Patient of the Month – Michelle S.
If you would like to donate to Soft Bones in honor of Michelle, please click the button below!
The physician who discovered my hypophosphatasia (HPP) was Bridget Evans, a nurse practitioner (NP). I was scheduled for an appointment with the medical doctor at my local rheumatology office, but he called off due to a family emergency. They asked me if I was okay seeing the NP. Saying yes to that one question changed my life. As soon as she came in the room, she said she had looked over my lab work and noticed that my alkaline phosphatase (ALP) levels were chronically low. She had heard about a rare condition called HPP. Based on my lab work and symptoms, she thought I had it. She reached out to her Invitae representative and was able to get a skeletal panel completed on me. After waiting months for the results, I found out that something was wrong with the paperwork and I needed to redo it. I had to wait a few more months for the actual results. When it came back, it was positive for the ALPL variant. I was so happy! Never in my life did I think I would be happy to find out I had a rare disease. I had spent my entire life feeling like I was different and over 10 years in pain trying to figure out what was happening to me.
As a child, some signs pointed to HPP, but they were blown off as growing pains or me needing to build up my endurance and lose weight. Since my grandparents raised me, they did things a little old school. You didn’t go to the doctor for every ache or pain. We also didn’t have financial assistance for medical bills or health insurance as available as it is today. As I got older, I continued to feel different than my peers. Feeling different caused me to have issues with my mental health. It became a cycle of my pain making my mental health worse, then my mental health making my pain worse.
Over the years, I was told by doctors that all my problems came from being a smoker. I stopped smoking, and my issues did not get better. Then they told me if I lost weight, I would feel better. I lost weight but only felt worse. I tried going to the gym and building up endurance and muscle. Nothing helped me; in fact, I was in more pain than I had ever been in. I have had so many tests and scans with radiation that I am now on thyroid medication for the rest of my life. For 10 years, I kept going to the doctors, and for 10 years, I kept searching for the problem. I kept hoping we would find something that made sense and that there would be a pill I could take to fix it all. All 10 of those years, I had chronically low ALP levels. For 10 years, I was told it wasn’t a big deal.
Growing up, I wanted to join the Air Force. I didn’t have a particular job in mind, just as long as I was in the Air Force. When I was 18 years old, I went to the recruiter to join but was unable to because I had an infant daughter. Back then, they only told me I had to get married or give up my daughter. I wasn’t ready for marriage, and I wasn’t giving her up. It wasn’t until I was 32 years old that I learned that I could still join if I had a bachelor’s degree in something specific and was under the age requirement for that degree. Since I had worked in health care all my adult life, I chose nursing, and the cutoff age was 46! I was elated! I could still join the Air Force. All I needed to do was get into shape and get my degree. I was working on my degree, and I was trying to get into shape so I could join. Before I was able to complete these goals, I received my HPP diagnosis. My first reaction was pure happiness. I finally had an answer. I wasn’t completely crazy like some people said. I wasn’t exaggerating, like some people said. I wasn’t being a hypochondriac, which is what I started to think. I WAS RIGHT!
Well, that was short-lived… Reality set in that there was no magic pill to fix all my issues. I could work on symptom management, but I was always going to have HPP. Since there was a genetic component to it, I set out on a mission to find out if my children had the same condition. I was focused on them. My son, Matthew, didn’t want to know. He feels fine and doesn’t want to open Pandora’s box.
I have three daughters; Cristina tested negative, but my other two daughters, Bella and Chloe, tested positive. Fortunately, Bella does not have any symptoms that we know about at this time. Chloe, on the other hand, has had symptoms since she was 3-4 years old. I was glad to figure out what was going on with her early on, so she didn’t spend her entire life searching for answers as I had done.
I look at myself as a guinea pig for my daughters. Trying things out and seeing how they help, so my girls won’t have as hard of a road as I did. I know that not everything that works for me will work for them, but it is a start.
