Former Paralympian has 'brand new body' with new diagnosis, new treatment

A misdiagnosed former Paralympic champion from Tecumseh, Ont. is going through a remarkable physical transformation — something she never thought possible.

Former champion swimmer Danielle Campo McLeod says she's now able to do things she never has before

Paralympian Danielle Campo McLeod was diagnosed with muscular dystrophy when she was two years old. But she recently found out it was a misdiagnosis, and now she's able to do things she never has before. (Submitted by Danielle Campo McLeod)

When she was two years old, doctors diagnosed Danielle Campo McLeod of Tecumseh, Ont. with muscular dystrophy.

"It was so extreme," she said. "The muscle weakness in my legs made things like walking, jumping, and climbing up stairs difficult. I would fall. I would fall often. I couldn't climb up a flight of stairs without using my arms."

When she was seven, she started swimming lessons and she would go on to become a world-class athlete. She won a total of seven medals representing Canada at the 2000 and 2004 Paralympic Games in Sydney, Australia and Athens, Greece. She also won multiple world championship gold medals and set world records.

When she was seven, Danielle Campo McLeod started swimming lessons and she would go on to become a world-class athlete. (Sanjay Maru/CBC)

But she recently learned she doesn't have muscular dystrophy after all, and it's led to a remarkable physical transformation — something she never thought possible.

"The joke is now I'm breaking things around our house and destroying things because I have strength in my hands I've never had before, so the effort I am used to using ... is causing things to break," Campo McLeod told CBC Windsor Morning's Tony Doucette. 

"The most amazing thing, from a physical standpoint, is I don't have any more fatigue or pain."

Danielle Campo McLeod, her husband Dennis, and their children (l-r) Corbin, Calum, Samson and Ella in their pool. (Submitted by Danielle Campo McLeod)

The big change happened June 24 when Campo McLeod got an unexpected call from her doctor.

"I was standing in our new social distancing world, in line waiting to get into a store, and my phone rang and I answered it," she said.  "And so he said 'what I'm telling you Danielle is I found something that I believe means that you have a rare auto immune disorder. And the next news is really exciting. There's treatment and you can start that treatment in a week.'"

Her new diagnosis is congenital myasthenic syndrome [CMS].

She started taking medication for CMS on July 2 and Campo McLeod says it's like having a "brand new body." She is enjoying living without the pain. 

"It was just the way my body was — it's been like this since I was two years old — I've always had fatigue, I've always had pain, and I just assumed I thought your feet hurt everyday too," she said.

"My pain has been decreasing every day to the point that, you know, like I said I'm busy."

LISTEN | Hear more about Campo McLeod's medical journey:

Campo McLeod and her husband Dennis, who live in Windsor, have been testing just how far her body can go by video recording simple things like how high she can jump, and comparing the before and after videos.

"I can play on the floor with my kids. I can get down onto the floor and play with them," she said.

She and her husband have four children, three boys and a girl, ranging from 15 years old down to 15 months.

"We had my youngest baptized last Saturday and I was walking across the parking lot and my mom said 'I don't even recognize you when you're walking away from me. I don't even recognize [how] you're walking now.'"

We know that people get misdiagnosed. It takes a long time to find the right diagnosis. In my case it was 35 years,- Danielle Campo McLeod, former Paralympic gold medallist 

Although she is unsure what the future may hold and she still has a lot of progress to make, Campo McLeod said the strength she has gained so far is incomparable to what she could ever have imagined for herself. 

"I don't worry that I'm not going to get to see my [children] grow up," she said. "What a thing, to take away the fear."

Hard to find gene mutation

Despite the misdiagnosis, Campo McLeod says she does not blame her "excellent" doctor or the medical professionals she's worked with because of the complexity of muscular dystrophy.

"We know that people get misdiagnosed. It takes a long time to find the right diagnosis. In my case it was 35 years," she said. "I owe this to my doctor because he never gave up."

Dr. Mark Tarnopolsky, research director of the neuromuscular and neurometabolic disease clinic at McMaster University has been working with Campo McLeod for more than a decade. 

Dr. Mark Tarnopolsky, a professor in neuromuscular and neurometabolic diseases and rehabilitation at McMaster University diagnosed Campo McLeod. (McMaster University)

He was the one to determine what she had.

"Many years ago what we would do is a muscle biopsy, and we would use different proteins and take a look. And that allowed us to diagnose probably a dozen different types of muscular dystrophy. And that was 20, 30 years ago," he explained. "But in Danielle's case, and many others, the muscle biopsy just showed nonspecific features."

Gene testing makes it possible for doctors to find out more specifics in relation to muscular dystrophy, but it is a lengthy and expensive process said Tarnopolsky. 

In Campo McLeod's case, there was a specific gene mutation that was very noticeable to her doctor and it is treatable. 

Tarnopolsky said there have been huge improvements when it comes to research to help those with muscular dystrophy.

"For her, this gave us a whole new approach to therapy which gave her quite a dramatic improvement," he said. "This was such a rewarding experience for her and obviously that makes us extremely pleased because our goal is to improve function in these patients."

"I never expected this day in my life," said Campo McLeod. "It's crazy."