‘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”.

Former Little Mix star reveals her twin baby daughters also have the conditionNelson described it as “the most severe muscle disease.”

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

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

“I didn’t know anything [about SMA] But I wish someone had told me years ago that things could be better.”

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

She said her daughter couldn’t fight off a chest infection because she didn’t have strong enough muscles.

“He was given gene therapy. We were told he would never walk, talk or eat… he was sent home with us and five machines. It was a desperate situation.”

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

After her diagnosis, Reel said she didn’t know if her daughter would “be able to support herself.”

“As time went on, he started to get better. Now that he has a little wheelchair, life has gotten a lot easier. It’s like magic.”

Reel said that her daughter could be diagnosed more quickly with earlier tests.

“If the heel blood test had been done… the problems would have been solved. Time is of the essence in this matter.”

The heel blood test is medically known as: Newborn blood spot screening.

The Public Health Agency of Northern Ireland said they 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 pediatric neurology at the Royal Belfast Children’s Hospital, said there were one or two cases a year in Northern Ireland.

“It is rare, but the signs and symptoms are there for us to detect,” he said.

Gene therapy is life-changing, Tirupathi said.

“Untreated children will die within the first year or two, especially from SMA type 1,” he said.

“The gene therapy delivers a missing gene to motor neurons and aims to deliver the normal survival motor neuron protein that stops muscle weakness and allows children to reach milestones.

“If we want to maximize the potential of this very expensive treatment, it needs to be done really early, and that’s what the singer is aiming for.” [Jesy Nelson] I was trying to say that this should be done really early.

“Some of the children who caught the disease very early, before their symptoms appeared, began to walk; not everyone can walk, but they can live a normal life.”

Reel said Nelson speaking out brought back many “dark” memories of times when he didn’t know what the future would bring.

“But I want to say that this feeling does not last forever, it gets easier,” he said.

“You have to keep checking on him [Hollie]But when he does something you didn’t know was possible… it’s magic happening right before your eyes.

“I’ll never forget the first time he brushed his hair. He was so big, we were told he’d never be able to lift his head up.

“It’s great, it’s improving. It’s very strong. There really is light at the end of the tunnel,” Reel added.

Hollie’s life was a lot like her friends’, her mother said.

“He studies at a mainstream school, he can talk, play, sit and balance, ride a horse, do everything a typical five-year-old does. He can’t run around,” his mother said.

“He has so much fun. He’s always so happy.”

in 2021 A life-changing gene therapy drug called Zolgensma has been approved by the NHS to treat babies with the disease..

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

Currently, SMA screening is only performed on people who have a sibling with the condition.

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

An estimated 47 babies will be born with the disease in the UK in 2024, but around one in 40 carry the altered gene that can cause the disease, according to the charity.