What is spinal muscular atrophy? As Jesy Nelson shares twins’ diagnosis

Former Little Mix star Jesy Nelson revealed on social media that her twin girls have been diagnosed with a rare genetic condition called Spinal Muscular Atrophy (SMA) and may never be able to walk.

The 34-year-old singer welcomed twins Ocean Jade and Story Monroe Nelson-Foster with her fiance Zion Foster prematurely in May and opened up about their SMA Type 1 diagnosis in a video that she posted on Instagram on Sunday.

In the video, Nelson said: “After the most gruelling three/four months and endless appointments, the girls have now been diagnosed with a severe muscle disease called SMA Type 1.”

She added that after her twins were diagnosed with SMA, it was a very rapid process for treatment because “time is of the essence with this disease”.

“When they assessed the girls at Great Ormond Street [one of the world’s leading children’s hospitals], we were told that they’re probably never going to be able to walk, they probably will never regain their neck strength, so they will be disabled, so the best thing we can do right now is to get them treatment, and then just hope for the best,” shared Nelson.

“Thankfully, the girls have had their treatment, which, you know, I’m so grateful for, because if they don’t have it, they will die. But it has just been endless amounts of hospital appointments. I practically feel like the hospital has become my second home.”

To gain more insight about this condition we spoke to Giles Lomax, CEO at Spinal Muscular Atrophy UK (SMA UK), who explained what the different types of SMA are, and highlighted some early signs to look out for.

What is SMA?

“SMA is a rare neuromuscular condition, and it affects around one in 14,000 births per year and is characterised by the loss of motor function across the whole body,” says Lomax. “SMA is a genetic condition that is hereditary. There’s a one in four chance that your mum and dad could pass on the faulty SMN1 genes, which is what then means that you have SMA.”

What are the different types of SMA?

There are really four main types of SMA.

Type one starts when babies are less than six months old, according to the NHS website.

“Type one is the most severe type of SMA and babies with this tend to be really floppy infants that have difficulty breathing, coughing and swallowing,” highlights Lomax. “These babies tend to never sit and don’t go past the lying phase.”

Whereas, the NHS website states that type two usually starts in babies between six to 17 months old.

“They can usually sit but wouldn’t be able to stand or walk,” says Lomax. “They tend to have big motor development, weaknesses and difficulty in coughing and potentially have scoliosis in their spine.”

Type three is usually diagnosed in slightly older children.

“They would normally start walking and follow normal development pathways, but then after three years, they would start to potentially lose the ability to walk, or really struggle to walk, and you would definitely notice that considerably,” notes Lomax.

“Then the last type, which is probably the most uncommon type, is type four, and that’s actually developed in adulthood, so 18 years and above. That’s probably the most rare type of SMA, and it’s quite difficult to diagnose, because at that stage there could be other other conditions that it can also fall into. It’s a little bit milder in terms of their physical capabilities, but it’s still a really serious condition to have.”

What are some early signs of SMA Type 1 to look out for?

Each child and patient is affected differently, but there are some general signs to look out for.

“One of the big signs to look out for is floppiness, so if a baby can’t lift their head up, or has difficulty lifting their head up, and they potentially might also  struggle with feeding as well,” says Lomax.

Belly breathing is another common sign.

“Rather than breathing in their upper chest, they breathe a little bit more in their abdomen,” says Lomax.

He also adds that these babies will also probably have abnormally low muscle tone.

“They often have low muscle tone in arms and legs and potentially don’t move as you would expect a normal baby for example, they don’t kick and wiggle their arms,” says Lomax.

How is it diagnosed?

“SMA is diagnosed by a blood test,” says Lomax. “Even if you are symptomatic, you would still need to have a blood test to confirm that you have the SMN1 faulty gene.

“If babies have that blood test done really early and are given the disease modifying therapies, in many cases these children can grow up to follow normal development pathways.”

What are the dangers/complications of this condition?

“If a type one child is not treated at all, the likelihood of them surviving past two is very slim,” says Lomax.

Children and adults with SMA often tend to suffer with a plethora of health issues.

“Because their muscles aren’t very strong, particularly in their respiratory muscles, they can’t cough as well, and that means that they are susceptible to colds, and in many cases, particular the Type 1 children, if they get a cold, they can’t clear the secretion, so they often get admitted to intensive care,” says Lomax.

SMA can have a huge impact on everyday life.

“Somebody living with SMA tends to have a lot of different hospital appointments and has lots of different specialties to go and see,” says Lomax. “It might be occupational therapy, or the physio sessions, respiratory sessions, or consultant neurologists. Then they also have to understand the equipment that they might need like orthotics, spinal braces, respiratory equipment, a wheelchair and/or housing adaptations.”

Can it be treated?

There are three disease modifying therapies available to treat SMA in the UK.

“Zolgensma is a gene therapy and is a one-time infusion into a baby, and it has to be administrated under 12 months old,” says Lomax. “The second medicine is Risdiplam which is an oral medication that you take every single day for the rest of your life, and that can be given from tiny, tiny babies all the way through to adults.

“The third medication is called Nusinersen which is a medicine that is injected directly into your spinal cord, that you get every three to four months for the rest of your life.”