I eventually received a diagnosis of Hypophosphatasia (HPP) at 51 years of age. My whole life I’d been seeking answers for pains which seemed to be in my bones and joints. As a child I always struggled with physical education but was often encouraged to take part in activities which gave me more pain.

When you have an undiagnosed condition, you don’t tend to talk about it too much because there is no explanation. You don’t want to be noticed. You don’t want to stand out as being different, you just want to fit in. The same with activities, you just try and join in and then find yourself in severe pain for days.

After many years of pain and seeing so many specialists who diagnosed various problems but had no real answers, I decided to take matters into my own hands. I began collating all the evidence in a table format, writing down each blood test, X-ray finding and various diagnoses. I wrote a potted history from childhood and then went back to my GP. He picked up the baton and did some research and decided to refer me to a metabolic specialist. Within 12 months I had my diagnosis of Hypophosphatasia.