What two little boys taught me about life with SMA - and the breakthrough that offers hope

The popstar Jesy Nelson revealed earlier this year that her twin daughters were born with Spinal Muscular Atrophy (SMA) type 1 – a rare, muscle-wasting disease.

In speaking publicly about her babies’ illness, she has encouraged those in a similar situation to talk more openly about the condition.

Weeks away from the start of a trial in Scotland to screen newborns for the condition, I spent time with families living with SMA to get real insight into what it’s like.

Daily routine of milk feeds and medication

It’s 4pm in Perth, and I’m standing in the kitchen watching mum-of-two, Elaine Donoghue, as she lays out her son Max’s medication for the next 24 hours.

She carefully places her nine-year-old’s medication in individual tubs, then sets about preparing his milk feed and medication.

This is her daily routine. It begins at 6.30am and “sort of” ends around 8.30pm. I say “sort of” because even when Max is asleep, Elaine still has to get up throughout the night to turn him, since he can’t roll over on his own. If he stays on one side too long, his ears become sore, and he calls out for help.

Children with SMA can’t fast, and they can’t go more than four hours without food because they lack the glycogen stores and muscle mass needed to keep their blood sugar stable. Without regular feeding, their blood sugar can drop sharply, which can be very dangerous.

As the bundles of medication were being sorted, I sauntered over to the kitchen fridge adorned with pictures drawn by Max.

His medication and feeding routines were also on display. It was a shock, seeing in black and white just how much medication he needs.

Between his medications and feeds, he needs something on average every hour – sometimes as often as every half hour. It’s truly round‑the‑clock care, and every bit of it is needed to keep Max alive.

This is Elaine’s life and a glimpse of what it’s like to deal with the enormity and responsibility of managing this devastating disease.

While she measures out his meds, Max is in his chair in the next room, happily watching TV after a busy day at school. Like other kids, he enjoys an after-school snack, but as Max is tube-fed, the only snacks he can manage are small, dissolvable foods.

Max is a thriving and determined wee boy

Despite his severe disability, Max attends a mainstream school and thrives there – something I saw for myself when I joined him in class, along with my producer Laura and camera operator Stevie.

Among his school friends, he was like a typical little schoolboy, except he had a learning assistant by his side at all times.

I saw him laughing, joking, and drawing like a typical wee boy, before moving independently to the teacher to have his work checked. He certainly wasn’t letting his disability get in his way.

I also watched in the family’s living room as Elaine lifted Max from his chair into his standing frame, which helps support his bone density.

Elaine helping Max from his chair into his standing frame. STV News

Max can’t stand unaided, so the frame gives him precious time upright. Watching her carry out this careful manoeuvre really brought home just how much families living with SMA have to manage.

It’s a lot, and much of the strength they find comes from the support of other families who understand exactly what they’re going through.

The SMA community are a tight bunch

With such a small number living with this experience, it’s perhaps not surprising that the SMA community is such a tight bunch; not many could truly understand how hard it is to cope with this condition.

I learned that meeting others going through the same stresses had brought comfort and friendships. Friends like Max McCorkindale. Sharing the same name, age and rare condition, these two little boys and their families are in contact.

I spent time getting to know this other family, and the two Maxes share many of the same qualities: a strong sense of independence as they move confidently in their chairs, a love of school, and a real joy in spending time with their friends.

Just like Max from Perth, Max from Greenock has a jam‑packed schedule of after‑school activities.

His mum, Claire, told me how difficult things were around the time of his diagnosis. He had been a bouncing, happy baby, but by then, he had lost the ability to roll and could no longer lift his arms. It was an incredibly hard period for the whole family.

At the diagnosis, however, there was a glimmer of hope as the consultant said new treatment was on the way.

It was the hope they needed.

Hard to fathom how far medical science has come

Listening to Claire, I couldn’t even begin to imagine how she felt. Your child is getting weaker by the day, yet you know there’s a treatment out there, but you don’t know when.

There’s no doubt it has. Looking at both of these little boys and seeing how much they embrace life, it’s incomprehensible to think that at one point their lives would have been cut tragically short.

It’s hard to fathom just how far medical science has come, especially when you consider that nine years ago, Max’s mum, Elaine, was told at his diagnosis to “take Max home and make memories. Enjoy his Christmas, as he might not see another.”

Even more remarkable is that, as of next month, Scotland will become the first part of the UK to trial a screening programme that detects the condition at birth.

Early detection is crucial – if it’s caught too late, some of the damage may already have occurred.

Of course, for the families I met for this report, this incredible progress is bittersweet. It won’t change their direction of life.

But for the next generation, it could change everything.