Evelyn Ohlsson, from Royston, was recently diagnosed with spinal muscular astrophy (SMA), a genetic disorder that causes paralysis, muscle weakness and progressive loss of movement. The one-year-old has the most severe form of the disease, which is typically diagnosed in babies before they reach six months, leaving her with a life expectancy of just two years. A healthy baby should kick from the knee, but baby Evelyn’s parents noticed that she would only wriggle her feet, something which they thought was a harmless quirk.
Her mother, Laura Ohlsson said: “We always used to say that she had happy feet. You know, it just seemed like her little thing.”
Evelyn now has severely limited mobility, unable to move anything other than her ankles and wrists.
She is also on a feeding pump, has blood tests once a week and often coughs and chokes on her secretions, which build up in her lungs.
Her mother has not been able to go back to work, while her father has had to take sick leave to help. Now that Craig’s back at work, Laura can barely leave the house because she needs a second person in the car in case Evelyn can’t breathe.
Ms Ohlsson said: “She went on steroid medication. To have blood tests, at least once a week, if not twice a week to start with.
“They actually ended up running out of places to get blood from her. She was like a pincushion. And it’s heartbreaking. It’s heartbreaking.”
Evelyn’s father, Craig Ohlsson, described her as a “superhero”.
He said: “She has so many needles and tests and things done to her, but she’s always got a smile on her face.
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Evelyn’s condition was discovered when a family member pointed out that something didn’t seem quite right with her muscles.
They mentioned a symptom called “hypotonia”, which Laura had never previously heard of.
“I’d seen a video whilst I’d been doing too much digging,” Laura said, “and I immediately thought to myself: ‘Oh my god, Evelyn does that. That’s what she does.’ I had absolutely no idea what SMA was. I’d never heard of it.”
This is when Ms Ohlsson noticed that Evelyn didn’t kick from the knee, wriggling her feet instead.
Another indicator of the disease is a bell-shaped chest, with the top of the chest being narrower because the rib cage lacks muscle strength.
It was when Ms Ohlsson held another baby, the first baby she had held since having Evelyn, and she noticed the difference in muscle strength that she immediately knew something was wrong.
Describing the day he found out, Mr Ohlsson said: “That day, I just remember getting a text to say the doctors wanted to talk to us. I remember walking in, my legs shaking, because I knew it wasn’t normal. They told us and I just remember Laura crying, and holding her.”
“There’s one phrase that always sticks with me when we first found out: we’re grieving the life that we thought we were going to have.
“We did think, you know, about all those things like taking her to school, all them things that you think about before she comes here. We now know that we can’t do as much.”