The story of Richard
I’ve found it difficult to stand up for over 20 years now, the worst part is getting out of bed after a busy day. When I was younger, I found myself regularly spraining my ankles, which didn’t help – my university years were affected as I wouldn’t manage to walk very far and nobody knew why.
Over many years and following many blood tests, it became clear that I had very low calcium and vitamin D levels so various endocrine specialists began the battle with my body to regulate my calcium levels. At one point, I had a blood calcium level of 1.6 which prompted the hospital to call me to A&E as their protocol says that this is way too dangerously low. Then I had several hours of arguing that they should not put me on a calcium drip because my body was used to running on low levels and the drip would shock me too much. I boosted my calcitriol tablets and had a retest a few days later, my level increased and they were therefore happy to continue to let me self-medicate. At this point, I realised this condition is rare and that hardly anyone has actually dealt with it over the years….
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Fast forward to 2018 when I moved home and changed hospitals. My new endocrinologist seemed to know what he was talking about, and he referred me to genetic testing and to find out why I have this problem. Amazingly, I do, the test came back with confirmation that I have the genetic abnormality consistent with having inherited pseudohypoparathyroidism 1b. Finally I had something that made everything make sense. All my blood results show a textbook case of this, why it took almost 20 years is anyone’s guess. My next challenge is to find a way to stop being in constant pain, my feet and knees are always causing trouble, I can barely pick something up from the floor… I just want to be less symptomatic… Maybe one day?