A child born with health complications can turn a parent’s world upside down. A child born with an extremely rare and little known genetic disorder is a whole new world.
That was the case for Natalie Ladly and her family when Brynn was born. She was their third child, everything was the same until she had a seizure at six weeks old. For the next eight months Brynn was on up to three seizure medicines at a time, but nothing would stop them. It seemed nothing would slow them either.
Eventually, the doctors ordered a genetic panel blood test, nobody expected to find anything.
That’s when Brynn was given a diagnosis: CDKL5. For Ladly, the acronym went from zero significance to a lifelong research project.
She learned CDKL5 is a X chromosome linked genetic disorder that results in early onset, difficult to control seizures, and severe neurodevelopmental impairment. The symptoms are numerous, and a CDLK5 child can exhibit some or all of them, some manifest as the child ages. Most affected by CDLK5 cannot walk, talk or feed themselves. Many suffer scoliosis, visual impairment, sensory issues and gastrointestinal difficulties.
Brynn has been through 10 seizure medications. Her best response is an average of 12 seizures a week. In February, she was seizure free. Then she had ten in one day.
Brynn is in a wheelchair, and cannot talk. She is fed by bottle and sometimes a GI tube because her diet is meticulously calculated. When Brynn’s body is in ketosis, it reduces the seizures. Her nutrition is orchestrated by her doctors at SickKids Hospital and Ladly and her husband have become nutrition scientists, weighing supplements and timing Brynn’s feedings exactly. If she has a seizure, they must set a timer. A seizure that lasts longer than six minutes will require a recovery medicine.
“The seizures are the hardest to deal with, because we have no control. We’re helpless,” said Nadly. “I don’t know if she can hear us, but we talk to her and touch her. She looks terrified and aware.”
Ladly, her husband and her two children have learned the world of loving and caring for someone with CDLK5. Ladly jokes that her other two children, aged 8 and 5 are “hyper-educated” about health. They call their parents when they see their sister seizing, and they fight over who gets to cuddle her first in the mornings.
“It makes you feel isolated,” said Ladly. “Friends empathize but nobody really knows because they don’t see it day-to-day.”
Since Brynn’s diagnosis more than two years ago, Ladly has worked to not only spread more awareness about the disorder, but also to connect other families facing the diagnosis.
“Right now there’s actually a lot of really good research,” said Ladly. “There are only 2,500 cases of CDLK5 in the world, and one of the leading researchers is in Toronto.”
One of the biggest areas of importance is increasing awareness in the medical community to help earlier diagnosis. Often it takes a long time for a genetic panel test, and families go through hell trying to understand what’s happening to their newborn.
Early on, Ladly learned she would be her daughter’s most important health advocate.
“I had to research it because the [doctors] didn’t have time and they don’t have the resources,” she said. She found others online with children facing the same diagnosis as her Brynn. She continues to closely monitor her daughter and she learns all she can about the latest research, including a clinical trial for a new and promising drug. Brynn will be part of the trial soon.
Ladly has become part of CDLK5 Canada and organizes an annual fundraising walk to raise money for research grants. This year’s walk takes place at Bayview Park in Thornbury on October 6. It’s $25 to sign-up for the walk and all participants will receive a tax receipt. The event includes live music by the Dust Jackets, raffle prizes, a barbecue lunch, and face painting. There will also be a guest speaker, Dr. James Eubanks, who is a leading researcher for studies on CDKL5.
The event begins at 11 a.m. For more, visit the CDKL5 Canada website here.
