'Team Lolo' rallies round little girl with rare genetic disorder

There's a video of their daughter Laurence that David Benay and Mélissa Madore will never, ever delete.

The video was taken when Laurence — Lolo to her parents and big sister Éloïse — was about 10 months old. In it, the chubby-cheeked baby sits in a highchair and, with a little prompting, says the words "mama" and "papa."

"That was the last time," Benay said. "That video was the last time she said those words."

The couple had noticed other oddities in their younger daughter's development — she'd missed important milestones such as rolling over, standing and pointing, and she was having difficulty holding her head up when she crawled.

"She wasn't even able to sit without putting her hand down, which was kind of strange to us," Madore recalled.

Not long after the video was taken, Laurence went for her 12-month checkup and her parents flagged their concerns to the doctor.

They were referred to a pediatrician who eventually ordered two rounds of genetic testing to nail down a diagnosis. That would take many more months.

"It was actually a very stressful period for us," said Madore, who spent hours researching all the possibilities, including autism. "I wasn't sure what it was, but I just knew something wasn't right."

On Sept. 1, 2021, a couple weeks after her second birthday, Laurence was officially diagnosed with Rett syndrome, a rare genetic neurological and developmental disorder that affects about one in every 10,000 children, nearly always girls.

Madore had researched that possibility, too.

"When I looked over to Mel, instantly she was already crying because she knew what that was and what it meant," Benay said. 

That is so hard as a parent, to see your child lose skills.- Melissa Madore

All childhood diseases are cruel, but Rett syndrome is especially insidious because it robs its young victims of the speech and motor skills they've just developed. One day they can walk, talk and flip pages in a book, then suddenly they can't.

"I knew that Laurence's future was not going to be an easy one," Madore said through tears. "I knew that we would see more regression, and I think that's what I was the most scared of. We had already lived [through] some regression, and that is so hard as a parent, to see your child lose skills."

'It's really devastating'

According to Dr. Melissa Carter, medical director of the Rett syndrome clinic at CHEO, eastern Ontario's children's hospital in Ottawa, most children with the disorder will regress between the ages of about 18 months and three years, then plateau until late adolescence or early adulthood.

Even after the regressive stage, many children with Rett syndrome will suffer seizures, have difficulty breathing and develop scoliosis. Many will eventually need a wheelchair, and while there's little scientific agreement on life expectancy, parents often outlive their children.

"It's really devastating," Carter said of the challenges that come later. "You think you've gotten over the initial hurdles … and then this happens, so it's really hard to deal with."

Carter said the Rett syndrome clinic at CHEO deals with about 50 patients at any one time.

Early intervention 'huge'

Now that they've finally put a name to the disorder afflicting their daughter, Benay and Madore are determined to do everything they can to help Laurence develop as normally as possible, including acquiring a new "Crocodile" walker so she can get around by herself.

"Early intervention is huge," Benay said. "We're just fighting for her not to lose more skills."

While the couple says the quality of care from CHEO has been "unbelievable," Laurence is currently on wait lists for speech and occupational therapy, as well as an on-site daycare where that therapy is provided. The COVID-19 pandemic hasn't exactly helped speed things along.

For now Benay and Madore, both teachers with eastern Ontario's French public school board in Orléans, where the family also lives, cover many of those expenses themselves.

Even with OHIP and their own employee insurance, the family has so far spent about $20,000 on Laurence's care, not including the purchase of a second vehicle to get her to and from all those appointments.

"As soon as we get access to all these therapies, I think it's going to be easier on us," Benay said.

'Her fight is our fight'

In the meantime, the family has been receiving lots of kind support from the community. The family of another "Rett girl" living in Orléans has offered practical guidance, as has the Ontario Rett Syndrome Association. A local sports shop donated "Team Lolo" T-shirts, while another business provided purple silicone wristbands with the slogan, "Her fight is our fight."

A local artist created special wish bracelets for the family, and a photographer friend offered free portraits, all on display on the Team Lolo Facebook page.

"The support of the community has been incredible," Madore said.

Even with that help, it will be a mighty struggle on multiple fronts. Both parents have sought therapy to help them deal with the unimaginable strain of their new reality. 

"I say we've made our peace, but sometimes it just gets us," said Benay.

If he's learned anything from the experience, it's to never take life's little moments for granted, he said.

"If I could take back any other time that I went to the park and I was on my cellphone instead of looking at my kids play, I would," he said. "Laurence won't be able to do that."