Patient of the Month- Evie M.
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This story is written by her mother, Carolyn.
Our sweet Evie Sue is, above all, a ballerina. When she was 2, she used to watch clips of Mother Ginger from The Nutcracker over and over obsessively on YouTube. The first time she walked into a classroom without tears was her first day of ballet. When she was four, her big sister was cast as a Gingersnap in a student production of The Nutcracker! She watched, mesmerized, the big girls in their “Pointe Up” shoes, and sat through the production multiple times without so much as a wiggle. At seven, she is in her fourth year of ballet class, still obsessed with the Nutcracker, and recently announced that she feels like she was “born to dance!”
And every time she expresses her ardent love of dance, my stomach knots in worry. How long, I wonder. How long will her stamina hold? How long will her body support this movement? How do we support the dreams of this little dancer who was born with HPP?
First, let me say how blessed we are to be chosen to tell our story in February. February is heart month, and Evie’s story started long before we knew she had the added complication of HPP.
Evie was born a week before her due date at 9 lbs, 4 oz. Everything about her screamed of health – she started growing and gaining right away, and we all breathed a sigh of relief.
Because her sister had been born with a congenital heart defect, our first trip to a specialist was to see a cardiologist for an echocardiogram about a month after she was born. That was the day we found out she not only had the exact same type of defect as her sister, but it was even larger.
The next few months were rough. In December she contracted RSV. She was hospitalized for a week with severe breathing trouble, all complicated by her heart defect. She started to lose weight, which she was never able to recover from, and I watched my 9 lb 4 oz baby drop into the 17th percentile. By February 2018, her cardiologist was unwilling to wait any longer to perform open heart surgery to repair her defects.
And now, in February, exactly seven years later, we get to tell the rest of her story.
The trouble with having a substantial diagnosis early in life is that everyone kind of just stops looking for more. After Evie’s surgery, her struggles continued, but the convenient excuses began: “Oh, it’s probably just a delay from her surgery” and “Oh, it’s probably just while her heart heals”, and I believed them.
By the time she was ten months old, it was clear that something more was going on. She was facing some fairly significant gross motor delays, so we started physical therapy (PT), hoping we could catch up and have her walking “in time”. We discovered she was globally hypermobile and had hypotonia and was very, very wobbly. After eight months of PT and orthotics for her hypermobile ankles, she finally started walking a couple of weeks after turning 18 months old. We did it! She was discharged from PT.
But Evie continued to struggle.
She fell often. She continued to struggle to gain gross motor skills, like walking up the stairs and running. She fell when she was about two and bumped her front teeth. Her dentist found them to be so loose they had to be pulled, and we all thought she must have bumped them harder than we thought.
But we had bigger trouble to worry about. What started as a nasty bout with croup at 18 months quickly progressed to multiple nights in the emergency department (ED), struggling to breathe, and a chronic croup diagnosis by age 3. She was sick. Often. They discovered chronic inflammation in her esophagus and theorized it was linked to the weak muscles around her epiglottis that kept it from closing all the way when she swallowed. She would also start screaming out of nowhere and suddenly vomit.
By three, she refused to play at the playground because she was so scared of falling, and that’s when I took her back to PT. She was lucky enough to qualify for aquatic therapy, which none of us knew at the time was undoubtedly the best thing for her, and started OT in the pool as well. She got another set of orthotics too. She worked with a speech-language pathologist (SLP) to help her learn to talk around her missing teeth and underwent vision therapy to help with balance and improve her eye-muscle coordination.
But Evie continued to struggle.
She didn’t progress as expected. She struggled with potty training. She did not start sleeping through the night until she was 3, and even then, her sleep was troubled. She spent another several days in the hospital with what was thought to be a bad virus and turned out to be c. pneumoniae, a mild bacterial pneumonia that only causes problems for NICU babies and the elderly—and, apparently, Evie. Shortly after, she was diagnosed with illness-induced asthma. Then she tripped and her doctor was pretty sure she broke her foot, but nothing could be found on the x-ray.
One day in the midst of this, when she was about 4, her sister was trying to pick her up and dropped her from about two inches off the floor. It was a tiny bump. But it loosened more teeth, which also had to be pulled, and that was when her dentist noticed something abnormal in her x-ray. It was something she had only seen once before in her only patient with HPP. She wrote hypophosphatasia on a sticky note for me because I knew I’d never remember that 16-letter word and sent me back to Evie’s PCP to get her ALP tested.
And there it was. Unarguably low ALP. Within days, I was connected to the Soft Bones Foundation patient boards on Facebook, which have been invaluable for advice, moral support, encouragement, resources, and a greater understanding of all HPP can encompass.
It took us another year and a half to get an official diagnosis. It took us another six months after that to get insurance all sorted out. During that time, her migraines got worse, though we did not have that word for them yet. We spent two nights in the hospital when I could no longer stop the vomiting (migraine symptom for her), talking to neurology and GI and getting an MRI. By last spring, Evie was having 3-4 migraines a week and taking painkillers for the bone pain to be able to sleep at night. Her growth had slowed significantly, and her feet hadn’t grown at all in over a year.
Now, it’s been three months since we started Strensiq. She’s had only two bad migraines. She hasn’t asked for painkillers for her legs once. In November, she said, “Mommy, watch THIS!” and hopped on one foot all the way across the room—something she, at now 7, had never been able to do before. And she’s growing. She’s grown a whole inch in three months! And on the very last day of December 2024, she showed me the best thing. I had bought her a pair of bright pink cowgirl boots at the end of September, just before we started Strensiq. I bought them half a size big in hope, even though her feet hadn’t grown in 20 months by then. Three months later… drum roll please!… her toes are at the end of them.
It’s not over yet. As always, Evie continues to struggle. We’re spending quality time with her new orthopedic endocrinologist and continuing to see her many other specialists. She doesn’t love the shots. None of this is easy. But finally, finally! Her body is getting what it needs to grow.
And maybe, just maybe – what it needs to keep dancing. Fly across that stage, baby girl. We’re all rooting for you!
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