Living with HPP- Courtney
In the spring of 2020, I was officially diagnosed with Hypophosphatasia through genetic testing. In retrospect, the signs and symptoms have been evident since my teenage years. Abnormal joint issues prompted the medical investigation. Over the past 20 years two main activities that resulted in many minor injuries were volleyball and piano performance studies. Some of these were sprained ankles, chipped knuckles, broken fingers, hand sprains, and tendinitis in my elbows, wrists and hips. I also suffered from TMJ. My jaw randomly dislocated in my sleep one night and I had a locked jaw for many months. Through it all, I thought my injuries were normal wear and tear from a rather intense schedule. Recently, however, that started to change. I sprained my thumb while playing volleyball and it took a very long time to heal. A month later, my ankle swelled to the size of a tennis ball for no apparent reason. Shortly after, I suddenly couldn’t walk and was in extreme pain, which landed me in the hospital. MRI imaging revealed my spine had significant degeneration of the discs and I had two large herniated discs as well as slipped vertebrae in my lumbar region. Subsequently, I had lumbar spinal fusion surgery. I am also suffering from a herniated disc in my neck, which may require surgery as well. In addition, I often have rib pain, which some days is debilitating.
I credit my new amazing family physician with caring enough to thoroughly investigate my symptoms, which led to my diagnosis. His initial suspicions that I may have HPP were precipitated by my low ALP level and my physical symptoms. I was referred to several specialists for consultation including an orthopedic surgeon, rheumatologist, neurosurgeon, and an internist. All of these specialists initially dismissed our concern of low ALP levels and elevated B6. They had extremely limited to zero knowledge of hypophosphatasia and I felt they doubted there was anything out of the ordinary with my case. So I began my own research. At this point, I discovered the Soft Bones Canada organization. I reached out to them and joined the Facebook support group as well. I was given contact information for a Canadian HPP specialist who referred me to a metabolic specialist in my province. She ordered the genetic testing to confirm the diagnosis. Further testing also confirmed that one of my daughters and my mother as well has HPP.
In my experience, the adult onset symptoms are life changing. I have been unable to work for the past year while waiting for lumbar surgery. I live with chronic bone and nerve pain, as well as chronic fatigue and brain fog. I am constantly medicated to cope with pain and suffer unpleasant side effects as a result. As I recover from surgery, I am hopeful some of my issues will improve as healing progresses. I also hold out hope that one day Strensiq will be covered by Canadian health care for adult onset HPP. Currently, this is not an option for me due to the astronomical price for the drug. A very difficult aspect of this journey is finding a doctor who fully understands this disease and is able to treat it accordingly. I find it necessary to do my own research before asking my doctor to order specific tests. The Soft Bones organization has been an amazing source of support and information for me. I am constantly learning about this rare disease through shared medical documents, webinars, and communication with others who live with HPP everyday. I am forever grateful to have discovered the Soft Bones community.