This week, we're profiling five very special Maritime families who have children with rare genetic disorders. Read more about the series by Lifestyles editor Jen Taplin here
With her face pressed to the glass door of their Halifax-area home, two-year-old Madelyn Gardiner wears a big, bright grin in anticipation of a visitor walking up the steps. She’s giggling.
Her fingers are fused together (her two big sisters call them her “mittens”). Her skull is abnormally shaped and her brow looks pushed in between her eyes.
She has a short mop top growing back in after being shaved for surgery. When it’s long again, it will touch her shoulders in golden ringlets.
While her parents Jessica and Barry talk about the enormous surprise they received on the day she was born, Madelyn is having a tea party on the floor with her sisters Meika, 8 and Marlee, 4.
There was no indication of anything unusual before Madelyn was born on May 18, 2017.
“We were in total shock,” says Barry. “I noticed her head was abnormally large and I thought ‘OK, some kids are born with large heads.’ I saw her hands and it was panic mode.”
Diagnosis and hope
A nurse suggested their baby had Apert syndrome and before the umbilical cord was cut, Barry was Googling the rare genetic disorder.
“We were like zombies for the first week,” Jessica says. “I don’t even think I cried for the first two days because I turned off all my emotions because I didn’t think she was going to live. Twelve days she was in the ICU.”
Apert syndrome was later confirmed and the Gardiners went to work. They researched and connected via Facebook with families of children with Apert syndrome, and other rare genetic disorders. Through an online community, they met Mary, a woman in her 50s, who is one of three people (that they know of) with Apert syndrome in Atlantic Canada.
Meeting Mary in person at Madelyn’s birthday party last year gave the family hope for what’s to come.
Madelyn will need about 40 corrective surgeries, plus a lot of dental work, in her lifetime.
At two years old, she’s already had two surgeries on her skull to make sure her brain has room to grow. Leaving his baby on the operating table was horrible for Barry.
“Being a father I got to experience that with her, taking her into surgery because her mother wouldn’t be able to do it. Laying her down on a surgical bed while they put her to sleep, and leaving without her was so hard. So hard. I was a mess,” he says. “But the thing is you’ve got to stay strong for her.”
'She's so tough'
After her first surgery, there were two screws left in her skull. Every morning, Barry needed to tighten them, which opened her skull slowly. Madelyn didn’t really mind it until close to the end, says Jessica, and only because it got infected.
“She’s so tough. I think she has a high pain tolerance,” Jessica says.
Madelyn was scheduled for a surgery to release some of her fingers in early March, but it was put off because Madelyn came down with a cold.
But that’s OK since her parents are a little reluctant to change her hands. At her birth, the sight of Madelyn’s hands were a shock, but now they’re a characteristic of the girl they love so much.
“We fell in love with them, we love to kiss them,” Jessica says, adding they did a impression of Madelyn’s hands so they will always be able to see what they were like.
Barry says they don’t see her as anything other than a blessing.
“She’s a gift and I feel sad for people who don’t have a special child,” he says.
Jessica adds: “Every milestone is so much more rewarding. There have been some downs, but it’s mostly ups, for sure.”
I. Love.
Madelyn works regularly with a speech pathologist and has about 15 words. Three of those words are I, love and dada.
While they see nothing but beauty, the outside world is crueler. The family is getting used to staring and reactions from other kids. Not long ago, Jessica nervously took Madelyn to an ice cream social at her big sister’s pre-school.
“A lot of the kids were running away from her and they didn’t want to play near her. I tried to keep strong but as soon as I got in my car, I just broke down and bawled my eyes out. I just couldn’t stop.”
Thinking ahead to Madelyn’s school years, Barry has already given a lot of thought about bullying.
“I’ve got a doberman pinscher, and I have a motorbike I’ll be taking her to school on,” says Barry in a way that’s joking, but then again, maybe not.
Barry said he has plans for talking to her classmates when Madelyn starts school.
They’re also preparing for the day Madelyn asks: Why me?
“I do want her to ask the question why me? I look forward to that question but I also dread it, but I hope she has the ability to ask,” Barry says.
They don’t know how they’re going to answer and they’re not religious, Barry says.
“I believe in nature, and nature chose her.”
He says a doctor once told them the odds of her being born are like winning the lottery.
“So I refer to her as our lottery sweepstakes,” he says.
