Girl diagnosed with rare muscle condition after she stopped crawling

By Emma Dunn

A girl was diagnosed with a rare muscle-wasting condition after she stopped crawling as a baby.

Ellie Soares, 11, seemed like a healthy baby at first, but then at nine months old she slowed down and stopped crawling. 

Genetic testing showed that Ellie has a rare degenerative muscle-wasting condition called Spinal Muscular Atrophy (SMA) Type 2.

The condition is life-limiting and life-shortening, affecting muscles progressively from the spine outwards and affecting swallowing and breathing.

While she is still able to use her lower arms and hands to write and draw, the muscles in Ellie’s upper thighs have now become too weak for her to stand independently or walk.

The family have leaned on support from charity Julia's House - a children’s hospice which provides specialist care for children with life-limiting conditions and support for their families.

Mom Beth, 47, from Salisbury, Wiltshire, said: “The shock period was absolutely awful.

“I was searching for a cure anywhere I could. We were just desperate – we were like frightened children.

“She dreams that she’s not in a wheelchair. She dreams that she can run.

“It’s so hard, you can imagine.

“While she does physically struggle, on a day-to-day, it’s Ellie’s confidence and sense of identity that’s damaged the most.

“She still very much cries because she can’t go on a climbing frame and do things like other children. Her mental health is massively affected.

“In 2023, Ellie took to her bed on and off for about six months. She was saying she didn’t want to live, she dropped out of school, and she stopped eating. It was an incredibly scary time for us and for her.

“But that was luckily the year that we discovered Julia’s House, and things changed massively."

Ellie said: "I've been in my wheelchair since I was four years old. As a baby, I crawled a lot and I used to be able to stand a tiny bit, but now I can’t do that because my muscles are getting weaker. My mom and dad were told that I had SMA Type II. It stands for Spinal Muscular Atrophy.

"I feel sad sometimes because I can't join in with the other children, like in the park. I go off and talk with the adults a bit more instead.

"Julia's House has helped us very much in so many different ways."

Ellie stopped crawling when she was nine months old.

She said: “That was when we first started to think something might be wrong.” 

The family had to watch Ellie deteriorate and were desperate for help when they found Julia's house.

Beth said: “It felt like our whole house was on fire and Julia’s House came and extinguished the flames. I could cry on nurse Elaine’s shoulder, and she was there to reassure me, and all the Julia’s House nurses and play worker and counselor were helping Ellie through her very fragile mental health condition.

“They just came in and gave us a chance to heal a bit. Cope a bit. Relax a bit. We were given this 360 care and love from people that were so gentle with us when we were so damaged.

“They looked after Ellie and we’d see her smile. The sibling worker looked after our other nine-year-old daughter Florence and we’d see her smile. And for me, being around other moms has been so great. There are lots of moms like me who are keeping on going and staying positive and they’re very inspiring for me.

“Being around other children who are in wheelchairs or know what it’s like to have a complex condition has also been phenomenal for Ellie. She has developed some really special friendships because of Julia’s House.

“It’s a very raw life, having a child like Ellie.

"Being part of Julia's House is like belonging to a family where you don’t need to explain how tough things are. Everyone knows and everyone is trying to help you in that circle.”

Beth has had to think about Ellie's end-of-life care.

She said: "At Julia's House, there is an end-of-life suite at the hospice. And we've talked to Nurse Elaine about what we would want to do, and how we would like to be supported, were Ellie's condition to suddenly deteriorate.

“I know just from the time that Ellie's been at home in bed poorly that I wouldn't want to nurse Ellie at home in that situation. Because I just feel very vulnerable and frightened that I’d need to be good medically.

“And I can imagine at that time, all I would want to do is just be a mom, and Norberto would just want to be a dad, and Florence would just want to be a sister, and we wouldn't want to worry about anything else.

“And I think that's what Julia's House would offer us, if anything like that were to happen – that we would have a safe place to go, that we could concentrate on being a loving family and not on the medical elements.

“And I just can't imagine going through that without Julia's House. It's just too terrifying and it's too devastating. You just want to be around an extended professional family that shows you love and compassion. That's all you want, and that's what Julia's House does.”

The charity is struggling to meet its rising demand and £5.1m cost of care and is this year facing a $1m budget deficit.

Martin Edwards, chief executive for Julia’s House, said: “We’re a vital service for local children and families, and relieving pressure on the NHS, and we're hoping our critical role will be reflected in the Government's upcoming 10 year health plan as well as the continuation of the Children's Hospice Grant beyond 2026."