When I was diagnosed with my ultra-rare genetic disease Hypophosphatasia back in August 2017 I was told there was only one approved medicine to treat the disease and not every patient is eligible to get on the treatment. The main reason is that the drug is only approved for patients who have a specific form of the disease based on the age of onset, which for this disease its called perinatal/infantile, juvenile & childhood forms basically presenting symptoms before the age of 18. So after a few months of making sure I met the guidelines, which I did we decided to start working to get this medication. My local doctor had never seen the disease before, neither had my geneticist so I decided to find a doctor who specialized in treating the disease and could also make sure that this is what I should be on.
I ended up at Vanderbilt in Nashville Tennessee with Dr. Katherine Dahir, who is incredible by the way and one of the worlds leading specialists in the disease, so she did a complete evaluation of me. After a day of tests and her realizing that I have been affected by the disease from birth and it has absolutely ravaged my skeleton, she agreed I needed this drug. So after months of making sure we had enough information to prove I had onset prior to 18 and that I do have the childhood onset of the disease, we finally got approval for me to get on Strensiq and I received my first shipment July 21st.
What is Strensiq?
This is a big question people have asked. Well, it is an enzyme replacement therapy that replaces the enzyme my body can’t make, and what it does make is not fully functional. The enzyme is called alkaline phosphatase (ALP) which I have detailed in other posts ☞ Hypophosphatasia: What is it? and Hypophosphatasia: My Story but basically, this enzyme allows important minerals into the bone including calcium, magnesium, and phosphorous and also regulates vitamin B6 levels which if too high can cause nerve damage and in children can cause seizures. Without enough ALP these minerals cannot enter the bone and they circulate in the blood collecting on organs which can be damaged and cause a lot of the symptoms associated with the disease. Strensiq will allow my bones to take up the minerals and hopefully strengthening my bones while also getting rid of excess calcium, B6 and the substrates that build up in my body which are detailed a little further in the post.
So I will be taking this injection 6 times a week for the rest of my life, as long as I respond to it of course. Dr. Dahir stated we are playing the long game with treatment meaning it could take years before I see dramatic improvements in pain and quality of life but I should start feeling a little better sooner. While I am not thrilled about doing 6 shots a week, it is much better than the alternative. My osteoporosis is really severe and I am trying to make my hip replacements last as long as they can. The disease is progressive overall and I potentially could end up in a wheelchair, but hopefully, with this medicine, we can prevent that or at the very least slow it down. It’s not a cure or a silver bullet but its the only chance I have at getting better. Also, the price tag on this drug is absolutely insane. It costs way way way more than any of the IBD treatments available. It is one of the most expensive drugs on the market. I was in shock at the monthly amount. Just saying.
Long-term goals:
I have had a lot of people ask what are the long-term goals of treatment for me. Because this disease is so rare I am planning on documenting as much as I can about my experience with the drug and improvements I feel. So here are my current problems and what we are hoping to address with treatment.
• So my bloodwork shows I have high levels of calcium, magnesium, phosphorus, vitamin B6, phosphoethanolalamine and inorganic pyrophosphate which helps in bone mineralization, just free floating and not getting into my bones and causing the manifestations of the disease. So these will be levels we can monitor with treatment to see how it is working.
•I have severe osteoporosis (severe is really an understatement), muscle weakness, severe pain, and disability. My bone and muscle problems are just really severe which is hard to really explain in words. I am way below average on daily activities that should be easy. I have a hard time getting myself dressed and putting my shoes on. I did a 6-minute walk test at Vanderbilt which I was way below average on. Basically, I am slowly losing the ability to be independent in my daily life.
•I have kidney problems due to excess calcium in my body that we can’t get down to normal levels, this is also causing other issues but kidney damage is the most pressing.
• I have had 4 total hip replacements because of avascular necrosis and my bones and muscles have been too weak to keep my implants in place and I also have AVN above my knees/end of my femur bones and in one shoulder. The AVN will not get better but hoping to slow it down but truthfully it may not given the nature of AVN.
• I have really bad headaches & “brain fog” that are known to happen with Hyphophosphatasia.
Long-term as a whole I am hoping to have a decrease in fatigue, improved muscle strength, bone strength and really just preventing further damage to my kidneys and keeping hip replacements in. My quality of life is way less than I want it to be and the pain I experience is debilitating. There is a chance I could end up wheelchair-bound at some point so hoping treatment slows that down. As I am finishing this post I am a few weeks into treatment (my first 6 shots) and its been a rollercoaster. The first round of shots I was so tired the next day I could barely function, the second dose wasn’t as bad I didn’t feel as tired but did have more bone/muscle pain and the the third dose I didn’t feel much different than the others. It is a rollercoaster though as some days I feel okay and then this last week I have been really sick. The skin reactions really suck though as pictured below.
I am also on Humira for my Crohn’s so two weeks out of the month I do 7 shots a week. One big difference as far as handling Strensiq vs Humira is that Humira is good at room temperature for 14 days. Strensiq is good at room temperature for 1 hour. So that is stressful if I have to travel.
My goal is to share as much as I can about my journey with an ultra-rare disease, while also learning as much as I can. Hopefully by sharing my experiences with this that it adds to the growing knowledge of this disease and treatment as a whole. There are very few of us Hypophosphatasia patients out there and I want to share as much as I can to hopefully help others. This journey has been hard and I have had to put a pause on important aspects of my life and I am hoping with treatment I can get back to my goals and feel myself again. I will fight and I am hopeful.
