When Sarbjot Kaur’s son Mehtab was two years old, she noticed he wasn’t as active as his sibling had been.
While he was achieving all growth milestones; he would often loose his balance and falldown while walking, couldn’t climb up or down the stairs, and had trouble standing up from a sitting position from the floor.
He also had very low energy and was always fatigued. Some friends and family would say Mehtab was just “lazy.” But, Sarbjot knew something was wrong.
After waiting a year for proper diagnosis, Kaur was told her son has spinal muscular atrophy type III (SMA) — a rare, genetic, neuromuscular disease that is progressive and is classified into various subtypes depending on the severity – type III is classified as the mild form. If left untreated, SMA causes all skeletal muscles to weaken that are used for crawling, walking, standing and even holding objects.
In severe cases, SMA can impact the ability to swallow and breathe leading to severe disability or death. SMA doesn’t affect a person’s ability to learn, think, or have relationships.
As a progressive disease, it is essential to diagnose and treat SMA as quickly as possible. According to Cure SMA Canada, SMA is a common ‘rare disorder’ impacting approximately 1 in 6,000 babies born and about 1 in 40 Canadians are genetic carriers of the SMA gene.
“I had never heard of SMA. But, I’m so very thankful we caught it early because after the initial shock of the diagnosis, we were heartened to learn there are treatment options that can make a real difference in helping Mehtab,” says Kaur.
Mehtab has significantly improved since starting his treatments at Sick Kids Hospital in conjunction with physical therapy.
“The treatment has been night and day. I see a huge difference in his energy levels, his motor skills and he just seem happier. He will be starting school this September.”
“We often don’t want to admit there is a problem either out of denial or fear that comes with illness,” says Kaur.
“But diagnosing SMA and getting treatment made all the difference for our family. I know it’s scary when addressing a family illness. But, you are not alone and there are likely resources and treatment options available. While an illness may impact a child’s development, it does not make them less valuable, less human, or less important. We need to understand that individuals with chronic ailments are equally capable of achieving their full potential if there is equity created through inclusion, awareness and advocacy.”
Kaur is passionate about spreading awareness to other families — particularly in the South Asian community. She has become an advocate for better access to treatment for all. Treatment options vary across the country and can be limited according to the age of the patient.
“Can you imagine an effective treatment being available and not being able to get it? It’s unthinkable,” says Kaur.
“Age or which province you live in shouldn’t affect anyone’s ability to get better and manage this very serious condition.”
Living with a rare disease can be isolating. It can be difficult for families to interact with others who have shared their experience and understand what they are managing. A new online resource called SMAshingbarriers.ca has been developed by the SMA community, for the SMA community across Canada. on Facebook and Instagram that allows Canadians within the SMA community to connect, share questions, comments and needs surrounding their SMA journey. “The journey can be scary and isolating,” says Kaur.
I want people to know they can get help and they don’t have to do it alone. Acceptance begins at home. With support and understanding, I believe we can overcome the greatest life challenges.”
For more information on SMA, please visit Curesma.ca and SMAshingbarriers.ca.