A one-year-old girl’s ‘sweet quirk’ turned out to be an alarming symptom of a life-threatening condition.
The family of Evelyn Ohlsson from Royston, Hertfordshire, was devastated after she was diagnosed with spinal muscular atrophy (SMA) – a genetic disorder that causes muscle weakness, progressive loss of movement, and paralysis.
Evelyn now faces a life expectancy of only two years but her family said they will never give up hope that she will be healthy and strong again.
Her parents, Laura and Craig, told HertsLive that Evelyn was perfectly healthy when she was born.
“She developed a sense of humor really early on. She does little things like pulls faces to make you laugh,” Laura said.
But a family member noticed something wrong with the little girl’s muscles, saying it could be a symptom called ‘hypotonia.’
That’s when Laura started to search about the symptom.
“I’d seen a video whilst I’d been doing too much digging,” Laura said.
“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.”
As she started to research SMA, she discovered more symptoms that she had seen in her daughter.
A healthy baby should kick from the knee but an infant with SMA can only wriggle their feet. Laura and Craig had noticed that in their child but they initially believed it was just a quirk.
“We always used to say that she had happy feet,” Laura shared. “You know, it just seemed like her little thing.”
It wasn’t until Laura held another baby who was born three months after Evelyn that her heart immediately sank.
As soon as she carried another infant, she felt the strength in the baby boy’s muscles. That’s when she knew something was wrong with Evelyn.
She took her baby girl to A&E where they were approached by a team of medical staff and a neurologist.
“I explained to her what was going on,” Laura said.
“I told her about the videos that I’d seen and what I’d read and I basically said to her: ‘I just need you to tell me it’s not that and then I’ll deal with whatever else is going on.’”
Craig 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.”
Evelyn suffers from the most severe form of SMA. She cannot reposition herself, has severely limited movements, and only moves her elbow to fingers and ankle to toes.
“She went on steroid medication,” Laura continued, “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.”
Their home now looks like a hospital, with oxygen converter, a special bed, alarms and lights, ventilators, and SATs monitors.
The life expectancy for infants in Evelyn’s condition is only two years but research into possible treatments is moving fast, and Craig and Laura are doing their best to raise awareness.
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