What it feels like: Spinal muscular atrophy

'We did not want that SMA diagnosis — no parent wants a rare disease diagnosis.'

Emma Jones 9 minute read September 17, 2021
A family of four (mom, dad, young son and daughter) pose for a photo. Dada has his arms around the entire family.

Mehtab, centre, as a baby with his family.

Mehtab Kaur, who’s now four, was just shy of two years old when his parents noticed that he was walking on his toes. More than a year later amid increasingly worrisome symptoms, Mehtab’s parents finally had an answer for what was going on: he had a rare genetic disorder called spinal muscular atrophy (SMA).

SMA is a progressive condition which causes the motor neurons in the brain stem and spinal cord to decline. This leads to muscle weakness and atrophy, affecting such functions like breathing, speaking, walking, and swallowing. SMA is the leading genetic cause of death among infants. It is estimated that one in 10,000 live births are affected by SMA. Untreated, children with the most severe form of SMA rarely live to see their second birthday.

Healthing.ca spoke to Mehtab’s mom, Sarbjot, about the path to diagnosis, advocating for life-saving treatment and what her son has taught her about resilience.

What led to Mehtab’s diagnosis?
It took us about a year to get the right diagnosis. Mehtab made all these developmental milestones, like crawling, sitting on time and then even walking. When he was 18 months old, we noticed that he was walking on his toes. At the time we were living in Calgary. Our family doctor said that was something called idiopathic toe walking (something that is behaviour-related, like a habit).

We were planning a move to Toronto and we noticed that Mehtab would get tired more frequently — he was also falling more often. Then he wasn’t able to climb the stairs — instead he would crawl up and scoot down rather than walking up and down. He was also unable to jump.

Once we arrived in Toronto, we found a pediatrician who, at first, thought that maybe Mehtab had Duchenne muscular dystrophy. He was tested for that, but the results came back negative. She then recommended physiotherapy in case he was having a  developmental delay, but after six or seven months, he wasn’t making any progress. In fact, his fatigue increased and he started falling more. We were referred to a orthopedic specialist to have him assessed, but when the consult came up with nothing, it was suggested that Mehtab see a neurologist.

Then came the first lockdown in Ontario because of COVID-19. We had a virtual appointment with a neurologist, I think it was in June or July, he told us everything was okay, and sent us back to the orthopedist. Meanwhile, Mehtab was getting worse — he was barely able to walk 100 metres without getting tired.

By December 2020, Mehtab had developed a lazy eye, or what’s called strabismus. Our doctor was very concerned and suggested that we take him to the emergency department at Sick Kids ER immediately because she thought he may have a brain tumour that was causing all of these symptoms. After three days, and many tests, we found out he had  spinal muscular atrophy.

All of that time spent watching these worrisome symptoms, and seeing so many doctors without getting a definitive diagnosis — it must have been so frustrating.
It was also disappointing.

SMA is a disease that affects the motor neurons, and once the motor neurons die, they are gone. They cannot be revived. If the disease was caught back in June or July, Mehtab’s treatment would have started back then.  That’s why the doctors here in Ontario have added a SMA to newborn screening panel, because early detection is so important.

We did not want that SMA diagnosis — no parent wants a rare disease diagnosis. But when we left the hospital after finally finding out what was going on, it was kind of a relief.

What went through your mind when you heard that the damage was not reversible?
I don’t think I can ever forget that; it’s deep in my mind. It was like our whole world changed. It was shattering. We were scared, and at that time, we didn’t know how the treatment worked, or even if he was able to get it.

When I look back, the one thing that I’ve learned — which is what I tell other parents now — is that if you think there’s something going on with your kid and the doctors say no, trust your heart. Keep on trusting your instincts.

How is SMA treated?
When Mehtab was diagnosed, we met with many different doctors — the neuromuscular team, the genetic team and the respiratory team. Because the spectrum of the disease is so broad, and it affects every individual so differently.

The type of SMA that Mehtab has is called type three. Type one is more severe, two is moderate and type three is what is considered as mild, but it still affects a person’s ability to walk. We take so many activities in our day to day life for granted — for example, brushing our teeth. Whenever I do these things now, I keep Mehtab in my mind. I wonder if he will he be able to do those small day-to-day things in the future. Even holding a cup can be a major task for someone with SMA.

There are two treatments available. One is a gene therapy, [but] that’s only for type one and kids who are less than two years old. The one that Mehtab is getting is intrathecal injection: a lumbar puncture in the spine every four months.

