Patient of the Month- Cass S.
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Cass with her son who also has HPP.Â
I’m Cass, one of the Soft Bones Region Leads for the South Central Region. I was only diagnosed in 2020 while I was pregnant with my third baby. I had suffered from bone and nerve pain all of my adult years and most of my youth. I had terrible teeth and always had cavities growing up. They thought I wasn’t compliant and wasn’t brushing them properly. My teeth were just soft. My first broken bone happened when I was an infant—my collarbone. I was lucky until I was in my early 20s when I broke my foot while pregnant with my first child. I was running, and a couple of metatarsals snapped. I also started cracking molars around this time and had to have several crowns done in a year.Â
My second round in the boot happened in my 30s when I broke the middle joint of my big toe by dropping a bench on it. People thought I was accident-prone or clumsy. Some doctors even thought I was non-compliant with this injury. It wasn’t healing and took over a year and a half. After two fusion surgeries and a bone stimulator, it finally healed. As long as I could remember, I didn’t have the same stamina as others my age, and I was always tired (like reallllly tired). When I was 18, and after a couple of significant illnesses, I was diagnosed with chronic fatigue syndrome, but it just didn’t sit right with me. I wanted to do more. I was a college freshman taking a typical course load and working part-time. I couldn’t do it. I had to take time off from school and work until the doctors allowed me to go back.Â
Cass receives an award in a boot. Â
My second round in the boot happened in my 30s when I broke the middle joint of my big toe by dropping a bench on it. People thought I was accident-prone or clumsy. Some doctors even thought I was non-compliant with this injury. It wasn’t healing and took over a year and a half. After two fusion surgeries and a bone stimulator, it finally healed. As long as I could remember, I didn’t have the same stamina as others my age, and I was always tired (like reallllly tired). When I was 18, and after a couple of significant illnesses, I was diagnosed with chronic fatigue syndrome, but it just didn’t sit right with me. I wanted to do more. I was a college freshman taking a typical course load and working part-time. I couldn’t do it. I had to take time off from school and work until the doctors allowed me to go back.Â
Cass and her biological kids.Â
My back and shoulders were always tight, and any running caused crazy shin splints. I was seeing doctors about my neck and back as long as I could on my own—when I was 18. No one could give a definite answer as to why my muscles were tight. I had disc herniations without any traumatic injuries. I had MRIs, EMGs, and many rounds of chiropractic care and physical therapy, but nothing provided long-term relief. I saw a spine group for my back and neck pain and had joint injections, but I was told after a couple of years that there was nothing more that they could do for me.
I tried a chiropractor (again) who was a part of my PCP’s office. When my symptoms worsened, he told my PCP to run additional labs, as my symptoms didn’t make sense. After abnormal labs, they referred me to a rheumatologist, where they told me it was probably fibromyalgia. Again, this didn’t feel right. I asked about specific labs that were low (vitamin D and alkaline phosphatase). The nurse practitioner told me she had read about a rare condition in a journal a few years back. She thought I might have that condition, but probably not. She offered to run additional labs to rule it out. My B6 came back more than 10x the normal level. At that point, she referred me to genetics at a local academic research center, and it was confirmed. After my diagnosis, there were more exams. I had my two children tested. One was positive, and one was negative for HPP. A couple of months after being diagnosed, I gave birth and had that child tested. He was negative. I’m thankful that our variant is considered less severe than others have.Â
Cass and her husband right after being diagnosed.Â
In my daily life, I’ve adjusted expectations of what I can and can’t reasonably do without wearing myself out. I’m thankful for the ability to keep pushing for answers and having medical coverage that allowed me to begin Strensiq in September 2022. The biggest lesson learned is to always advocate for yourself and your family. After diagnosis, I scoured the internet and found Soft Bones. I had found my people. It was such a life-changing experience to attend the National Patient Meeting in 2023 and finally feel validation. It wasn’t just in my head. It was real.Â
Cass’s FamilyÂ
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