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McGill University Health Centre’s (MUHC) Dr. Arnold Kristof specializes in rare lung diseases. Only a handful of people in the world are currently living with a rare lung disease called LAM. One of Dr. Kristof’s patients, Joanne Kussner Leopold, is one of them.

Back when Dr. Kristof was doing his research fellowship, not much was known about Lymphangioleiomyomatosis, or LAM, as it is commonly called. Dr. Kristof says, “I was in a lab and some of the proteins and cells and molecules I was studying, just happened to be involved in what fires up this lung disease called LAM.” Ever since then, Dr. Kristof has been intent on finding ways to eradicate this disease.

“LAM is a disease that’s caused by abnormal cells. They behave kind of like cancer cells, but very, very low grade. The cancer cells get into the lungs, and make these tiny micro-tumors that destroy the lungs. Gradually with time, it causes holes in the lungs. There are only a few thousand patients in North America and Europe that we know of,” Dr. Kristof explains.  

Often, LAM can take years to be diagnosed since it’s rarely the first thing that comes to mind when patients consult their family physician. Also, symptoms of LAM vary among individuals. Some may experience a gradual shortness of breath, breathing difficulties and/or feelings of fatigue.

Joanne Kussner Leopold was out walking with her daughter one day when she realized she was short of breath. Her daughter pointed out that feeling winded on a level street wasn’t normal. “I had gone through periods of being short of breath. But I always attributed it to being out of shape, so I didn’t pursue it,” Joanne explains. 

7 years ago, before heading off on what should have been an enjoyable trip to Las Vegas with her husband, Joanne began to experience back pain. Assuming the pain was muscular, she ignored it and set off on her trip. Not long after their flight, Joanne discovered her back pain was actually due to a collapsed lung. Unfortunately, flying made a pre-existing hole in Joanne’s lung even larger. “I should never have flown. I didn’t check it out because I didn’t attribute it to anything serious,” she recalls.

Joanne was hospitalized and underwent surgery in the United States, where doctors discovered she had LAM. Dr. Joel Moss, from the LAM department of the National Institute of Health (NIH) in Bethesda, Maryland, directed Joanne to Dr. Arnold Kristof in Montreal.

These days, Joanne raves about how wonderful Dr. Kristof is. Relieved that there is a local specialist she can turn to for any questions or concerns, she says, “I came to him seven years ago. At the time, with LAM, there were many unknowns. It’s been very reassuring to have somebody here in Montreal, especially since it is so rare.”

Now, every three to four months Joanne does lung function tests at the MUHC, and when necessary, she uses supplementary oxygen. “I don’t use it all the time, but I’ve gotten used to it,” she says.

Joanne admits that having a rare disease can feel isolating. “LAM doesn’t have the notoriety or the awareness that cancer has, nor does it have the proper funding. People don’t realize what a person goes through when they have LAM. I think we all present very differently on the outside. We’ll have some common denominators, but we all have different elements.”

Despite having LAM, Joanne remains positive. “I just live my life the best way possible. And that’s what I’ve been doing these last seven years.” She wants to encourage others with LAM to do the same.

Although a treatment which slows the progression of LAM exists, unfortunately it’s not effective for all patients and it doesn’t eliminate the disease. Determined to change that, Dr. Kristof is tirelessly seeking solutions to eradicate LAM. And just like Joanne, he too remains hopeful.

Chances are that at every public gathering or family reunion, one person present has a rare disease. Help the MUHC Foundation ensure the needs of those with rare diseases are not forgotten, donate today.

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