Patient of the Month- Adeline H.

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This piece is written by Adeline’s mother.

During my pregnancy with Adeline, my OB couldn’t properly measure her weight or bone density, especially in her skull. I was referred to a high-risk OB/geneticist and it was determined she most likely had HPP due to family history. Thankfully our family had already connected with Soft Bones, Alexion, and a fellow patient. Having that support, knowledge, and access to the geneticist’s information on HPP before my appointment was reassuring.

Before Adeline was born, they said she would be lucky if she was 5 pounds. She was 2.5 weeks early and weighed 6 pounds 8 ounces. At two weeks old, she was officially diagnosed with genetics at the nearest children’s hospital with doctors knowledgeable about HPP. At that time, doctors didn’t think her HPP was severe or that she needed to be on Strensiq.

As an infant, Adeline seemed to always be ill from a respiratory infection or an ear infection. When she aged into toddlerhood she developed HPP symptoms. As she began to learn to stand and walk, I noticed her legs were bowed. She would exhibit leg pain by grabbing her legs and crying. We went to see an endocrinologist. It was discovered she had rickets.

It was a fight with insurance for several months, but she started Strensiq at 11 months old and was on it for about 1.5 years. While on medication, her rickets significantly healed. She received physical therapy for hypotonia in her legs. At age 2 she had a severe bout of colitis; however, this was deemed to have been from antibiotics. After extensive testing due to the colitis, it was discovered she also had congenital laryngomalacia and a gene for celiac disease. Per gastroenterology, she has a 60/40% chance of her celiac gene being activated one day. At about 3 years old, we dealt with a lot of sensory processing issues. She received OT for her sensory issues, but in the end, the injections were too much on her mentally.

Since ceasing the injections, Adeline’s follow-ups with her endocrinologist show that the rickets have not come back. However, she still has pain. At age 5 she had a compound fracture to her left arm from a fall and started kindergarten in a cast. Adeline is now 6 years old. She continues to have leg pains and gets more tired easily when playing at times but she doesn’t let that stop her. Sometimes we have to remind her not to overdo it so she doesn’t spend the night crying in pain. We like to bring our wagon when we go on long outings to give her legs a rest.

Adeline loves to do cheer camp in the summer and she is in ballet class. She likes to express her feelings with drawing. Adeline and her sister love receiving the Hippo Squad activities from Soft Bones. She is learning to advocate at an early age. She was so excited to attend the National Patient Meeting in 2024 and meet other kids just like her. She participated in an awareness video and made sure she had a speaking part to say what she wanted to say to the world about HPP.