Patient of the Month- Iris
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Written by Iris’s Mom
Iris is a bright, loyal, and brave 10-year-old with childhood-onset hypophosphatasia (HPP). She was born four weeks early, at just 35 weeks and weighing 5 pounds. She is currently a fourth grader who loves singing, acting, swimming, and making people laugh. Although HPP has been part of her life since she was very young, it has never stopped her from being curious, creative, and determined to live life like any other kid.
Iris’s journey with HPP began when she was around two years old. At the time, we noticed that her front teeth were becoming loose much earlier than expected. Initially, we thought it might be related to a fall she had taken, but things became more puzzling when she lost her lower front teeth by the age of three. Her first tooth disappeared while we were shopping at Target. She was sitting in the cart eating a snack when suddenly it was gone. We realized she had swallowed it. Shortly afterward, another tooth came out with the root intact, which seemed odd. Later, we learned it can be a hallmark sign of HPP.
At the time, we did not yet know what was causing these unusual symptoms. Iris saw many doctors as we searched for answers. She also experienced what may have been a fracture during a visit to a trampoline park when she was three years old, but imaging at the time was not definitive, and the connection to HPP was not recognized.
The pieces began to come together as we explored family history and sought specialists who were familiar with metabolic bone disorders. Iris eventually saw a metabolic bone specialist and a geneticist. Genetic testing confirmed a mutation in the ALPL gene, which is the gene responsible for HPP. The diagnosis also helped us better understand our family history. We came to learn that her mother (me), aunt, uncle, grandfather, and great-grandfather all shared the same mutation. Interestingly, Iris’s great-grandfather confirmed the mutation during the final year of his life, partly out of curiosity about family genealogy. He had long been interested in tracing family history but had encountered gaps due to historical records lost in a fire in the early 1900s. Unexpectedly, HPP helped provide another clue in our family’s story.
Iris was treated with Strensiq® from the ages of three to five. Although the treatment was initially helpful, it was eventually discontinued due to unpleasant side effects, and her care team decided to monitor her condition closely for now.
Today, Iris’s biggest challenges with HPP are related to her bones and dental health. She has osteopenia, which means her bones are not as well mineralized as typical bones, and she is at risk of fractures. Because of this, she has been advised to avoid contact sports. Running long distances and certain physical activities can be difficult, and sometimes she feels like she cannot quite keep up with other kids. Long walks can cause fatigue in her feet, and extreme heat can make things harder as well.
In addition, Iris has hypercalciuria and calcium deposits in her bladder, which are closely monitored due to an increased risk for kidney stones. Dental issues have also been a significant part of her experience. Her mouth is currently small, and she now has an orthodontic expander to help create space for her teeth as they develop.
At school, Iris uses a few accommodations that help her succeed, including a rolling backpack so she does not have to carry heavy books, flexible seating options, and extra time if needed. Despite these challenges, she is an exceptional student and an avid reader whose reading level is several grades above her current class level.
One of the things we are most proud of is Iris’s determination and resilience. She has endured many medical appointments, injections, and blood draws over the years, which are experiences that can be especially difficult for a young child. Yet she continues to face these challenges with courage.
Outside of medical appointments, Iris loves being active in ways that feel good for her body. Swimming has become one of her favorite activities, and she recently advanced to be eligible to join the swim team. In the water, she feels strong and capable.
Iris is also deeply creative. She loves singing, acting, telling jokes, and making other people laugh. Her personality can best be described in three words: loyal, brave, and kind. She has a special gift for lifting people’s spirits and bringing joy to those around her.
Being part of the Soft Bones community has been incredibly meaningful for Iris. She enjoys being part of the Hippo Squad and especially loves attending events and meeting other kids with HPP. One of her favorite memories was attending the 2022 Soft Bones National Patient Meeting, where she had the opportunity to meet and play with other children who truly understood what it is like to live with a rare condition.
Beyond these events, Soft Bones has helped connect Iris with other children with HPP from across the country, and she communicates with them regularly. These connections have been especially important, as there are no other children in her school or local community who share her experience. Having peers who understand what she is going through has helped her feel less isolated and more supported in her journey. Many of these children have also become inspirations to her; their strength, resilience, and the activities they pursue motivate Iris to keep pushing forward and to continue doing the things she loves.
Living with HPP has also helped Iris find her voice as an advocate. She likes sharing information about rare diseases and explaining her condition to others. Even when people misunderstand or do not immediately know what HPP is, she isn’t afraid to speak openly about her experience.
When asked what she wants the world to know about living with HPP, Iris says:
“Don’t give up.”
Even though she lives with a rare disease, Iris continues to pursue the things she loves and looks forward to the future with optimism. HPP is just one part of her story.
As her parent, the hardest part is knowing I cannot take these challenges away from her, but the greatest gift has been watching her face them with courage, humor, and heart. Iris has taught me more about strength and perspective than I could have ever taught her.
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