Patient of the Month- Ray T.

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If you were to see me eating lunch in the breakroom, working at my desk, or walking out of the building with a coworker, you would never know that I have a progressive degenerative disorder that could eventually lead me to become disabled. 

My disease is called hypophosphatasia, or HPP. HPP is an inherited, progressive and life-threatening genetic disorder that disrupts the process in which minerals such as calcium and phosphorus are deposited in developing bones. A process that is crucial in making bones strong and rigid. In the case of teeth, being able to withstand chewing and grinding. HPP (or a variation of it), can begin at birth, in childhood, or later as an adult. It tends to be the most severe and sometimes fatal in infancy. 

Symptoms include but aren’t limited to, seizures, renal and respiratory complications, abnormal tooth development, premature tooth loss, recurring bone breaks and fractures, neuropathy, and increased risk of chronic joint pain and inflammation. It can be treated with an enzyme replacement medication, but this medication is quite literally one of the costliest in the world.

Though I wasn’t diagnosed until later in life, I have always been affected by HPP. As a child I was often sick or feeling exhausted. I had poor eye-hand coordination and a bit of difficulty walking in a straight line. I assumed it was “all in my head”. I tried to ignore it and marked it up to personal shortcomings, a character flaw. Don’t be lazy. Try harder. You can’t be that tired; you got a full night of sleep. In my mid-20’s it really started to interrupt my life. With no clear explanation as to why, I began experiencing muscle and joint pain in my arms and legs. I saw many doctors and specialists, but they couldn’t provide any answers. I worked hard to “push through it”, I wanted a  “normal life”. Everyone has their aches and pains, but more and more, I found it harder to believe that my condition was typical.

In my late 30’s I started on a “medical journey”. I researched my symptoms further and reviewed my medical history as a whole. I began noticing things that my past doctors had either taken for granted, missed or didn’t fully understand. I obtained new insurance and was able to meet with several different doctors and put together the right healthcare team for myself. Finally, at 39, I was properly diagnosed. I was prescribed medication that has made a huge difference in my quality of life. I am no longer in persistent pain, suffering from mental fog, or feeling constantly tired. I have more energy and therefore can be more active and present. I still have the disorder, and most likely one day I will be disabled by it. But for now, I have my life back.

Right now it (HPP) is rare, but the reality is that most likely it isn’t rare at all. It took me about 15 years, from my first serious onset of symptoms in my mid 20s, to get my diagnosis. I saw a hematologist/oncologist, pain specialist, fibromyalgia specialist, neurologist, orthopedist, primary care/generalist in my first year and eventually they sent me to a psychiatrist. Later I just passed along from one primary to another, until I found one that would actually listen. Soft Bones has positively impacted my journey as I no longer feel alone.

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