YORK COUNTY, Pa. — After their daughter was diagnosed with a rare disease at birth, a York County family is celebrating her journey through treatment and it’s all thanks to a new medical breakthrough out of Baltimore.
Quinnlyn Walters lives with her parents and two foster siblings in a quiet neighborhood in Manchester Township. She could be described as your typical 8-year-old girl.
She plays softball, enjoys horseback riding, likes Star Wars, and does karate.
“I like to swim, skate, read, I like to go to the park,” Quinnlyn said.
When you look at Quinnlyn, there’s something different about her. When she was born, doctors immediately noticed her distinct birthmark.
“The doctor came in and was like ‘Hold up, this is not bruising, this a port-wine stain,’ and you guys are going to need to see a lot of specialists and you need to look for anything weird and funny,” said Chrissy Walters, Quinnlyn’s mother.
After multiple tests and meetings with medical specialists, Quinnlyn was diagnosed with Sturge-Weber Syndrome.
It’s a rare disease estimated to affect 1 in 50,000 infants and is described as a neurovascular disorder that can cause abnormal vessels in the brain and possible seizures.
There is no cure but isn’t untreatable.
“Based on what Dr. Comi and our local neurological team had come to us with, that starting presymptomatic was going to give us, not a guarantee, not a cure, just this greater probability that we would be delaying the onset of seizures, of stroke-like episodes,” said Doug Walters, Quinnlyn’s father.
At three months old, Quinnlyn began treatment involving a combination of anti-seizure medication and low-dose aspirin.
The treatment was part of a research study conducted by the Kennedy Krieger Institute and Boston Children’s Hospital, funded by the National Institute of Health.
The results of the study were published earlier this year and revealed young patients who were treated pre symptomatically were less likely to experience seizures before turning two years old.
Dr. Anne Comi, the director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger remarked, “In our study group, we reduced the percentage of patients diagnosed with early seizures from 88% to 53% and improved outcome at two years. This treatment shows that treating infants before they start showing major symptoms improves their quality of life.”
Walters describes the results as astounding.
“After that, I was able to take a deep breath, relax, and just enjoy her being a child and letting her do these things that everybody wants to do,” Chrissy said.
Quinnlyn has become an inspiration for other families affected by the disease.
“We went to a purple polka dot race and there was a 5k and a family fun run, the 5k was for running and racing and stuff,” Quinnlyn said.
The Walters now emphasize to other families affected the importance of treating Sturge-Weber presymptomatically.
“If we can give them that information sooner that this new pathway has been legitimized and that a low-dose aspirin and an anti-convulsant can hopefully get you through that year, that two years, and delay the onset of seizures, that’s what they need to know,” Doug said.
Quinnlyn is expected to continue her treatment into the foreseeable future but is excited to start the next phase of her life.
“I want to be a vet,” Quinnlyn said.