Snowflake disease: A Montrealer talks about her rare disease

A Lebanese-born Montreal resident with a rare disease feels lucky to be receiving treatment in Quebec and wants to give a voice to those affected.

“Being here saved my life. Where I am, you can't even go to the hospital without paying. (…) I don't know if I can be operated on in Lebanon,” says Christel El-Koussa. A 28-year-old woman has myasthenia gravis, an extremely rare neuromuscular disease nicknamed “snowflake disease” because the symptoms vary from person to person.

In August 2022, a year and a half after arriving in Quebec, Mⁱ El-Koussa began experiencing troubling symptoms: constant fatigue, difficulty swallowing, lack of balance, drooping eyelids.

“Once I even fell in front of a bus in the middle of the street. (…) “Because I didn't have a family doctor, I was consulted several times by clinics and emergency departments,” said a young woman who was 26 years old at the time.

In December 2022, he was referred to the Montreal Neurological Institute-Hospital, where he was diagnosed with myasthenia gravis. This autoimmune disease disrupts the “nerve-muscle connection,” which weakens the muscles of the person with it.

If he trusts NewspaperTo raise awareness about this disease today and give them a little hope.

“I want people to know that you can live a normal life even if you're young or have a chronic illness,” she explains.

Rarely

Only one in 100,000 Canadians has the disease, and patients under the age of 30 are extremely rare, explains Jeanne Teitelbaum, director of the neurointensive care program at the Montreal Neurological Institute-Hospital.

“I've been in practice since 1982 and in my career I've seen very few young patients like him. I can count them on one hand, the only person I have treated, he also has cancer,” explains the doctor.

In addition to being a special case, Mⁱ El-Koussa was one of the 10% of people with snowflake disease who develop thymoma, a cancer located in the upper part of the chest.

“I was shocked because I've always been a fit person (…), but I considered myself lucky to be in Quebec to go through all the procedures. “Before the health check I asked if I had to pay anything out of pocket and when he said it was covered I was able to relax and focus on my health,” he added.

After three weeks in the hospital, the young woman was finally able to undergo surgery. Although everything went as expected, the rehabilitation was very difficult and the young woman even used the services of a speech therapist to learn how to eat and swallow because of the damage to her tongue muscles.

Remission

A little more than a year after the operation, the director returned to work, but he continues to work at the Montreal Neurological Institute-Hospital. He is still on medication and seeing a physical therapist to help with his movement.

“I know that I will always live with this disease, there are good days, there will be few good days, I try to be positive,” says the artist.

Symptoms of myasthenia gravis

• Swallowing problem
• Speech disorder
• Imbalance
• Double vision or vision loss
• Fatigue
• Weakness in the body

Myasthenia gravis affects approximately one in 100,000 Canadians. Of this number, 10% of patients develop a breast tumor called a thymoma.

This disease is called “snowflake disease” because its symptoms vary from person to person.

People with the disease usually develop several symptoms.

There is no cure for snowflake disease; it is a chronic disease that requires constant medication.