Rett Syndrome affects more than 30,000 girls in North America, and Sukhi Suhl’s three-year-old daughter Rayna is one of them.
The neuro-developmental disorder predominately affects girls and causes normal early growth to be slowed down and, in some cases, reversed, leaving patients with no purposeful use of their hands, slowed brain growth, seizures, problems walking and intellectual disability.
For families coping with RS, educational, financial and emotional support are vital, but there is no provincial RS association for parents and children to turn to for help.
Suhl, a Maple Ridge resident, would like to see that changed.
“Ontario has the largest RS association in Canada. It’s shocking that we don’t have one here in B.C.,” the mother of two said. “I’m trying to talk to whoever I can about raising awareness and fundraising. If we can raise enough money to fund the research, I fully believe there is a cure out there.”
This month, Rett Syndrome awareness month, Suhl is attempting to head fundraisers benefitting RS research. She’s ordered two sets of buttons that have messages of hope written on them with lavender ribbons placed in the middle to be distributed for donations. She’s also arranged a bake sale for her five-year-old daughter’s kindergarten class.
“The buttons are for anyone interested in helping us find a cure. Our friends, family, colleagues, classmates and teammates have all pledged to help us but we’d also like the public to know these buttons are for sale,” Suhl said.
When Rayna was six months old, Suhl began noticing changes in her daughter’s behaviour: staring off into space for minutes at a time; not responding to her name being called; and constant trembling of her upper body. Concerned, she took her daughter to the family physician for a regular checkup and the doctor reassured her everything was fine.
“Our doctor at the time didn’t believe me when I would describe all of her symptoms. He said I was comparing her to my oldest daughter and expecting her to have the same milestones. He said every child develops differently.
Her brother encouraged her to take Rayna to the hospital. Doctors ran several neurological tests and determined that Rayna had abnormal brain activity, but it wasn’t until a string of seizures last August that a neurologist suspected she had RS. The confirmation came in February of this year. She is the only documented RS child in the world with her genotype.
Although the disorder limits a patient’s independence, Suhl says her daughter is doing well. Rayna attends private physiotherapy once a week and is able to stand up and walk a few steps, eat using her own hands and even chew her own food, a rarity in the majority of RS cases.
“With the proper physiotherapy and perseverance, the girls are able to overcome some of that regression. We’re not sure what’s going to happen in the future, but Rayna’s already done so much to prove doctor’s wrong,” Suhl said.
“Last December her neurological test results showed a significant improvement of her brain activity and her neurologist was quite pleased by that, so we’re hoping for the same this year. We’re just doing everything we can to stay positive and stay motivated to find a cure.”
• For more information about purchasing buttons in support of RS research call 604-466-3061.