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Hi! My name is Peyton and I am 10 years old. I was diagnosed with juvenile onset hypophosphatasia (HPP) 9 months ago, in December of 2022. I had a very normal early childhood with no fractures or breaks until I turned 8, and that is where my story of HPP begins.
In November of 2021, I fractured my first bone (left Salter Harris II distal fibula fracture) when I fell down the stairs at school. I remember my ankle was blue and swollen like a softball by the time I got home to my mom. After a visit to an orthopedic doctor, I got my first cast. It was purple and the nurse who casted my ankle added glitter while it dried, so I sparkled! My ankle healed and my cast was removed several weeks later. Everything seemed ok until I reinjured the same ankle a few weeks later, just by stepping off my bed. This time, my ankle was in excruciating pain. I had my first MRI and it revealed a loose bony fragment, bone contusions, a bone cyst and a mild sprain. My ankle hurt so bad, even after the sprain healed. I ended up developing Complex Regional Pain Syndrome (CRPS) in my ankle. The sheets on my bed would brush my ankle and I would cry out in pain. It took several months of physical therapy for my ankle to fully heal.
A few weeks after my wrist healed, another injury. This time, it was my hip and it landed me in a wheelchair for 7 months. I was giving my little cousin a piggyback ride at Thanksgiving and I remember feeling pain in my left hip as I was walking around with my cousin on my back. She was 3 at the time and I was 9, this should have been a piece of cake! My hip hurt so bad the next day, I was having trouble walking. Another trip to the orthopedic doctor, another x-ray and another MRI revealed I had bone bruising all around my pelvis. The doctor explained to me that bone bruises are only seen from very high impact injuries, such as a car accident or a fall from a very tall ladder. This time, he was concerned that something else besides bad luck was going on. He ordered labs and my alkaline phosphatase level was three times too low; my B6 level was three times too high. He was certain I had a super rare bone disease called HPP and immediately referred me to a pediatric endocrinologist.
I was officially diagnosed just after Christmas with juvenile onset, autosomal dominant HPP. We found out it came from my dad, who is asymptomatic. Our endocrinologist gave us resources for an organization called Soft Bones and his office connected us to our case manager from Alexion, who would ensure we had proper training and funding to begin the only treatment for HPP, Strensiq, which is one of the most expensive medications in the world!
My mom and I scrolled the Soft Bones website and saw there was a Soft Bones National Patient Meeting happening in February in Phoenix, Arizona. We knew we had to go to this meeting to learn more about HPP and meet others living with the same rare diagnosis. We called it our “girls trip” and off we went! Soft Bones ensured we could come, regardless of cost to fly out to Arizona. I got to meet other kids living with HPP and made a new friend, Aubrey! We also met Dr. Smith who presented at the conference on infantile and childhood onset HPP. My mom and I decided that we needed to figure out a way to be one of Dr. Smith’s patients! She knew her stuff!
We waited about 3 months before insurance finally approved Strensiq. I took my first injection on March 6, 2023. The injections were very painful and I kicked and fought them the best I could! The pharmacist divided my dose into two separate injections, so I got 6 injections a week instead of 3 (ouch, but this ended up saving my skin from any side effects). We were pretty traumatized as a family and we didn’t see any real improvement or decrease in pain for many months. I was referred to a pain management specialist to help with the pain level I was feeling in my hip. He did not believe that I could be a level 8 on the pain scale. He even laughed when I told him how much it hurt. I left his office in tears.
At this point, my mom called Dr. Smith’s nurse at Phoenix Children’s Bone and Skeletal Dysplasia Clinic and explained the local doctors didn’t seem to understand this rare disease. She helped make us an appointment and we were able to fly out to Phoenix the summer of 2023. This trip was so fun! I had many scans and x-rays and Dr. Smith’s team set us up with referrals for physical therapy, occupational therapy and pain management specialists who had experience treating HPP. I was cleared to begin physical therapy and I became stronger and stronger! My pain levels started to really decrease around week 20 on Strensiq and I started walking more and more. With the help of my physical therapist, I went from wheelchair to running in about 3 months (thank you, Mrs. Katie).
I also started equine therapy with a beautiful horse named Ricky! I started riding Ricky bareback, and his movement while I rode stretched and strengthened my hips even more.
As of today, I have had 136 injections of Strensiq and I finally am feeling SO MUCH better! Did I mention I started giving my own injections this summer? I got tired of telling my dad to “slow down” when he injected me, so I took over! I think it hurts way less when I am the one pushing the plunger and can go as slow as I want.
I would like to tell others who have just been diagnosed that the injections do get better! I went from kicking and screaming to taking over and administering the injections myself in 5 months (and I am only 10)! Be sure and ask for numbing cream and go very slow. You’ve got this!!!