When the excitement of finally having a name for my condition wore off, and the craziness of getting appointments set up was over, my brain went into depression. I blamed myself for my daughters’ medical conditions and for the impact it would have on them. I felt like I was mourning a life I wanted but would never have. I wondered if I would have the energy to run around with my future grandchildren. Would I be able to travel and do the things I had always dreamed about doing? I was also realizing how much of my life had been controlled by HPP.
When raising my kids, I would hear most parents say bath time with their children was their favorite. I never did. I hated bath time. It was the worst part of parenting. It wasn’t because of my kids; it was just so hard for me to kneel at the tub and lean over. It was painful and exhausting. Other parents loved taking their children to the park. I was never the mom who ran around the park with my kids. I would rather sit and read a book. Even as a child, I never got into sports or extracurricular activities. I was not about to spend my energy doing things like that. I thought it was because I was overweight and that I didn’t have energy (In reality, I wasn’t overweight; I was a normal-sized child). Excluding myself from activities because of my energy levels and pain made me secluded. I didn’t develop friendships the way I should have, and it made my mental health horrible.
At one point, I went down a rabbit hole of depression, thinking about the life I was supposed to have vs. what I had lived. The life I was supposed to have in the future vs what I was going to have. The life my children were supposed to have vs what they would have. It was an internal emotional pain I had never felt.
I still have my moments of sadness regarding my diagnosis and everything that stems from it, but I have started counseling and meeting others living with HPP and parents of children with HPP, which has helped me the most.
For me, the biggest challenge of living with HPP is the mental health aspect. Accepting that it isn’t my fault and that I can’t change it.
At first, I didn’t think getting involved with Soft Bones would be for me. I didn’t think it would help. I was wrong. I found myself in the Facebook group for patients while I was waiting for my genetic test results. It was great to read what others were writing. It made me feel like I had a connection with others who would understand me. Any time I post in the group about something strange or abnormal, I am met with at least 10 other people who understand and are like, “YES, ME TOO!” It has really helped me cope with those things knowing someone else really understood.
This year, I went to the 2026 National Patient Meeting in Chattanooga, Tennessee. I almost didn’t go. I am so thankful I did. I ended up going by myself, which made me nervous, but I didn’t feel alone for very long. It was like being at a family reunion or the TV shows where adopted kids meet their families for the first time. Even though we are not biologically related, we have a connection. And you could feel it. Sitting at a table with other people who REALLY know how you feel and what you deal with was the best feeling in the world. Looking around the room and realizing that ALL the people surrounding you understand was something I can’t even describe. It was amazing. We were able to connect and learn things we didn’t know.
Hypophosphatasia is so rare, complex, and completely different for everyone that it is hard to find a one-size-fits-all solution for any part of it. I was given ideas about things that worked for other people, as well as told what worked for me. I was able to go back to my family doctor and tell her what I learned. We are now trying a couple of medications that others have had success with to see if they help me. Everything is trial and error with us.
What I want the world to know…..
- LOW ALKALINE PHOSPHATASE MATTERS! I don’t care what anyone else says; it matters!
- Just because you can’t see our pain doesn’t mean it isn’t real. By the time you see my pain or see that I am exhausted, I have been feeling it for a long time. I push through until I can’t any longer. When you see my pain and fatigue, it is when I can’t take it anymore. So many of us with HPP suffer in silence and push through until we can’t anymore. You don’t see the days we can’t get out of bed or leave the house. We might have a great night out with family and friends, but the next day, our bodies feel like we were in a head-on collision. It takes so much time for us to recover from one day of fun or excitement.
- Understand that there is an internal sadness that comes with our physical condition. We don’t want to have to sit out or stand back. We want to let loose 100% as other people can. It can make us sad.
- WE WILL CONTINUE TO FIGHT FOR ANSWERS AND SOLUTIONS! We will do the clinical trials, and we will be the guinea pigs for researchers while they look for solutions. And yes, it is partly for ourselves; but it is mostly for our children and our grandchildren. It is for you and your children. It is for the future, one free of HPP.
I want my children to know that I love them, and I am sorry for the ways HPP affected my abilities to be their mother. I am sorry that they will have to fight against HPP, but I will do EVERYTHING in my power to make their fight easier. Eventually, we will win the fight.
Responses