The first clinic in Canada dedicated to a genetic disorder that causes growths to form throughout the body's organs is offering relief and new hope for children with the condition.

Tuberous sclerosis (TS) causes growths on the skin, kidneys, heart, lungs and brain. It nearly always results in epilepsy and often results in autism or other neurological problems. TS occurs in about one in 6,000 births worldwide.

'Everything in this disease is a topic all by itself. But each doctor can only tell you what to expect in [his or her] field of expertise.'— Rima H.

Rima H's daughter, Mariam, was diagnosed with a severe form of tuberous sclerosis shortly after she was born nine years ago. Rima, who did not want her surname used, had never heard of TS. But now she’s an expert, navigating the labyrinthine corridors of Montreal's Ste. Justine Hospital as if it were her second home.

"I don't know how many departments I see here," she said, listing them off with her fingers. "Nephrology, cardiology, neurosurgery, neurology.… Something is always coming up."

Mariam is one of 40 children that pediatric neurologist Dr. Philippe Major is following at his clinic. He opened it in 2008, after returning to Montreal from a fellowship at Boston's Massachusetts General Hospital, one of the most renowned centres for TS treatment in the world.

"I realized there was no comprehensive clinic for tuberous sclerosis in Canada," Major said. "Patients and their families were often left to manage on their own."

When Mariam was diagnosed, Rima found herself running from specialist to specialist, trying to understand her daughter's disease. But no one could answer all of her questions.

"I was told, 'There will be seizures,'" Rima recalled. "I wanted to know — what kind of seizures? What are their symptoms? Everything in this disease is a topic all by itself. But each doctor can only tell you what to expect in [his or her] field of expertise."

An MRI image of the brain shows tubers and tumours in white. (Courtesy Ste. Justine Hospital)

In Mariam’s case, the seizures were infrequent. Major said the tumours growing in her brain were like a ticking time bomb: at some point, the tumours were bound to block the drainage of fluid — necessitating emergency surgery that could leave her blind, paralyzed or comatose.

Last October, Major decided to prescribe for Mariam a mild immunosuppressant drug called Rapamune, usually taken by people who have had a kidney transplant. Studies on mice had shown it could shrink tumours.

She is only the fourth TS patient in Canada to try the drug and so far, it is working. In just three months, her tumours have shrunk by a third. The only side-effect so far is a slightly suppressed immune system.

Rima said she is already noticing behavioural changes in her daughter, who is more focused and able to concentrate on her school work.

Toddler more playful

Sometimes, surgery is an option for tuberous sclerosis tumours.

Last fall, Major proposed operating on a two-year-old girl from Granby, Que., who had endured dozens of epileptic seizures a day from the time she was four months old.

Neurosurgeons were hesitant, but Major was nearly certain the seizures were emanating from a single part of her brain.

To pinpoint it precisely, the toddler had to undergo a craniotomy — a piece of her skull was removed and more than 100 tiny electrodes were inserted, some on the brain's surface, others deep inside.

For a week, Major camped out with the baby and her parents in their hospital room, monitoring her brain activity round the clock.

"It is quite the journey, to do this kind of investigation on such a young child," Major said. "She had to be sitting in her bed with the electrodes in her brain, and we videotaped her all the time. She had to be very quiet. She was very good. She tolerated the procedure very, very well."

In November, the toddler underwent a 13-hour operation to remove a piece of the brain's insula and right frontal lobe — the size of a kiwi fruit, her father said.

Except for one tiny seizure shortly after the surgery, she is now epilepsy-free. Her father said she is catching up developmentally with other children her age, after having lagged nearly a year behind.

"She is so much more playful, so much more interested in everything," said her father, Jean-François Chagnon.Dr. Philippe Major is fielding queries from across Canada about the comprehensive clinic he started. (Courtesy Ste. Justine Hospital)

She's now "giving her parents a hard time, like a normal child."

Major's comprehensive TS clinic offers other kinds of support, such as neuropsychological evaluation to help design the right kind of educational supports to compensate for any intellectual and psychological deficits. Children are also offered occupational therapy and physiotherapy. And the clinic provides genetic counselling, since anyone with the condition has a one in two chance of passing it on. If the test is positive, the counselling can help parents to decide whether to continue with the pregnancy or not.

Since Mariam's birth, her mother Rima has had two healthy daughters. Her dream now is for a breakthrough in genetic research, by the time Mariam is grown up.

Major is now fielding queries from across Canada about the clinic and patients are coming from neighbouring provinces for treatment.

Two pediatric hospitals, Sick Kids in Toronto and the Vancouver Children's Hospital, are planning to set up comprehensive clinics like Major's in the near future.