My Painful Path to Diagnosis

Living with hypophosphatasia (HPP) can be painful and getting the correct diagnosis and treatment can take years.

Dear friends,

I have a story to tell you.

For the last 15 years I have lived with a friend called pain. My constant companion, pain has taught me to put on a “good face” and continue life as usual. There was always a reasonable explanation for the pain: a heavy volleyball practice, a tackle in a soccer game, bad luck with poor dentition. I brushed it aside and just kept going.

Then I had to stop playing sports. The pain became more noticeable, and now there was no practice to make my muscles sore, no tackle to make my knee hurt. No obvious reason for the pain. Time and again I woke up unable to bend my knee or move my arm because the pain was so bad. But still I pressed on and shoved it aside.

I started to feel fatigued and depressed. I just wanted to feel normal. My sixty-six-year-old mother had twice as much energy as I did. I told myself to ignore how I felt and keep moving. I took care of myself by eating right, exercising, resting, and icing, but I could see my condition deteriorating. I learned to just accept my good friend pain as part of my life, forever.

By this point in my life I had seen six primary care physicians, five neurologists, three sports medicine specialists, three orthopedic surgeons, two pain management specialists, three physical therapists, a rheumatologist, and an endocrinologist. I went through innumerable MRI’s, x-rays, and blood work, but all the results kept coming back normal. They told me it was just “loose joints” and that “it will get better with age.”

Then a test came back with abnormally low alkaline phosphatase. It was then that I got the call that would change my life forever. My endocrinologist confirmed a diagnosis of hypophosphatasia, also known as soft bones.

I couldn’t believe it was real. I was so happy to hear it wasn’t all in my head that I cried all the way home from work. Finally, my monster had a name. Then the reality began to set in: I have a rare disease that I will live with for the rest of my life. I did a lot of research and it took time to find the assistance I needed.

After all this, I needed to share my story. Be your own advocate, and be your child’s advocate. Never accept no for an answer, do your research, look online, read message boards, blogs, and research papers. And maybe, you won’t have to suffer as much as I have, or maybe, you can help someone else with hypophosphatasia.

Based on an actual HPP patient story.

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