UPDATE: It is with great sadness we announce that Evelyn lost her battle with SMA in April 2022. Rest in peace sweet girl.
Evelyn Ohlsson is the picture of sweetness. She just celebrated her first birthday and has always been a happy, smiley, and what her parents thought, healthy baby.
When Evelyn was just a teeny baby, she only used to move her feet and not her knees which mum, Laura, and dad, Craig considered to be one of her many adorable quirks. They even gave her the nickname Happy Feet.
However, recently the pair were devastated to find out that this Happy Feet quirk was actually the sign of a very rare and deadly genetic condition known as SMA Type 1 or Spinal Muscular Atrophy in its most severe form.
Spinal Muscular Atrophy (SMA), a neuromuscular disorder causing the loss of lower motor neurons and progressive muscle wasting.
It is the number one genetic killer of babies under two.
‘It just seemed like her little thing’
Laura, Craig and big sister Lexie are now making the most of their time with Evelyn and hoping for a miracle as their beautiful baby girl battles this cruel disease.
The Ohlsson’s live in Hertfordshire, UK and explain how at first they didn’t realise anything could be wrong with Evelyn. They noticed that Evelyn was only moving her feet, not kicking from her knee.
Laura told local news site Herts Live:
We always used to say that she had happy feet. You know, it just seemed like her little thing.”
It was when Evelyn was about six months old that they started to get concerned about Evelyn’s muscle tone.
One day Laura held her friend’s baby, who was born three months after Evelyn – and instantly felt the strength in the infant’s muscles, and she knew something was wrong.
She took her daughter to the hospital to get her checked over and medics kept them in overnight. Craig and Laura were told that their little girl had SMA Type 1, the most severe form.
Evelyn was just six months at the time of diagnosis.
A devastating diagnosis
Laura began researching the condition and sadly started matching up several other symptoms of SMA with Evelyn’s behaviour including a slightly narrow chest (due to muscle weakness) and a slight tremor in her tongue.
Like many parents, Laura had no idea what SMA Type 1 was but she soon discovered just what it meant for their little girl.
To put it simply, SMA is one of the cruelest genetic conditions out there. It’s progressive so it gets worse and worse and affects the motor nerves (neurons) of the spinal cord.
As the disease continues to worsen, children experience muscle weakness, muscle damage, muscle wasting (atrophy), and eventual loss of function. Unfortunately, this ends in a shutdown of the body, leading to an early death.
To watch your child go through this is something we cannot imagine. The life expectancy for a baby in Evelyn’s condition is just two years but research into treatments is constantly evolving.
Craig heartbreakingly explains,
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.”
A true little superhero
Since the heartbreaking news, Craig and Laura have made it their mission to help inform parents of the subtle symptoms of SMA and soak up every second with their little girl.
In June 2020, Evelyn received a groundbreaking gene therapy treatment. While it’s too soon to know to what extent treatment will impact her, she’s been showing small signs of improvement.
We continue to pray it stops the progression of her condition. We take her into hospital almost on a weekly basis for a very comprehensive network of care, which she will require throughout her life. Our house is starting to resemble a hospital, and I’ve gone from delivering spa treatments to “nurse in training” – which has been quite a big adjustment!
The family has set up a GoFundMe account and share regular updates on Evelyn. The sweet little girl recently celebrated her first birthday and her family will never give up hope for Evelyn’s future.
She’s so strong. She’s so brave. Sometimes we’ve had a particularly rough week or she’s really dipped, and it’s been a couple of days after that and she’s moved her arm in a new way for the first time.
It’s like she can sense it in us and she can tell we need something to give us that bit of positivity again – to give us that lifeline.
It’s looking forward and just having that belief, and honestly, we have no option but to believe in her.
Despite all her daily battles, medical tests and appointments, she is so happy. She has the BEST sense of humour and smile and she teaches us a new lesson each day about bravery and resilience. A true little superhero.”
Like most of us, SMA is not something Laura and Craig knew about when she had Evelyn.
Although there is a genetic screening test for SMA (plus other genetic conditions), it is currently not offered to expecting parents unless there is a family history of it.
The test is also quite expensive – $385 for a basic genetic test and an additional $800 for a test that screens for 101 genetic conditions.
Signs of SMA
According to The Royal Children’s Hospital, how SMA affects a child depends on when the disorder first causes symptoms. Early signs of SMA include:
- muscle weakness and poor muscle tone (a lack of tension in the muscles, which can cause floppiness)
- the child’s legs are usually weaker than the arms
- babies may have feeding difficulties and a weak cry
- young children are late to achieve, or do not reach, milestones such as sitting, crawling or walking
- the muscles of the face are not affected, but the child may have difficulty swallowing
The symptoms of SMA are progressive, which means that they get worse over time. The muscles of the limbs and chest become weaker, gradually making breathing more difficult. Weakness of the breathing muscles is the most serious complication of all forms of SMA, especially in children.
For more information
- Kids Health Info fact sheet: Low muscle tone.
- See your child’s neurologist or medical team.
- Spinal Muscular Atrophy Australia; ph. (03) 9796 5744
- Muscular Dystrophy Australia; ph. (03) 9320 9555
We share Evelyn’s incredibly brave battle as a way to raise awareness. If you are able to donate, please do so through her GoFundMe page.
What to read next
We shared Australian mum Rachael’s story after losing her daughter, Kenzie to SMA in 2017. Since then Rachael and her husband Jonny have lost two more babies who also carried the SMA gene and only recently welcomed their son, Isaac.
You can read their story here.