A race against the clock – Rare familial ALS gene triggers uncertain future
Karen Lawrence underwent genetic testing that revealed she carries a gene that causes ALS – a disease which took 14 members of her family. She fears, not only for the day she may develop the disease, but that she has passed on this gene to her three sons.
A race against the clock
Karen Lawrence is no stranger to helping those in need. After all, she’s a Clinical Manager of Oncology at The Ottawa Hospital. Her position, largely characterized as providing specialized treatment and care to some of the hospital’s most ailing, has taught her the value of advocating for those in need and raising money for critical research.
Now, sitting with the knowledge that her own body will soon start to deteriorate, she reflects on her life – and the future of her three boys.
An uncertain future
On January 27, 2014, Karen received the results of a genetic test, confirming one of her biggest fears. She is a carrier of a gene that causes amyotrophic lateral sclerosis (ALS) – a rare disease that gradually paralyses people because their motor neurons, which send signals from the brain to the muscles, break down and die.
As she sits staring at an oversized clock mounted on her living room wall, it seems to take on more significance – each second that passes moves Karen toward her inevitable fate. Like so many family members before her, Karen will too develop the disease. It’s just a matter of time.
“My family has been stricken with the familial form of ALS,” she explains with a pained expression. “I have lost 14 members of my family to this devastating disease, including my father.”
Watching ALS render her father helpless, while keeping his mind intact, was a cruel reminder that today there is no fighting this disease. “There is little hope yet. Today, there is only pain and suffering. Facing an uncertain future, a cure can’t come soon enough,” says Karen.
No one in Karen’s family realized it at the time. Several members of her extended family were diagnosed with ALS and passed before they connected the dots. It was only once her grandfather, uncle and father were diagnosed that the family started to talk about the fact that it was likely genetic. The women in her family, her aunt and cousins, were diagnosed in their 40’s. The men were diagnosed when they were a little older, but under the age of 60. Once diagnosed, most only survived 12-18 months.
With a 50/50 chance of having the gene, it was never far from Karen’s mind. “It’s like walking around with a target on your back. You’re just kind of waiting,” she said. And she was tired of it – the waiting. That’s when she got tested.
“It’s like walking around with a target on your back.” – Karen Lawrence
“When they told me I had the gene, I was very composed and held it together until I thought of my kids and then I started to cry. That’s when it really hit me. I potentially gave a terminal illness to my children. So that’s very difficult to live with.”
The race is on
When Karen found out that she had the gene, something as simple as dropping a pen, or a small stumble, would have her mind racing to the future.
Karen is aware that it’s just a matter of time before her brain will no longer be able to talk to her muscles. Eventually, she’ll have trouble with her balance, then she won’t be able to walk, then talk and then eat. But her mind will be intact, trapped within her body, while she waits for ALS to take her ability to breathe. Karen has a pretty clear idea of what this will look and feel like, having watched her father go through it just a few years ago.
So, how does she grapple with the thought of such a grim future? She runs – literally. And she raises a substantial amount of money in support of neuromuscular research and care while she’s at it.
Her first ever marathon was in Copenhagen and her second in New York City. More recently, she has participated in The Ottawa Hospital’s Run for a Reason, where alongside her team, she raised funds towards a brand-new Neuromuscular Centre right here in Ottawa.
“The race is on to fund research to find a cure, or to prevent onset before my three beautiful boys are faced with the same agonizing decision of whether to get tested.” – Karen Lawrence
A new Neuromuscular Centre
Thousands of people in eastern Ontario are affected by neuromuscular diseases. Until recently, patients had to travel to Montreal or Toronto to participate in clinical trials to help further research in these diseases. However, Dr. Jodi Warman Chardon noted that The Ottawa Hospital had more than 50 researchers and clinicians working on behalf of people like Karen. Each is working on various aspects of neuromuscular disease – from clinical care to lab research. There was no reason why the most promising clinical trials couldn’t be offered here in Ottawa.
Dr. Warman teamed up with Senior Scientist Dr. Robin Parks, who is conducting lab-based research on neuromuscular diseases. Their dream to have a centre that would bring these experts together in one place caught traction, and in May 2018, The Ottawa Hospital Neuromuscular Centre opened its doors to patients. “What’s exciting is it’s more than just a clinic. It’s a clinical research centre,” said Dr. Robin Parks. “So the idea is to do research and get results that will then feed back to the patient to provide insight into new therapies for them.”
Today, Ottawa is at the global epicenter of neuromuscular research. Equipped with the strongest neuroscience research team in the world, we are well positioned to discover new treatment options and cures, which will change patient outcomes worldwide.
“When a cure is found for this disease [ALS], the chances are it will be found in Ottawa,” said Duncan Stewart, Executive Vice President, Research, The Ottawa Hospital.
Zest for life
Karen does not yet have ALS, so she is not undergoing any treatment. But she remains hopeful that when she develops the disease, she will participate in the Neuromuscular Centre’s clinical trials and benefit from treatment developed at The Ottawa Hospital.
Until then, she tries to not dwell on what lies ahead and instead focuses on her hope for a healthy future for her boys.
“The Ottawa Hospital is a leading academic health, research and learning hospital proudly affiliated with the University of Ottawa.”