In some cases, it stops the progression, in other cases, it slows the progression. [Mehtab has] had five doses of the injection so far, and he does physiotherapy every week as well as exercises at home. He is able to climb stairs now, holding onto a railing or a wall — which he was never able to do. He’s also able to run and walk now.

SMA treatment is very expensive. The gene therapy is more than $2 million, while the injections can cost more than $700,000 in the first year of treatment. Who can afford that?
[What is] very dear to my heart is the inequality that exists in our healthcare system when it comes to the accessibility of these key life-saving drugs. Currently in Canada, Quebec is the only province where SMA treatments are available to individuals of all ages, regardless of what type of SMA they have. In Ontario, though, individuals with SMA over 18 years are not able to access [funding] for the drugs. We were surprised to learn that Canada is the only G7 country that does not have an orphan drug law.*

I have colleagues in the U.S. that always rave about our healthcare. But I think when we dig deep, there are so many areas that need work, especially when it comes to chronic diseases. Imagine that you have lived your entire life in the hope that one day there will be a treatment available and now there is a treatment available, but can’t access it. It’s heartbreaking.

We are so grateful to the neuromuscular team at Sick Kids because they take care of the funding — it’s an expensive treatment. I do wonder what happens if there are cuts in the funding. How can we fund this drug that Mehtab needs for his lifetime?

*Read more about the debate around Canada’s orphan drug policy here.

What will happen if the funding comes to an end?
We have no idea, actually. He’s four now, and I’m hoping that by the time he’s 18, there will be a one-time treatment. But even if a one-time treatment is developed, will our government fund it? That’s the question, right?

As his mother, I always worry about that. It’s an expensive drug, there’s no way we can afford it even if we set up a GoFundMe page or do crowdfunding.

That must be stressful to have that weighing on your mind all the time.
Yes. We reapply for his funding every six months. Our team at Sick Kids sends in the forms and when I follow up with them, they tell me not to worry. Having a good team of doctors is so important and I’m grateful for their support.

There are other costs too. Pediatric physiotherapy is expensive —$120 an hour. And if your kid needs physiotherapy every week, it can add up. I have coverage though my employer, but that will only cover one month, maybe two months, combined with my husband’s coverage. Mehtab also goes to aqua-therapy — everything adds up.

There is this other program, special services at home. But the wait time for funding is two years.

How has your daily life changed since Mehtab’s diagnosis?
We have had to make certain accommodations around our home to make sure that he’s safe. And now that he’s starting school, we had to meet with the teachers to go over our concerns — because Mehtab’s gait is so imbalanced, even a small nudge or a small change in a surface when he is walking — for example, if there’s a transition from pavement onto grass — he may fall.

When we plan things as a family, we have to consider whether or not they are accessible. For example, right now he is in a stroller, and after one of his appointments at Sick Kids we went to the Kensington Market — it was so inaccessible with a stroller. It made me wonder how people in wheelchairs get around?

Thinking about accessibility is a major part of our day-to-day life now. Also, inclusiveness. This is part of the discussion I have had with his school. For example, during the gym period, I don’t want Mehtab to be sitting in the corner because he’s not able to play or do the activities the other kids are doing. I mean, the activities can be modified a little bit so that he’s can also be a part of it, right?

What does the future hold for Mehtab?
There are a lot of unanswered questions right now — but there’s also a lot of hope. Science is advancing and there’s so much research being done. In fact, just look at COVID-19, and how rapidly a vaccine was developed. That’s the same mRNA technology that the gene therapy for SMA is based on. So we have seen that, yes, drugs can be developed faster if there is proper funding provided by the government. Funding is key.

Tell me a little bit about Mehtab.
His resilience is unbeatable. He’s a super active kid. He knows all his dinosaurs — all of their completely scientific names. He loves playing with superheroes, and he’s obsessed with his curly hair. He goes to Sick Kids and the nurses say, “Oh my, Mehtab looks so cute,” and then he gets shy.

He has made us stronger in so many ways. He tries so hard every day, and when I see him climbing the stairs or doing physio, it gives us the motivation to keep going. I hope that if he sees us advocating and raising awareness about SMA, he will realize that at some point he’ll have to do it for himself. We are not going to be here forever. I’m also hoping that it also gives him mental strength — because at the end of the day, it’s your mindset that matters the most, and it can get you through anything.

More information and support for people with Spinal Muscular Atrophy (SMA) is available at Cure SMA Canada, Together in SMA and the SMAshing Barriers Facebook group. You can also learn more about rare diseases at the Canadian Organization for Rare Disorders.