Meet Nisha P!

Hello, my name is Nisha P. I was diagnosed with adolescent-onset hypophosphatasia (HPP) in March of 2024, at the age of 49. My son, who was 10 at the time, was subsequently diagnosed in April of 2024, and we both received genetic confirmation of autosomal dominant HPP by September of 2024. My daughter, who was 16 at the time, tested negative for HPP, but we have since identified which of my parents has HPP as well. My first child was born 8 weeks early and passed away the day he was born in 1998. He had multiple deformities, and although he had genetic testing, there was nothing identified at the time. I now of course suspect he also likely had HPP, amongst other co-morbidities. 

I came to find out I had HPP after moving through a series of medical concerns with my son. I had very challenging pregnancies with all 3 of my children, including hyperemesis gravidarum, which increased in intensity with each pregnancy. All of my children had unique needs as babies that didn’t make sense or have a source. I experienced significant challenges with hormones my entire life, from the time of puberty, which also didn’t make sense, that I had come to accept as an endocrine system mystery that was unique to my biology that would likely never be solved. These were the biggest of my challenges, but certainly not the only mysteries that were unresolved from my health and medical history. 

I went to a functional medicine clinic that focused on hormonal needs in January of 2024, and they were able to complete and evaluate labs in much more detail than my primary OB/GYN. In those labs were found low ALP markers and high B6 markers that matched markers my son had that I had previously discussed with his doctors and were unresolved in my mind. My functional medicine NP was aware of HPP and had several patients with HPP, and was able to identify my labs as a likely indicator. She was right! I’m so grateful that she knew of HPP and was able to identify this for me and my son; otherwise, we would both still be struggling with pretty significant life-changing symptoms without any answers. 

Being diagnosed so late in life was a whirlwind and took me a while to find my footing. I have been on Strensiq for a year now, along with other supporting HRT and supplements, and I am doing significantly better than when I was diagnosed. Since the beginning, I have been interested in connecting with others who have HPP and finding community locally. When I attended my first national Soft Bones patient meeting this year, the first person I met was a Central Region Lead, and I let her know I would love to help out in any way I can with connecting others in Colorado. And to my surprise, they were looking for more leads for our region! So I applied and am now so excited to introduce myself to you as the new Soft Bones Central Region Lead in the Colorado area! 

I have so much more to share and so much more I am interested in learning from all of you. I’m grateful to everyone who has helped me and my family in our journey, both inside and outside of the HPP community, and I look forward to connecting with you more.