Patient of the Month- Nellie S.

Hi, I am Nellie and this is my HPP story: 

I absolutely love spending time with my family. My husband and I have two sons, Davis who is 13 and Walker who is 10. The boys are at such fun ages and we’re having fun showing them all the fun the world has to offer. Last summer they got to see the ocean for the first time. Having been raised on the East Coast, my favorite hobby has always been water sports like water skiing and tubing, but I haven’t been able to enjoy those activities for a long time.

In 2005 when I was 25 years old I began developing stiffness in my hands and arms when I would blow dry my hair. After a few years, I was finally misdiagnosed with psoriatic arthritis. When I was about 35 years old, I noticed my bone pain increased substantially and I felt as though I had the flu all the time. I never believed my diagnosis of psoriatic arthritis because I didn’t fit within the scope of the medical symptoms of that disease.

It wasn’t until I was 38 years old that I started to notice my blood work had consistently reflected low ALP and it was getting lower each year for nearly a decade. I started to ask about what low ALP meant, and I was constantly told not to worry about it unless it’s high. After doing my own research into low ALP I discovered Soft Bones the US Hypophosphatasia Foundation and learned all about HPP. Reading about the symptoms of HPP made me think about my maternal grandmother, Nana Pearl who suffered so greatly from bone pain and endured a massive decline in her bone health after menopause. Unfortunately, Nana did not have access to the medical resources and community support that I do now, which left her feeling alone and helpless. 

At the age of 69 years, my Nana tragically ended her own battle with HPP through suicide. Knowing this and everything she must have experienced fueled my determination for answers and a correct diagnosis.

I submerged myself in researching everything I could about low ALP and exactly which tests I needed in order to rule out this ultra-rare metabolic bone disease from the ever-growing list of diseases that cause low ALP. The magic test was the B6 test. Fortunately for me, the B6 level came back high, even though the test was drawn incorrectly. 

Getting a diagnosis of HPP would be my next battle. No one would diagnose me with HPP. I soon learned HPP wasn’t anyone’s specialty. I went to countless doctors and countless specialists, but no one wanted to actually give this low ALP or high B6 the diagnosis of HPP. I realized I needed to get in with genetics and have the ultimate test that no one could argue with, a genetic test done on my ALPL gene.

After a tremendous amount of persistence, I was able to get in with Genetics at OU Medical in two weeks rather than the twelve-month wait they anticipated. After 8 weeks, my results were in, I was found to carry a change in one copy of my ALPL gene. This change caused this copy of my gene to not work properly thus leading to clinical symptoms of HPP. I had a 50% chance of inheriting it from a parent and a 50% chance of passing it to one of my two children. Since then, my mom has been diagnosed with HPP and so has one of my sons. Based on symptoms, we can actually go back 6 generations in my family and see who has been impacted by this ultra-rare disease. 

When I got my diagnosis, I went through every range of emotion you can imagine. I was heartbroken for my grandmother who never knew her symptoms were so much more than arthritis and vindication knowing I wasn’t crazy. I had no idea what a huge battle it would be to get treatment for HPP. Literally, no one knew what HPP was let alone how to help treat me. Eventually, I reached out to Soft Bones for help and they quickly helped me with lists of doctors in my area who treated other patients with HPP. Before I knew it, I had assembled an incredible team of doctors and was on my road to treatment with an enzyme replacement therapy called Strensiq. 

The last ALP value I had before starting Strensiq was not measurable in my blood because it was so low. Since 2019 I have been on Strensiq and my quality of life has returned. I have the most incredible medical support system and emotional support system through my family and Soft Bones community. I still live with chronic pain but it’s manageable now. 

I don’t fear for a future like my grandmother’s because I’m on Strensiq and I know it has saved my bones from a journey that could have been a lot like hers. I feel very passionate about supporting others who live with HPP or chronic bone pain searching for answers because I know my grandmother’s experience can be one that heals others. 

If you would like to make a donation to Soft Bones, in honor of Nellie, please click here. 

If you or someone you know is experiencing suicidal thoughts or a crisis, help is available. Please reach out immediately to the Suicide Prevention Lifeline at 988 from your mobile phone or  1-800-273-TALK (8255)