Patient of the Month- James S.
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By James’s mom
James is one of the most resilient 12-year-olds you will ever meet. His positive attitude, kind spirit and love of learning will warm anyone’s heart that meets him. He loves anime, video games, playing with friends and has recently taken an interest in cooking! Learning to navigate his personal HPP journey has had its challenges, but he has risen to meet every single one.
The Early Years
He was born early, weighing only 3 pounds 9 ounces when he was born at 34 weeks. As a preemie, he faced growth challenges, birth defects, and meeting those infant milestones. By the time he was three, he had already overcome so much and appeared to be “back on track” for solid growth and hitting the milestones of toddlers.
Around five years old, we started noticing his growth slowing down and more expression of tiredness, aches and pains, needing frequent breaks with play, and gastrointestinal (GI) issues. I had my suspicions that there was something going on, but I chalked it up to being a preemie as well as “growing pains.”
Towards the end of his kinder year, we got a letter home from the school indicating he was below the growth charts, and we should check with his doctor for potential issues. It was that extra push I needed to go from wondering if I was just a worrying mother and into digging deeper to find out if there was more to his story.
We met with his pediatrician, who ran some bloodwork and referred us to Endocrinology and Gastroenterology. Early on, the endocrinology PA noted his low ALP and mentioned a rare condition called hypophosphatasia (HPP), but indicated it was unlikely and that we’d investigate some other things first. As the year passed and after getting his thyroid in gear, going down the celiac/gluten-free road with no improvements, fluctuation in his growth, and other issues, we sought out a geneticist for more answers. Full exome sequencing was done with nothing “of note” in that first report, and we were back to square one.
Finally, a diagnosis
A new endocrinologist brought up the potential for HPP once again and requested specific genetic testing. It was then that our original exome sequencing report was “amended” to include the pathogenic mutation that indicated he has HPP. Almost three years after starting down this road, we finally had answers. It was both a shock and a relief to hear. I cried; I was overwhelmed. I dove into more research and was familiarizing myself with how variable this rare disease is and I am truly grateful that he only carries one genetic mutation. As of now, he is on the milder end for symptoms.
Wait and Watch, Treatment
We opted not to start Strensiq® right away for a couple reasons. Seeing that he, finally at 8 years old, was showing some signs of ok growth, we didn’t want to rock the boat. Injections are scary – he had already had so many medical things going on, we wanted to give him a break and not cause any distress with starting something we didn’t know much about.
During his diagnosis, we discovered that the genetic mutation came from me, which answered a lot of questions I had about my childhood and into adult life. I became the guinea pig by trying Strensiq® to see which areas “beyond the bone” could improve with this only FDA-approved treatment for HPP.
Nearly a year later, we started seeing signs in James that starting Strensiq® would be more beneficial for him, based on the success I had, the results of his latest ortho scans, and him experiencing more symptoms. His start to the treatment was extremely rough. He had large-scale site reactions accompanied by fevers and severe headaches, which caused us all to take a pause (we were in constant communication with his endocrinologist, PantherRx – the makers of Strensiq®, and OneSource). We paused treatment to allow his body to reset and discussed whether we were to try again. After about a month, we attempted a restart at half dose and saw significant improvement in site reactions as well as overall improvement of HPP symptoms.
He was on Strensiq® for two years but has since begun a break due to site reactions and expressed a desire not to have to do injections anymore.
Community – We Are Not Alone
After receiving the initial diagnosis, I had reached out to Soft Bones. This group has been nothing short of incredible with providing guidance on doctors who can help, community support and educational materials for family, friends and doctors to help share what HPP is. They have offered such a sense of belonging and letting us know we’re not alone, the challenges we each face are real and while we don’t have all the answers, we are pushing to make it easier for the newly diagnosed to not struggle as much as many of those before us have. I don’t know what I would have done without the Soft Bones community.
Hope for the Future
I have seen so much improvement with James since he’s been on treatment for the last two years, and I am hopeful that we’re not setting him back with this break. It’s a struggle as a parent in general to know we’re doing the right things for our children, even more so when we’re faced with decisions, we can’t fully grasp the impact of. We’re hopeful that more treatment options can be made available for those with HPP who can’t handle the injections, those who aren’t compatible with Strensiq®, or whose symptom improvement was not achieved. James is eager to see what the future holds with new research and new treatment options.
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