got worse instead of better. I was confused, frustrated, and I didn’t know what to do. It became overwhelming to the point that I eventually dropped out of college and moved back home.
I got a job and tried to get my life on track. I thought maybe by being away from the stress of school, I’d start to feel better. A bit over a year and two jobs later, I found myself so burnt out and unwell. I was hardly leaving my house, aching everywhere, and in a confused daze half the time. During this time, I began to connect with others online more, which led me to start learning about different rare diseases. That eventually motivated me to go back to the doctor’s office and try again.
Somewhere along the way, I took up fiber art. When my head was too foggy to paint or my body ached too much to move, it was something that I could do with my hands, which made me feel more productive and calmer. Sometimes I’d work on my projects in the waiting rooms, especially if I was particularly nervous about meeting a new doctor or just having something to do. It quickly became a skill I treasured a lot. Even after I started asking more specific questions about rare disease testing and received referrals to see specialists, the journey was still long. Finally, in my mid-20s, I was referred to a rheumatologist who happened to be familiar with hypophosphatasia (HPP).
During my first appointment, he was almost positive I had childhood-onset HPP, and so began an onslaught of learning things about myself. My bone density was extremely low, my joints were packed full of calcium, and it was in my soft tissues and skin, too. It began to answer a lot of questions, but also raised even more too. I connected with Soft Bones after finding out I had HPP. I was feeling so overwhelmed and confused at what to do next, and the resources and community were so helpful in navigating what next. The journey wasn’t over yet. I kept pushing my doctors to treat the issues they were diagnosing and to follow up on unanswered questions. The second rare disease diagnosis came quickly after the first. I was diagnosed with Ehlers-Danlos.
As it became easier for both me and my doctors to understand my body and what was happening within it, my chronic pain slowly became more manageable with medication and lifestyle adjustments. I started to feel less and less like everything was spiraling out of control. Then, during a round of genetic testing, a surprise genetic mutation popped up, which revealed that I had a 3rd rare disease. An autoimmune condition that may not have a name yet, but causes systemic problems similar to A20 haploinsufficiency or Behcet’s disease. Around this time, I connected with an immunologist who has an interest in rare diseases. His efforts to follow up on loose ends and address underlying conditions have made significant progress in my treatment. After working on getting my autoimmune problem addressed, he went on to learn about HPP to better manage my case and to hopefully be able to prescribe me Strensiq®. I was able to give him information about Soft Bones and how they support physicians interested in learning more about HPP and treating it.
In fact, that’s on the to-do list for when I see him next. It’s time to work on getting Strensiq® to treat my HPP. On bad flare-up days, it can be hard to feel like I’ve made progress. But reflecting on the past, I know I have made substantial progress. Now that I have more answers, I am at peace, and I’ve found so many lovely people who understand what it’s like to live with a rare disease. I’ve been able to heal enough to reopen my small business last year, selling hand-dyed yarns and small art goodies. I run a social media account where I share about what I’m creating and how I’m doing with my health conditions. I want to show people that while living with a rare disease (or a few!) might come with its own unique challenges, it can still be just as fulfilling and fun. ✨
Special Thank You!
During our 2025 Denim and Diamonds fundraiser event in May, attendees bid on Frey’s dyed yarn and framed note, helping raise vital funds for our organization. Thank you, Frey, for your generous donation, for sharing your story, and for sharing your incredible craft with our community!
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