Patient of the Month- Emma W.
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Written by her mom (Jess)
Emma is a beautiful, resilient 8.5 year old who has hypophosphatasia (HPP), a rare inherited disorder that affects the development of bones and teeth.
Emma’s HPP journey started just five days after her first birthday when she lost one of her bottom baby teeth, root and all. There was no trauma to her mouth or anything, it just fell out! We knew this was not “normal” and brought her into the local emergency room, but because it was a baby tooth, they were not really concerned. I insisted that she be referred to a dental institution that had more knowledge because this tooth issue did not seem normal. She was referred to the University of Minnesota Pediatric Dental Clinic. Emma was seen by the dentist, and within 30 minutes, two senior dentists came in to state they believed she had HPP and asked if they could have her tooth for genetic testing.
They also referred her to Dr. Kyriakie (Kiki) Sarafoglou, who specializes in Pediatric Endocrinology & Division of Pediatric Genetics & Metabolism at the University of Minnesota. The initial appointment with Dr. Kiki was a lot to take in as she too believed Emma had HPP. She ran genetics on Emma and said HPP typically comes from a parent. This prompted me to be tested as well since I had many of the HPP symptoms growing up. Fast forward and a few months later, Emma was officially diagnosed with HPP at the age of 16 months old. By the time Emma was diagnosed, she had already lost two teeth, had osteopenia in both wrists and metacarpals and presented with other unusual challenges. Emma would vomit a lot as an infant and would not eat table food which resulted in her receiving food therapy. As is typical of a top heavy toddler, Emma tripped on a bathroom rug and hit her head on the outside of the bathtub, resulting in a skull fracture.
Eventually, Emma’s endocrinologist, Dr. Kiki, suggested she start Strensiq®, an injectable medication that replaces the deficient enzyme alkaline phosphatase (ALP). People with HPP don’t have enough of the ALP enzyme, and the phosphate and calcium can’t bind together properly to form healthy, mineralized bones. Emma’s doctor stated that this treatment was the only FDA-approved medication, and it would take time to see changes in her body. We knew we had to try this medication. However, the thought of giving our tiny child three injections a week was absolutely heartbreaking. How would we explain or get her to understand that these injections weren’t to harm her but to help her in the long run?
In June of 2020, Emma started her treatment journey with three injections of Strensiq a week. So far, Strensiq is working. Her jawbone is growing back, and she has grown up teeth coming in that are strong and healthy so far. Emma has had almost 1,000 injections since she was diagnosed with HPP!
So far, Emma’s biggest challenge with HPP has been with peers bullying her about her site reactions. These reactions result in discoloration on her skin and lumps from previous injections. To cover this, she wears box top shirts that have longer arm sleeves to hide her upper arms. Despite this, Emma is an amazing advocate for herself and others as she explains to them why she has the site reactions. She tells them what it is from and what HPP entails!
She wants the world to know that HPP does not define who she is; it is just a condition she has. She still gets to do all the things she wants and loves in life! One interesting fact about Emma is that she has been doing her own injections for three years now. She says it hurts less when she does it herself.
Soft Bones has been exceptionally important to Emma as she always looks forward to the quarterly packages she receives through the Hippo Squad that support her HPP journey with fun and engaging activities. She loves getting mail!
In July of 2024, we drove as a family to attend the National Patient Meeting in Mason, Ohio, since Emma wanted to meet other kids who had HPP. She enjoyed meeting other kids throughout the United States who were just like her.
All in all, Emma is a force to be reckoned with! She doesn’t let HPP slow her down or hold her back from her day to day activities! Emma is a go-getter. If she has it in her mind to do something (like win a goldfish at the county fair in summer to bring home), she is going to make sure it is accomplished! All goals she sets out to accomplish, she achieves! Ever since she was little, she has loved the outdoors and animals like no other. She is constantly saving bugs and animals in all shapes and forms. She absolutely loves hamsters, hippos, goldfish and capybaras! I have always summed up her personality with this quote from William Shakespeare, “Though she be but little, she is fierce!”
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