‘I want to tell Jesy Nelson, there’s hope’, says Newry mum

A County Down mother, whose five-year-old daughter has Spinal Muscular Atrophy (SMA), has said singer Jesy Nelson should know “there is light at the end of the tunnel”.

The former Little Mix star revealed that her twin baby daughters have the condition, which Nelson described as the “most severe muscular disease”.

SMA is a progressive muscle-wasting disease that can cause death within two years if untreated.

Ann Reel, from Newry, found out her daughter, Hollie, had the same disease when she was almost five-months-old.

“I knew nothing [about SMA] but I wish someone had told me years ago that it can get better.”

“Hollie had a bad chest infection… she was moved from the local hospital to the Royal in Belfast. That’s when we found out there’s 99% chance my daughter had this condition and she needed treatment,” she recollected.

She said her daughter wasn’t able to fight the chest infection as she didn’t have strong enough muscles.

“She was given the gene therapy. We were told she may never walk, talk or eat… she was sent home with us and five machines. It was desperate.”

One of the machines was to help clear mucus from Hollie’s lungs.

After diagnosis, Reel said she didn’t know if her daughter would “hold herself up”.

“As time went on, she started to get better. She has her wee wheelchair now, life has gotten a lot easier. It’s like magic now.”

Reel said that her daughter could have been diagnosed quicker with earlier testing.

“If a heel prick test had been done… things would have been addressed. Time is of the essence with this.”

Heel prick tests are medically known as Newborn bloodspot screening.

The Public Health Agency in Northern Ireland said these currently test for a range of inherited conditions, including conditions such as cystic fibrosis (CF) and sickle cell disorders (SCD) but not SMA.

Dr Sandya Tirupathi, clinical lead and consultant in paediatric neurology at the Royal Belfast Hospital for Children, said there were one or two cases in Northern Ireland per year.

“It’s rare, but the signs and symptoms are there for us to pick up,” she said.

Tirupathi said gene therapy was life-changing.

“Children without treatment would die in the first year or two, especially with SMA type 1,” she said.

“Gene therapy is delivering a missing gene into the motor neurons and aims to provide the normal survival motor neuron protein which halts the muscle weakness and allows children to reach their milestones.

“This has to be done really early if we want to maximise the potential of this very expensive treatment and this is what the singer [Jesy Nelson] was trying to say, that this needs to be done really early.

“Some of the children who have got it really early before their symptoms have surfaced have gone on to walk – not everybody walks, but they could live near normal lives.”

Reel said Nelson speaking out has brought back a lot of “dark” memories when she didn’t know what the future would hold.

“But I want to say that feeling is not forever, it gets easier,” she said.

“You have to constantly check on her [Hollie], but when she does something you didn’t know was possible… it’s magic happening in front of your eyes.

“I’ll never forget when she brushed her hair for the first time. It was huge, we were told she might never be able to lift her head.

“It’s amazing, she’s thriving. She’s so strong. There really is light at the end of the tunnel,” Reel added.

Now, her mum said Hollie’s life is much like her friends.

“She’s in a mainstream school, she can talk, she plays, she sits and balances, she goes horse riding, does everything that a typical five-year-old does. She just can’t run around,” said her mum.

“She has a lot of fun. She’s just so happy all the time.”

In 2021, a life-changing gene therapy drug called Zolgensma was approved by the NHS to treat babies with the disease.

According to SMA UK, the drug delivers a healthy copy of the affected gene to the body, but timing is critical because irreversible damage may have already occurred in the nervous system.

At present, screening for SMA is only carried out on those who have a sibling with the condition.

SMA UK wants the disease to be added to a blood spot test that already checks newborn babies for 10 rare, but serious conditions.

According to the charity, an estimated 47 babies were born with the condition in the UK in 2024, although about one in 40 people carry the altered gene that can cause the disease.