Rare Disease Day: Meet 3-year-old Greyson, One of Many Patients Treated at Cook Children's for a Rare Disease

Today is Rare Disease Day and we’re sharing the story of one of our patients, 3-year-old Greyson, who was diagnosed with PURA Syndrome when he was 2 years old. Only about 500 people in the world share the same diagnosis.

Greyson’s diagnostic odyssey began just five days after he was born when his pediatrician sent him to the Cook Children’s Emergency Department.

“We were admitted into the NICU, where Greyson spent the next six weeks,” said Sarah Pathipphanith, Greyson’s mother. “There we discovered he had a host of problems including low muscle tone, apnea and dysphagia. We met many of our current doctors during that stay.”

Every rare disease has unique characteristics, but they sometimes share similar symptoms. This is where genetic testing comes in handy.

“PURA Syndrome can be characterized as a neurodevelopmental condition where individuals who are affected typically have global developmental delays, intellectual disabilities and difficulties with expressive language,” said Candace Gamble, M.D., medical director of the Cook Children’s Genetics Center. “The hard part in the beginning is that these symptoms are present with many other genetic conditions, so we used a type of genetic testing called whole exome sequencing to identify genetic variations and rule out other diagnoses to discover the super rare.”

Once the genetics team uncovered Greyson’s diagnosis, they guided his family through the results and connected them with other families in the community who have children with similar diagnoses. Now, he regularly sees a variety of Cook Children’s specialists: genetics, neurology, pulmonology, orthopedics and the Child Study Center.

“We felt very relieved to have answers and a framework for Greyson’s future treatments,” Pathipphanith said.

Despite his diagnosis, Greyson knows happiness and humor. His mother says he lights up every room with his sweet smile, big eyes and contagious chuckle.

“He loves to clap and play instruments when listening to music,” Pathipphanith said. “He likes to go on walks with his gait trainer and is very determined to explore his world!”

Dr. Gamble says Greyson will write the story of what PURA syndrome means for him.

“We’ll adjust to his needs,” Dr. Gamble said. “What makes us unique at Cook Children’s is that we serve as an advocate as we follow each patient along their health care journey. We can’t cure their genetic condition, but we work to make their lives better.”