An Extraordinary Life
Karly, a Crotched Mountain School student, was recently diagnosed with the incredibly rare PURA Syndrome—that didn’t stop her before and it won’t stop her now
That’s how the doctors described the newborn baby girl.
Not the most elegant adjective, but Kristin Erickson immediately understood. Her baby wasn’t crying, wasn’t moving. Something wasn’t right.
Test after test after revealed nothing. Baby Karly had a developmental delay - of that there was no question - but no doctor, be it in London where Kristin and her husband Jon had been living at the time, or in the United States, where they would move almost two years later, could pinpoint the reason for her disability.
As the years rolled on, the Ericksons found themselves in an odd limbo - they had no diagnosis, no prognosis. Karly wouldn’t eat, wouldn’t move, wouldn’t roll over, wouldn’t crawl; developmental milestone after developmental milestone was either missed completely or achieved much, much later than usual.
And still the tests came up empty and the questions remained.
“They ended up running out of things to test for,” Kristin says. “All we could do was deal with her known issues.”
It wasn’t until Karly was 15, in October 2016, when the Ericksons finally received what they had sought for so long: answers. Using exome sequencing, a state-of-the-art genetic test that isolates the DNA that encodes proteins, geneticists were able pinpoint an anomaly in Karly’s DNA.
The Purine-Rich Element-Binding Protein A (PURA) gene, located on chromosome 5, is active in brain development. For Karly, it was an irregularity in her PURA gene that led to her neurological challenges. As it stands, PURA Syndrome, which was first identified in November 2014, is exceedingly rare, estimated to affect 1 out of 400 children with a developmental disability.
“We have taken an appreciation that she has an identification of PURA Syndrome,” Jon says. “What’s especially nice is to have an affiliation with a group of people.” This group is made up of families of loved ones diagnosed with PURA Syndrome. It is a small enclave now, but as PURA Syndrome is tested for more frequently, the numbers are expected to swell. Currently, there are just over 100 diagnosed cases of PURA Syndrome in the world.
Yet, beyond the complex vernacular of human genetics there is a far more universal language that has governed Karly’s life: high adventure. Those years without a diagnosis prompted the Ericksons to introduce as much stimulation and activity into Karly’s life as they could, from horseback riding to windsurfing. But her true love is, and always has been, skiing.
Since she was three years old, Karly has found her Xanadu on the slopes - from Attitash, NH to Chamonix, France - thanks to adaptive skiing opportunities through organizations like AbilityPLUS. Her hero is her big brother Grant, as accomplished a skier as you’ll find, and an adaptive ski instructor himself.
And since she enrolled at Crotched Mountain School she’s plugged into the Crotched Mountain Accessible Recreation and Sports (CMARS) program. There, she splits her time between cycling (when the weather is warm and the pavement is dry) and, you guessed it, skiing.
During the winter weeks, chances are excellent that you’ll find her atop Crotched Mountain Ski and Ride, cruising down the hills, flanked by CMARS staff and volunteers, all of whom are blasting out monster smiles.
“Nothing makes me crazier than when I hear from people that kids like Karly can’t do things,” Jon says. “She lives an active, exciting, extraordinary life.”
For more information on PURA Syndrome, please visit purasyndrome.org. To learn more about CMARs visit cmf.org/cmars.