Two ambulances. Two fire trucks. Two police cruisers. Emergency responders didn’t hesitate when five-week-old Jasper turned blue.
At Children’s Hospital, the emergency medical team intubated Jasper, but he still struggled. A CT scan followed, and then an MRI, and then electroencephalocardiograms (EEGs) and blood work — all of which came back normal. Every test showed Jasper was fine, but he was clearly not.
Jasper was admitted to Children’s Hospital and a long, frustrating journey began for Jasper and his parents, Tammy and Mike.
“After two weeks, they sent us home,” Tammy says. “Within 48 hours we were back because he started turning blue again, but it was like the slow process of turning blue. And then he would come back on his own. So we drove him back to emerge, started the whole process again.”
For months, Jasper underwent test after test in search of answers — chromosome tests, EEGs, EKGs, echo tests, lumbar punctures, another CT scan, another MRI, a 24-hour EEG, a 48-hour EEG, and so on. The medical team was stumped.
“As a parent you’re obviously in denial, right. You’re like, ‘Well, no. He’s fine. It’s just going to end up being something silly,’” Tammy says.
Finally, an Ear, Nose and Throat specialist and a respirologist determined that Jasper had E. coli in his lungs. “So, when he went in the very first time, he had refluxed and aspirated. So, they said he pretty much had the worst reflux they had ever seen to the point that nurses upstairs were walking around and showing the pictures to other nurses and other doctors,” Tammy says.
Some strong antacid and a feeding tube helped clear up Jasper’s symptoms, but they still didn’t have a diagnosis. For that, Jasper took a Whole Exome Sequencing test, which took months to complete. The test showed an extremely rare genetic disorder: PURA syndrome. Jasper is one of only five PURA cases in Ontario; one of about 300 worldwide.
Even the diagnosis didn’t bring much relief to Tammy and Mike. “It was so rare that the doctor printed off the information from the foundation website to tell us about it because that’s all she knew,” Tammy says.
“The way she explained it to me, which is awesome, is the first genetic test is to see if all your books are in the library,” Tammy explains. “So, his library has all his books. The WES testing goes in and tests if all your books have all the pages. So, for him, one of his books is missing some pages, which I think was a great analogy to explain it.”
How PURA manifests varies from child to child, but the condition often causes seizures, difficulties with moving, breathing and feeding, and many children born with PURA never speak or walk on their own.
As he has grown, Jasper has found support at TVCC. Even before he could crawl on his own, he was going to gymnastics classes and spending time in the pool. With the help of TVCC’s specialized care, Jasper has gradually built up both his physical strength and his social skills, coming out of the shell that hospital isolation put on him. He loves music, the family pets, and his older sister is “his favourite thing ever,” Tammy says.
TVCC has provided an important source of community for Jasper’s family, too. “For my husband, it’s been great because he’s been exposed to other families, he’s been able to talk to other people,” Tammy says, adding that their daughter has gotten involved and met other families as well.
“We really are fortunate,” Tammy says. “I don’t think as parents we realize how fortunate we are to have [TVCC]. I’ve talked to some of the moms in Toronto who say they’re trying to find activities for the kids to do, I’ll tell them Jasper does swim and music group, and they reply that they don’t have any of that — and that’s just Toronto.”
Despite all the mysteries they’ve already been through, the future remains quite foggy for Jasper and his family. With such a rare condition that shows up in such different ways, little is known about how old Jasper will get, or what that will look like for him. For now, the family is surrounding him with love and positivity and building up a wonderful community around Jasper.
This holiday season, you can support more families like Jasper’s with a gift, and have it help even more than you know. Thanks to the Charabin Family Match of up to $50,000, a gift of $50 becomes $100, and a gift of $100 becomes $200. Think about how many lives would be changed as a result. Hope lives at Children’s because of you.
