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29 December 2010

One child in five million
Girl suffering from a rare disease

Journal de Montréal

The course of Laurie-Ann Duchaine, 8, has nothing to do with the other children in her class. She suffers from a rare disease that affects one child in five million.

This does not prevent the girl of eight years to swimming, horse riding and gymnastics, as several of her friends.

"When you look at it, it does not look sick at all. She has always fought and I fought with it, "says his mother, Marie-Eve Lanthier, met the family home of St. Theresa. Laurie-Ann is suffering from Opsoclonus myoclonus, an autoimmune disease characterized by inflammation including the cerebellum.

However, before the age of one year, Laurie-Ann had never had serious health problems. Three weeks after his first birthday, she began to lose balance.

In the following days, she went into crisis. "His eyes started from all sides, all sides, she was crying, she was trembling. The paramedics had never seen that. "

Marie-Eve Lanthier, a single mother at 19, then spent a very difficult time. "We did not know what my daughter had. I felt that I thought, "she said painfully.

Two broken vertebrae

Once the disease is identified, we began to give him cortisone. Everything is then back to normal until an unforeseen incident occurs.

Under the action of cortisone, the girl began to osteoporosis and two of her vertebrae were crushed on his spinal cord. She became paralyzed lower body overnight. The doctors then suggested that the emergency operator with no guarantee it would work again.

"He was a floating rib graft in the back with metal rods," says his mother. Miraculously, Laurie-Ann began to walk.

Throughout this period the girl was hospitalized, her mother studied. The support staff of the Sainte-Justine Hospital allowed him to pass through. She who was heading the secretariat has shifted to legal medical secretary.

After a second operation which has been grafted some bone from the iliac crest on his back, Laurie-Ann was transferred to the Rehabilitation Centre Marie-Enfant. At the same time, his mother did her internship there.

Since then, Laurie-Ann started school and her mother, she works at Sainte-Justine. "We do not know if it will heal, but now we try plasmapheresis and low-dose chemotherapy. It was never that well. It has a big ray of hope. "

INTERVIEW WITH DR GUY D'ANJOU

Disease Laurie-Ann is very rare, there is talk of a five million?
I've had three since I was in Ste-Justine. I do not think it's one of five million, but it is very rare.

How diagnosed your illness?
We often see the child with a disorder of gait, abnormal eye movements and go in all directions. We also see bursts throughout the body.

What is the origin of the disease?
It's like an immune system dysregulation. The antibodies will attack the nervous system because there is a disruption in the system of antibodies. It's like a hockey player who scored into his own goal. It may appear in the context of influenza where the body produces antibodies. It will often deteriorate in the context of infection. It is also due to neuroblastoma in 50% of cases.

Are there treatments?
As in many autoimmune diseases, there is no clear rule. Steroids (cortisone) by intravenous or by mouth may help. There is also chemotherapy. The goal is to get rid of antibodies or reduce the effect.