Patient of the Month- Emily H.
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Hi, this is Emily, and she is 11 years old. She was diagnosed with HPP in August of 2023 (right before her 10th birthday). An above-average number of fractures is what led her doctors down the path of testing for HPP. We’re not exactly sure when her journey technically started. She was just 2 years old when she got her first fracture and 3 years old when she got her second fracture. However, Emily didn’t get her next one until she was 8.
Between the ages of 8 and 10, Emily had a total of five fractures. To make things more confusing, they were all from low-impact activities. After the first few fractures, her orthopedic doctor, Dr. Diamond at Vanderbilt Orthopaedics, ordered basic blood work to make sure there wasn’t something going on and causing these fractures. All of the bloodwork came back normal so we thought it was a run of bad luck. After two more fractures, Dr. Diamond was completely on board with investigating it further. He referred us to Dr. Simmons at Vanderbilt Children’s Endocrinology who he said was the best pediatric bone specialist to see (ironically, our pediatrician had also worked with Dr. Simmons during her residency and highly praised Dr. Simmons as well). Six months later, we got in to see Dr. Simmons. In our initial visit, Emily met the criteria to do the Invitae genetic testing, but Dr. Simmons wasn’t expecting anything to show up. Much to all of our surprise, Emily had a genetic mutation confirming HPP. From there, she ordered full body x-rays, and once again, she said she didn’t expect to see anything concerning. Much to our surprise again, all of Emily’s long bones (as well as some other areas) showed widening in the provisional zone of calcification with decreased density. It also showed mild osteopenia. Getting these results was a bit overwhelming but at the same time brought answers to why Emily was getting fractures more frequently than normal. Emily had also complained here and there of bone pain that we always brushed off as growing pains but once again, we now knew there was a reason she was having those pains.
Emily holding up the Stick it to HPP achievement tracker.
After her initial diagnosis, we were undecided on whether or not to start Strensiq. It was a lot to think about as she would need 2 shots 3 times a week (so 6 shots a week). As her mom, I was concerned about starting her on something like this at such a young age (especially knowing some of the not-so-fun side effects) but after a lot of careful thought and consideration, we decided with Dr. Simmons that it was worth trying. Thankfully, insurance approved it quite quickly and she got her first shipment in January. On January 31st, the nurse came to our house to take Emily and our family through the process of giving her the shots. Emily was (and still is) a total rockstar and even gave herself her very first shot. While I know she was nervous, she didn’t even hesitate to give herself that shot. From that day onward, any shot in her belly or legs, she gives herself and any shot in any other place, I (her mom) give her. She has taken full control of her meds and preps her workspace, gets all of her supplies laid out, and draws up the syringes — all on her own!
“Doing the shots on my own helps me to feel in control of the injections. I like being able to react on my own as I inject the medicine (if I need to slow down because of the pain). I know this is something I have to do for maybe forever and it’s been better knowing I can do it all by myself. I know that I’ve got this!” — Emily H.
Her time on Strensiq hasn’t been a cakewalk — she gets the common injection site reactions frequently (some worse than others) and it’s a lot for her to mentally and physically prepare for 6 shots every single week at such a young age. But, we’ve been so incredibly proud of how she has handled not only the diagnosis but everything she’s gone through with the Strensiq shots.
A big piece of Emily’s journey with HPP intersects with her love for the sport of gymnastics. She has been taking gymnastics since she was 3.5 years old and she has developed a very deep love for the sport. She joined her gym’s competition team in 2022. In her first year on the team, she was in a cast or a boot three times — but that never slowed her down a single time. She only missed one practice because of an injury and was at the gym for every practice even with a cast or boot on — she worked on what she could and strengthened the areas that she could while restricted with her injuries. Her frequent fractures have created a bit of fear in the gym — Emily is always worried about when the next one will happen and it’s held her back from going for some of the skills she wants to get. We’re hoping the longer she is on Strensiq, the more confidence she’ll have and the less worry she’ll have about fractures. Her coaches have been great at supporting her each time she’s been down with an injury and her coach this year (Ms. Natalie) has been so supportive. She is constantly checking in on Emily and how she’s doing with her shots and ensuring she’s okay. Even with the underlying fears, she still keeps working hard at it. Having a hero like Simone Biles (the GOAT of gymnastics), who has faced many challenges of her own, helps Emily to keep looking towards the future and working hard through the tough times. Emily has BIG dreams of being on a college team! This summer, Emily and I will travel to Minneapolis for the Gymnastics Olympic Trials and we can’t wait to see Simone and all of the other amazing gymnasts compete for a spot on the US Olympic team.
Our journey wouldn’t be what it is without the help and support of some incredible organizations. At the beginning of Emily’s journey with Strensiq, we were referred to the Avalon Foundation. If you aren’t familiar with this organization, it is absolutely amazing. They are a foundation that sends kids like Emily who have rare diseases and are on difficult injections something they call “Pain Boxes.” Research shows that having a gift to open after something painful (like the shots) helps the pain go away. The foundation sent Emily (and our family) a box full of gifts to open over the first 12 weeks of her time on Strensiq. Emily has enjoyed having something to look forward to each week with her shots. She told me once that it helps make the shots so much easier. This foundation has been so supportive of Emily and our family (they even sent her two brothers some goodies to open and some things for us to have as a family). On Rare Disease Day at the end of February, they also sent Emily a handmade blanket. Additionally, I found the Soft Bones organization on Facebook and have made some fantastic connections with others in the Soft Bones patient group. We’ve also joined the Soft Bones Hippo Squad (an initiative for kids with HPP and their siblings, which includes fun activities to do as a family throughout the year). Emily has just started the Soft Bones “Stick it to HPP” program, which helps support kids/teens who give themselves injections.
Emily’s HPP diagnosis has certainly been overwhelming (and at times, I’m still not sure I’ve fully wrapped my head around all of it) but we’ve been completely blown away by the support we’ve received from the HPP community. In the Soft Bones Facebook group, I was able to connect with two other moms who both have daughters with HPP in the same grade as Emily and who both love gymnastics. The three girls have connected via Facebook Messenger for kids and we’re hoping we can all meet each other at the Soft Bones National Patient meeting in Ohio in July. We’ve also received incredible support as I mentioned from the Avalon Foundation as well as our patient case manager with Alexion, the Soft Bones organization, and our family and friends — all of which have made this journey into the world of HPP and Strensiq so much more manageable.
In looking to the future, we’re all hopeful that Emily continues to see decreases in pain while on Strensiq (and hopefully more research brings less intense medications/therapies in the future). We also hope Emily can feel more at ease and worry less about when she’ll get her next fracture. I’ve told her a thousand times already, and I know I’ll say it a thousand times more but I am so incredibly proud of how she has handled all of this — she’s handled every fracture, this diagnosis, the shots, and everything in between with so much positivity and strength. She is truly my little HPP Warrior. My hope as her mom is for her to live as much of a normal life as she can and experience everything she wants as a kid and as an adult. The HPP journey isn’t easy and it’s full of a lot of uncertainty, but the best advice we can give others is to know that there are others out there who are in your same shoes, and we will all support and tackle this beast together.
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