In some ways, Blakelee Mayr is like any other three-year-old kid.
She sits in her mother’s lap in their Morinville home, cooing at her and reaching out to touch her hair – occasionally grabbing hold and pulling, like the parent of any three-year-old has undoubtedly experienced.
But her small stature, struggles with speech and the oxygen tank she uses are evidence to the fact that Blakelee isn’t your typical little girl.
She was born with Cornelia de Lange Syndrome (CdLS), a rare genetic disorder that can have significant effects on physical and intellectual development.
It’s a condition so rare, her mother Kass explained, that they’ve only ever met one other child with CdLS in Canada, and the doctors and specialists in Edmonton have very limited knowledge of the condition.
Fortunately, in 2014 the family was able to raise enough money to go to a biennial conference put on by the CdLS Foundation in the U.S., which had a tremendous impact on their lives.
Not only was the family, including father Mike and siblings Rylee, Harlee and Kingston, able to meet with specialists who focus on CdLS full-time, but they also got to meet other families and share their experiences.
“That, in and of itself, was super helpful because we got to meet kids that were around Blakelee’s age, up to the oldest who was 45 years old,” Kass said.
“We were able to ask them a bunch of questions, and learn from their experience,” Mike added.
In four short days, the family met with doctors, a physiotherapist, an eye specialist, a hearing specialist and a feeding specialist – all of whom focus full-time on issues related to Blakelee’s condition.
It was an eye-opening experience, not just in terms of getting a handle on some of the technical issues surrounding CdLS and the specific gene mutation that causes it, but also to get a firm idea of what kind of milestones they can expect Blakelee to reach and which ones they must accept might be out of reach.
For example, Blakelee may never walk or talk.
“A lot of friends when she was born would say, ‘Don’t listen to the doctors. She’ll walk and she’ll talk, and she’ll do this and she’ll do that.’ Going to the conference, I actually realized that Blakelee will probably never talk,” Kass said. “It’s helpful to know, so we’re not always thinking, ‘She’ll talk one day.’”
But more importantly, it gave them the confidence to speak on her behalf, and the knowledge to be able to tell various health professionals in Alberta that they just might be wrong. As parents, the Mayrs have now spent years researching CdLS and are in some cases more knowledgeable on the condition than some of the professionals working with Blakelee.
“One of the biggest things was just learning to advocate for her, and to not be afraid of that,” Kass said. “A lot of times doctors here will say you should do this or you should do that, but they don’t specialize in it.”
The family had nothing bad to say about their experience in 2014.
“It was good to learn some things, and we got to figure out some stuff about what to expect as she grows up,” Mike said. “It was great for her development, and for us raising her; I thought it had a huge impact.”
Two years later Blakelee, now three, is at a very different stage in her life than when she attended the conference two years ago, and has a very different set of needs. It’s for this reason the Mayrs see it as so important to get to the 2016 conference, being held in Florida.
Unfortunately, it’s not exactly cheap to fly to the U.S. to attend the conference; even with just Blakelee. Kass and her mother are planning to attend this year, but the costs could be upwards of $5,000 when the weak Canadian dollar is factored in.
Kass said the family is so thankful for the support they received to get to the conference in 2014, and hope they can get some support this time around.
“It was touching to see so many people support us,” she said. “We wouldn’t have been able to go if not for that.”
It’s a significant expense for a family of six in which Kass is full-time caregiver to Blakelee, not to mention her brother and two sisters, all under age 10.
So they’re reaching out to the community for support with a chocolate-bar fundraiser and a GoFundMe page.
To support the Mayrs, visit www.gofundme.com/sbebck54, or contact Kass by e-mail at firstname.lastname@example.org.