The family of a baby diagnosed with a rare and deadly disease have said they will never give up hope that their little girl will be strong and healthy again.
Evelyn Ohlsson, 1, from Royston, Hertfordshire, has spinal muscular astrophy (SMA) – a genetic disorder that causes paralysis, muscle weakness and progressive loss of movement.
She has the most severe form of the disease and faces a life expectancy of just two years, but her family are fighting to raise awareness to push research into treatments.
Her mum and dad, Laura and Craig, said baby Evelyn was perfectly healthy when she was born.
“She developed a sense of humour really early on,” Laura told HertsLive. “She does little things like pulls faces to make you laugh.”
It was a family member who pointed out that something seemed odd with the infant’s muscles, mentioning a symptom called ‘hypotonia’ which Laura had previously heard of and decided to look up.
“I’d seen a video whilst I’d been doing too much digging,” she 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 began to research SMA, she spotted symptoms that she had seen in Evelyn.
While a healthy baby should kick from the knee, a baby with SMA can only wriggle their feet. The family had noticed that in Evelyn, but they thought it was a sweet quirk.
“We always used to say that she had happy feet,” Laura said. “You know, it just seemed like her little thing.”
Another sign of SMA is a bell-shaped chest, where the top of the chest is narrowing because the muscle strength isn't there in the rib cage.
It wasn’t noticeable in Evelyn at first and when it started, Laura thought she could be imagining it.
There was a slight tremor in her daughter’s tongue as well, but Laura tried to convince herself that everything was okay.
It was not until she held another baby who was born three months after Evelyn, that Laura’s heart sank.
She immediately felt the strength in the little boy’s muscles and knew something was seriously wrong.
Laura took Evelyn to A&E, where staff did the usual checks and kept her overnight to monitor her. Then Laura was approached by a team of medical staff including a neurologist.
“I explained to her what was going on,” Laura continued. “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.’”
The doctor began to examine Evelyn and point out the symptoms of SMA but it took two weeks for the medical team to confirm a diagnosis through a genetic blood test.
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.”
The couple said they don’t remember a conversation where the doctors outlined the worst-case scenario.
“I just remember them saying it's very serious,” Laura said. “It's very, very serious. She's very weak and it's a progressive condition, which if you know what progressive means, it just continues to get worse.”
As she had researched the disease online, Laura was aware that there was a groundbreaking gene therapy treatment.
She immediately asked whether her child could have that and conversations with the doctors steered towards their options and hope for Evelyn’s future.
Evelyn suffers from the most severe form of the disease, typically diagnosed in babies before they reach six months.
She has severely limited mobility, and cannot reposition herself and only moves from her ankle to toes and elbow to fingers.
She is on a feeding pump and is still on weaning solids. Her parents can only pick her up in a certain way, using both hands to support her.
“She went on steroid medication,” Laura added, “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.”
Baby Evelyn also coughs and chokes on her secretions, which build up in her lungs. Whenever she’s in the car, someone has to be in the back with her with a suction syringe.
As a result, Laura has not been able to go back to work and Craig has had to take sick leave to help.
With Craig back at work, Laura can barely leave the house because she needs a second person in the car in case Evelyn can’t breathe.
Laura’s older daughter, Lexi, 12, is forced to be braver than most children her age as her little sister needs so much help.
Their home looks like a hospital, with a special bed, oxygen converter, SATs monitors, ventilators, alarms and lights – and it seems as though every time they go to hospital they return with a new piece of equipment.
The life expectancy for a baby in Evelyn’s condition is just two years but research into treatments is moving quickly, and Laura and Craig are fighting to raise awareness.
Treatment may come too late to save Evelyn’s life, but it could save someone else’s baby.
“We owe it to Evelyn and we owe it to other babies to make sure that people know what this is,” Laura said. “We just want everyone to know how amazing she really is. She's so brave.
“She has so many needles and tests and things done to her, but she's always got a smile on her face. She really is just the happiest baby, despite everything.”
“She’s a superhero for what she’s gone through,” Craig said, adding that the family call her their little “pink power ranger”.
He said it is difficult to say how Evelyn has been affected because she lights up every room with a smile. But asked how they are coping as a family, Craig hesitated before saying: “Honestly? Not amazing.”
“There’s one phrase that always sticks with me when we first found out,” he added. “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.”
Laura added: “Everything about our life is uncertain, whether that’s the next 10 years or the next 10 days. Everything can change, and it has done.”
The uncertainty is the most difficult part of their lives, she said. “You know, we're never ever going to be in a situation where someone can say: ‘She's going to be okay, now.’
“We have absolutely no idea what our future looks like, or her future looks like.
“You make plans, don't you? And you work towards things and you sort out yourself. You assume that you're going to be here for a long time and everybody else is going to be here for a long time and you don't really question it.
“I think just trying to be more present and live in the moment is what we've really had to learn, because it's too much to start looking ahead. It’s too overwhelming.”
You can find out more about Evelyn's story and donate to the fundraiser here.
