Right around the due date of her first child, Mary Detweiler felt a regular fluttering sensation coming from the baby. Her obstetrician dismissed it as hiccups and the nerves of a first-time mother, but Detweiler knew it was more than that.
A week later, when the fluttering hadn’t stopped, he sent her to Guelph General Hospital for a stress test. The ultrasound showed a cyst the size of a small lemon on the right side of her daughter’s brain.
Detweiler was rushed to McMaster Children’s Hospital in Hamilton, where baby Julianna was delivered via C-section, to avoid putting more pressure on her brain. More tests, this time at The Hospital for Sick Children in Toronto, revealed Julianna had Aicardi syndrome.
Aicardi is a rare genetic disorder that affects perhaps 1,000 people around the world. The syndrome is thought to result from a defect on the X chromosome; it appears only in girls or, in very rare cases, boys with two X chromosomes and a Y.
Most girls appear to be normal at birth, and Aicardi is only diagnosed when seizures start around three months old. In Julianna’s case, the seizures started in utero: that was the regular fluttering that Mary felt.
“Our whole world crumbled,” Mary said of the diagnosis. “We thought we had a healthy pregnancy, other than this fluttering. We blamed ourselves; we thought we must have done something wrong.”
Julianna was born without a corpus collosum, the bridge that connects the two hemispheres of the brain and allows them to communicate. She also has lesions called lacunae in her retinas, which mean she sees the world like a jigsaw puzzle with pieces missing. And she has seizures every day – not grand mal seizures where the patient loses consciousness and convulses, but different types of small seizures. Mary and her husband Harold have learned which types are minor and which have to be headed off with medication before she chokes.
Almost all children with Aicardi have developmental delays ranging from moderate to severe.
Because the syndrome is so rare, there is very little research being done into the whys and hows of it. Baylor University in Texas is trying to map the part of the chromosome affected, and there is evidence that the mutation occurs within a few days of conception, and isn’t caused by something during the pregnancy.
Julianna had five surgeries before she was a year old, before doctors managed to remove the cyst on the right side of her brain. She is partly paralyzed on her left side as a result.
The Julianna of today is not the Julianna her parents brought home from the hospital. As a newborn, she was withdrawn and unresponsive, partly as a result of the medications used to stop the seizures.
In 2004, when she was three, they had what Mary dubbed a mini-miracle. Julianna was in the hospital for pneumonia, and the pneumonia meds stopped her seizures. When she was back home and the medication ran out, she was more alert than ever and even laughed for the first time.
“I had to go to Vancouver for three days with work,” Mary said, “and when I came back she was looking around and smiling and she laughed. That’s how she’s been ever since.”
Mary tears up remembering a trip to the mall when Julianna started giggling because she was tipping the stroller back.
“We ran to a public phone and called her grandma and said ‘listen’ and we put the phone down because she was laughing. We were crying and I’m sure people were wondering ‘what’s wrong with those people?’”
Now eight years old, Julianna goes to school at St. Mary’s in Elora, where an educational assistant works with her. A Red Cross worker comes six hours a week to help with housework and bathing and feeding Julianna. The Detweilers also have a personal support worker, Sara, who takes Julianna on outings and allows them to get housework done or spend time with their other two children, Jessica and Devin.
“She loves Julianna like she was her own child,” Mary said. “I don’t know what our life would be like the past two and a half years without her.”
The Detweilers try to balance meeting Julianna’s needs with keeping home life as normal as possible so the other kids don’t start to resent her. That is getting more difficult as Julianna gets bigger and it gets harder for them to lift her from her wheelchair to the family van.
“Sometimes we just end up staying home,” Mary said.
The need for a lift for their van is becoming more urgent as winter approaches. To get Julianna into a seat, Mary has to pick her up and take a step up into the van, something she is dreading doing in ice and snow.
“If I hurt myself, what are we going to do? If I hurt my back or if Harold hurts his back and can’t work, we’re in an even worse situation.”
They’ve priced out lifts and the quotes have come back between $6,200 and $6,400, which is out of their budget.
It’s the same for everything with the disabled, Mary said; a pair of simple plastic molds that keep Julianna from pointing her feet cost $1,400. The Ontario government covered 75 per cent of the cost, and Harold’s benefits – he works for Toyota Boshoku in Elmira – covered the other 25 per cent.
But they haven’t been able to find any agency that will help them with funding for the lift. It’s too expensive; the agencies have income thresholds; her syndrome isn’t covered; vehicle lifts aren’t covered; their van is too old; the agencies’ mailboxes are full or numbers are out of service.
Mary said she’ll continue making calls and sending letters, but she’s also set up a trust fund at the Royal Bank. They already have a deposit of $1,500 to ‘Lift Up Julianna.’
“If anyone is in the position of giving us a hand in purchasing a lift, that would be wonderful,” Mary said.