Corner Brook family finding balance in a life that includes PURA Syndrome
Rolling over, a first word or first steps are all milestones that parents celebrate in their children’s development.
Jennifer Broadbent has another word for those stages of development and that’s “inchstones.”
And when her son Obie Broadbent reaches one, it’s a huge thing for the Corner Brook mom and her husband Mike Broadbent.
Two-year-old Obie has PURA Syndrome, an extremely rare genetic condition that affects everything from his ability to talk to his movement and his cognition.
“It’s a tiny genetic change,” said Jennifer, but it’s one that means Obie is delayed in his development.
As an example, Jennifer said he can’t roll over yet.
“But he is making small progress, sort of in his own time.”
Obie was nine-months-old when he was diagnosed.
“So, it was a long road because we knew right away that something was wrong.”
Obie was born a bit early and, being her second son — her oldest Chase Broadbent-colbourne is nine — she thought he’d probably be a little bit slow to suck and feed, but that it would only take a couple of days for him to come around.
“And he didn’t.”
Obie didn’t suck, didn’t cry, always felt cold and would twitch.
He underwent a lot of tests which kept coming back normal, however, it was noticed that his temperature and oxygen levels were low.
After a while he was sent to the Janeway Children’s Health
and Rehabilitation Centre in St. John’s where they spent a month.
The diagnosis of PURA came after Obie underwent a test that looked at all of his DNA.
It wasn’t something his health providers had considered as it’s a relatively new diagnosis which was only found in 2014.
Obie was the 88th person to be diagnosed with PURA and is the only one in Newfoundland.
As knowledge of the syndrome grew, so did the number of people diagnosed. It’s now at 150 with most people being in the United States or United Kingdom.
Getting the diagnosis was absolutely devastating for the family.
“I think we’re still grieving,” said Jennifer, adding it’s strange to say that about a child that is still alive.
She explains that by talking about how you plan for this baby, are pregnant for nine months and have all kinds of hopes and dreams, going to school and getting married.
“And all of a sudden, in an instant you, realize that’s not going to happen.”
But she still has a child. “And everybody loves him. He’s the purest soul. He’s just the sweetest little guy.”
She said they are definitely being tested, but their patience has grown and their eyes have been opened a lot.
“We don’t want to make him our project.”
There’s still physiotherapy and occupational therapy and many other things to do.
“But at the same time, we just want to lie back and laugh with him and do baby things.”
That involves finding a balance of doing work with him and just letting him be a baby and celebrating those “inchstones.”
It was once thought Obie wouldn’t communicate, but Jennifer said he lets them know what he wants through looks and gestures. And while he’s still not crawling they continue to work on it.
Still it’s hard to think of the future, which is something the event planner in her struggles with.
She’s used to always thinking ahead. “With him I can’t do that.
“I’ve truly been forced to live in the moment.”
That’s not a bad thing though, as she’s fully enjoying all those moments.