A family shares the challenging and heartbreaking journey of learning their son has a rare disease.
Tammy was feeding her five-week-old baby, Jasper, as he sat silently in her arms. When she looked down adoringly at her young boy, shock took over her. Jasper’s skin had turned blue.
Paramedics rushed Jasper to Children’s Hospital, London Health Sciences Centre where they performed CT scans, blood tests and many EEGs. All his results came back normal. But it was clear – something was very wrong.
Jasper was constantly tired, barely eating and had trouble breathing on his own. For months, he was in and out of the hospital receiving care and undergoing tests. He began using a G-tube to help him eat and the proper equipment to ease his breathing.
Doctors performed genetic tests on Jasper and explained them to his family by using a book analogy. The first genetic test was to see if all the books are in the library. The WES test checked if the books had all their pages.
“Jasper was only about one-year-old at the time and had at least 20 to 30 tests. Everything kept coming back fine,” Tammy recalls.
Jasper’s loving family was longing for answers, hoping the diagnosis would be something trivial. After several months of wondering and lots of tests, his parents received answers.
PURA syndrome. A rare, genetic disorder.
Jasper is one of about 300 people in the world with PURA. The genetic disorder causes low muscle tone, feeding difficulties, breathing problems, developmental delay and learning disabilities. PURA syndrome occurs when one of the two copies of the PURA gene does not function normally. Using the doctor’s analogy, Jasper has all his books in the library, but one of his books has missing pages.
After receiving therapy at Children’s Hospital for a year, Jasper is now eating orally without a G-tube. He has a check-up every six months and hasn’t shown any signs of seizures or regression for nearly a year.
The support that caring donors bring to lives, like Jasper’s, is invaluable. Jasper is 1 of 8 Canadians who suffer from PURA syndrome, and with donor generosity, Jasper has the right care and equipment he needs to face this rare disease.
Tammy knows how fortunate her family is to have access to the incredible care at Children’s Hospital and Thames Valley Children’s Centre. “We lived in Sudbury for three years. If we were there, he may not have made it because they don’t have the same resources.”
February 28 marks Rare Disease Day.
This day raises awareness for the kids like Jasper who live with a rare disease.
