Mum calls to test all newborn babies for son's rare genetic condition SMA

A mum has called for all newborn babies to be tested for her son’s rare genetic condition.

As of mid-2022 it was estimated around 3,500 people in the UK had spinal muscular atrophy – a genetic condition which damages the motor nerves in the spine causing progressive muscle wasting and weakness.

While not particularly common, it is thought one in every 40 people carry the altered gene which causes SMA.

Five-year-old Nathaniel Philips from Edinburgh has SMA type 1, the most severe form of the condition.

He is a full-time wheelchair user, attends physiotherapy regularly and uses respiratory ventilation while he sleeps.

Bernadette has backed calls for babies to be tested for the condition

He is also a happy young boy, who loves big machines like tractors and cranes, and is set to start primary one after the summer.

Nathaniel’s mum Bernadette first began to notice that Nathaniel didn’t sit up like other children at a young age.

“When Nathaniel was about five to six months old I noticed he wasn’t moving the same as other children,” she said.

“I think it was one of the most terrifying moments of my life”
Bernadette Philips

“I try not to Google symptoms because I’m a nurse and I know it’s a bad thing, but I did.

“And I found SMA, and I was like, ‘oh my god, this is it, this is what Nathaniel has.’

“Then I read the next page and it said that he may not live.

“When I read that, I think it was one of the most terrifying moments of my life.”

Children are only tested for SMA if they have an older sibling who has the condition, or – like Nathaniel – once they begin to show symptoms.

There is no cure, but there are treatments which can manage the disease.

But if symptoms are already showing, that means treatment is limited to damage control.

The charity SMA UK, which helps people who live with the condition, is campaigning for it to be added to those tested for by the newborn blood spot test.

This would allow cases to be caught far earlier and means the effects of SMA can be far better controlled.

For Bernadette, that would also have provided comfort and guidance in a time of uncertainty.

“Being told what it is, how it’s going to be treated, and what the progress is going to be would make all the difference,” she said.

“Because you don’t have that terror.”

Nathaniel is a full-time wheelchair user

Nathaniel and Bernadette will be joining the charity at the Scottish Parliament on March 5 where they will urge MSPs to back their calls.

SMA UK hopes in the near future the condition will be added to testing, which they say will be a massive boost for anyone affected by the disease.

It is also campaigning at Westminster for the UK Government to make the change.

Chief executive Giles Lomax said: “At the moment every child that’s born in the UK already has the pin prick test that happens around five days into when they’re born.

“We really would like SMA to be included on that blood spot programme.

“If the disease modifying treatments are given in the sometimes the first few weeks of life, we can see actually lots of children grow up to have no symptoms whatsoever.

“We actually have loads of treatments available, we have opportunities, we have an opportunity to actually make change and change the lives of anyone born with SMA from now into the future.”