Dec 29, 2021
strength in family with hypophosphatasia
For mother and daughter Heather and Chloe Storts and their family, what once was a “mystery” condition is now a well-known and important part of their story, hypophosphatasia (HPP).
HPP is a rare genetic disease caused by a deficiency of an enzyme called alkaline phosphatase that leads to weakened bones and teeth. Symptoms of HPP vary depending on the person, but it can cause bowing of the bones, bone deformity, bone and joint pain, early tooth loss and short stature.
When Heather and her twin brother, Justin, were born, hypophosphatasia was still relatively unknown. “The doctors didn’t even really know what we had or how long we would survive. They told our mom we likely wouldn’t make it through the night, then through the week, and so on. Thankfully, that wasn’t the case, and we know a lot more now than we did then,” Heather shared.
From birth, Heather and Justin went through a variety of treatments at Dayton Children’s to treat their symptoms. At one year old, they had plates put in their head to help reduce swelling, a symptom of hypophosphatasia. Over the years, “we were at Dayton Children’s all the time with broken bones or having surgery. Justin had rods put in his back and legs to help his fragile bones. He ended up needing a wheelchair, but I am able to walk with a limp. Hypophosphatasia affected us differently,” Heather said.
When Heather became pregnant with Chloe, her doctors knew of her HPP and monitored Chloe’s development throughout the pregnancy. Early on, Chloe’s bones weren’t mineralizing or hardening properly, her hands seemed permanently closed, and her long bones in her arms and legs were the same lengths as her short bones. At her six month ultrasound, Heather says “they started to notice changes. Chloe’s bones started to mineralize. The length of her arms and legs evened out. They were a little bowed at birth, but they corrected themselves too.”
Chloe immediately began seeing Stacy Meyer, MD, an endocrinologist at Dayton Children’s. Now, Chloe is 12 years old and Dr. Meyer is an important part of the Storts’ care, checking in on Chloe every three months. “Dr. Meyer is a great doctor and is very knowledgeable about our disease. Chloe is her patient, but she has been helpful in providing resources and support to me too,” says Heather.
In 2015, a new medicine became available to help treat hypophosphatasia symptoms called Strensiq®. Strensiq is the first and only prescription medicine used to treat people with perinatal/infantile and juvenile-onset hypophosphatasia. Heather and Chloe both take the medicine as a shot 3 times a week, and work closely with Dr. Meyer and a case manager to make sure they are getting the right dosage. While it won’t fix any of the symptoms HPP has caused for Heather, it is helping slow the progression. For Chloe, the medicine has been a great help.
“Chloe loves to swim, ride her bike, and sometimes skateboards. Amazingly, she has never broken a bone. That may be because that she just has less severe symptoms than I did, but it’s a blessing for my daughter to have medicine that can help her at a young age that I didn’t have access to until I was older and my symptoms were worse,” Heather said.
Since Heather’s diagnosis, knowledge of HPP has increased tremendously, and there are now HPP support groups and organizations. Heather is involved in the National Organization of Rare Diseases and participates in a “Soft Bones” Facebook group. She also gives to the organizations when she can.
Unfortunately, Justin passed away in 2013 due to heart failure. Joining these organizations and spreading awareness of HPP is important to Heather to continue his legacy and share their family’s story.
“In 2019 we went to our first convention for the Soft Bones group. We got to meet other people with HPP, and our case worker who helps us with our Strensiq," Heather said.
"Growing up, I didn’t think anyone else besides my brother and I had HPP, so I never got involved. Now that I see and interact with all these other people who have gone through similar experiences to me, Justin and Chloe, I feel motivated to give back and spread awareness.”
Every October 30, Heather and Chloe wear their shirts and bracelets to help share the message of HPP. It’s important to them to share their experiences in the hopes of helping someone else who may be dealing with HPP, or has a loved one who is.