Today is hypophosphatasia awareness day and I wanted to talk about my new diagnosis and what this means for my health. If you want to learn in depth what the disease is you can read my article I posted yesterday ☞ Hypophosphatasia: What is it?
Hypophosphatasia: My Story.
My entire life I have dealt with skeletal abnormalities and we never knew why. I was born with bowed leg bones where my tibia bones in both legs are literally bent. I had to wear braces to bed every night as a child to try and help correct the bowing. As I got older I was told I could have surgery to correct my legs but it would be a major surgery and I would have to learn how to re-walk so we decided against it. Throughout my childhood, I broke A LOT of bones and had issues with my teeth and slow healing. I broke my fingers, wrists, elbows, shoulders, and nose multiple times and dealt with a lot of bone pain and muscle weakness.
When I was diagnosed with Crohn’s in 2009 my doctors seemed to attribute everything to that, including my weak bones. It wasn’t that much of a stretch given malnourishment and brief use of steroids. However, when steroids absolutely devastated my bones in a very short amount of time my doctors were confused but never looked for an answer.
The clue to my diagnosis was in my blood work the entire time.
After my hip replacements failed only after three years I knew something else was going on and decided to do something about it. After checking all of my medical records I noticed one trend, which was low ALP, and not just barely low they were super low. Eventually I came across Hypophosphatasia and I checked off every box. I brought it up to my medical team as we were getting ready to start osteoporosis treatment, which could make things worse for HPP patients they decided to send me to an endocrinologist. We went over my history with the bowed legs, severe osteoporosis, 4 total hip replacements and that I have broken too many bones to count he believed Hypophosphatasia seem to fit. He wanted to do a vitamin B6 test and that came back high, which is very specific for HPP so, we decided it was time to see a geneticist because that’s the only way to get a definitive diagnosis. About two weeks after I saw my geneticist for the first time I got the news that I did, in fact, have a mutation in my ALPL gene that is causative for Hypophosphatasia and that all of my crazy skeletal problems from birth were due to the disease and after 25 years of not knowing, we finally figured it out.
It’s extremely rare.I did not really understand the gravity of it all until I sat down with my geneticist and we started going over the disease. First off it’s extremely rare, which makes it even harder because only a few doctors specialize in it and there aren’t many others to connect with. I found out that it could affect my entire body such as my kidneys, brain, and lungs. I was told it’s progressive so gets worse over time and a lot of patients lose the ability to walk and over the last year I can really feel my health has declined. It has complicated my entire health situation because of also having Crohn’s that can affect multiple organ systems as well and we have to figure out the best way to treat each disease.
There’s something I haven’t shared publicly yet about my hypophosphatasia.
As a person who is chronically ill, my biggest fear is that my children will be sick. With Crohn’s I have that fear but it’s not 100% genetic so there’s hope I would not pass it on. Hypophosphatasia is different, as you have to inherit the mutation to get the disease.
Mine is autosomal dominant.
This means that with every child I have there is a 50% chance they will inherit my mutation and get the disease. Doesn’t matter if my wife has a mutation (she doesn’t) and if we have one kid who inherits it that does not mean the second won’t. There is a 50% chance with each child no matter what. That was even harder to grasp. I know what I can handle. I’m strong and can push through, but my kids? I would never wish my health problems on anyone but especially not my children. The silver lining to this is that we know what to look for ahead of time and can allow my medical team to keep a close watch on our future children and have medication available right after they are born if needed. We know that steroids make things worse and to avoid them as much as possible. Knowledge is power.
Now that we have a definitive answer we at least know what to be monitor. I have had so many tests ran recently, with a lot of focus on my kidneys. My kidney function tests are a little elevated meaning it looks like HPP is affecting them. Nothing major right now but we have to monitor them closely. I have more people on my medical team than I ever have previously because HPP can have systemic effects. GI monitoring Crohn’s, Rheumatology is monitoring my arthritis, my orthopedic surgeon is revaluating my hips and prosthesis, endocrinologist is monitoring the HPP and Osteoporosis and my PCP is monitoring all kinds of stuff. It’s overwhelming to say the least.
There is only one treatment available for HPP and it is an enzyme replacement shot that is only approved for the prenatal, infantile and childhood forms of the disease. After consulting some prominent specialist they all feel I should qualify for the treatment so we are currently pushing to get that approved.
Being diagnosed with any disease is hard, and even harder when it’s an ultra-rare disease with very few people to connect with and treatments available. Like I stated previously the clue to my diagnosis was in my blood work, but no doctor knew what to look for and I hope to help change that. My doctors have told me with all of this they are learning what to look for and getting more familiar with the disease themselves. I was asked by my medical team if I would let them write up a case study on me for a paper and future textbooks, in an effort to help educate the next generation of doctors, which I said absolutely. IBD will always be a part of my life and something I advocate for, but I really intend to focus on HPP for a while because of how rare it is there is a lot of work to be done.
I will fight as hard as I can for a better future not only for me, but others as well with this disease.
Hey Aaron, I am an endocrinologist in training and have to give a presentation on hypophosphatasia. I will be talking about it in depth in front of other endocrinologists, and will be sure to mention your story!