A young couple have revealed the “devastating” toll a rare condition is having on their tots – but hope to educate online trolls about their battle.
Charlotte Smith, 29, and her partner, Tom Harding, 26, from Bridlington, Yorkshire, have shared their heartbreak after discovering both of their children, Ava-Grace, four and Henry, two, are living on borrowed time.
Upon realising their tots weren’t reaching certain milestones as expected, they sought out medical advice and the children were diagnosed with both lissencephaly and microcephaly.
Heartbreakingly, the health problems associated with the conditions often makes lifespan shorter – with the tots given an average predicted lifespan of just 10 years old.
But instead of grieving the limited time they have left, Charlotte and Tom have decided to celebrate their little ones’ lives and make each day full of adventure.
However, the family-of-four have been “targeted” online with cruel comments from trolls, but in a bid to challenge the negativity, they hope to educate others on the condition with their 55,000 followers on TikTok.
“We’ve had people leave harsh comments such as: ‘Can’t wait to pay for these vegetables for the rest of my life’ because we’re on disability allowance,” Charlotte told NeedToKnow.Online.
“Others have said: ‘They need putting down, no quality of life’ and it’s hurtful, but we try not to listen to them.
“Instead, a lot of the toxic comments are deleted, but we still don’t understand why people feel the need to do this.
“Charlotte likes to put out content on an average day in our lives and things about the kids, that’s the most important thing to us.
“The conditions have stopped all milestones and they can’t develop past the state of three months old.
“I don’t think they’ll ever walk, talk or interact with anything in their life.
“We both have an overwhelming fear we don’t have long left with our children.”
In June 2019, Ava-Grace was formally diagnosed with the condition, but Henry didn’t receive his diagnosis until July 2020, after he was tested for the condition at five months old.
Microcephaly is characterised by a smaller than average head, usually due to an under-developed brain, and affects one in every 10,000 babies.
Meanwhile lissencephaly is a rare, gene-linked brain malformation which has an average life span of 10 years.
Speaking about the prognosis, Charlotte said: “Henry was developing really well, but then once he was diagnosed with microcephaly, the other diagnoses came in pretty quickly through MRI/CAT scans.
“The big diagnosis was lissencephaly, otherwise known as ‘smooth brain’ which is a rare, gene-linked malformation that heavily affects development.
“I believe this caused cerebral palsy and epilepsy, which Henry was later diagnosed with – but Ava didn’t develop either of these until she suffered sepsis in June 2021, which almost killed her after she was put into a coma.”
Both parents were left “traumatised” after the diagnoses, as they weren’t aware of the severity of each condition until this became apparent in daily life.
But, after nearly losing both their children through additional health battles, they’ve realised how much joy their presence brings them.
Charlotte said: “I remember thinking we had lost her, as the sense of helplessness was crushing.
“About a week later, she woke up and that gave us a sense of joy.
“She had an ear infection, which couldn’t be seen from the outside and this progressed into a chest infection.
“We went to the doctors and they sent us home with some antibiotics, but a couple of days later, she was white as paper and started being sick.
“After calling an ambulance, we were rushed to hospital and couldn’t see her for hours while doctors struggled to save her – upon eventually seeing her, she was hooked up to various wires and a ventilator.
“It was the same with Henry, who almost left us after a brain scan.
“During the scan, his heart rate dropped massively and the resus team was called in as he went into bradycardia, a seriously slow heart beat state.
“I remember the doctors being unsure they would be able to get his heart rate back up, as it was dropping fast, where I had to call Tom to get the hospital quickly as they weren’t sure he would make it.
“Amazingly, the doctors managed to stabilise him and he recovered quickly.
“Just when you think you’ve lost your babies, an unreal feeling of relief hits you as they wake up.”
Now, they’ve been assigned health care workers to help with the daily needs of their plucky tots and have also received life-changing help from New Life, a charity which helps fund new technology for disabled children.
But, as they’ve grown older, their condition has progressed, and the couple are now unable to return to work due to being full-time carers.
She said: “They can’t hold their heads up and can’t really move in at all.
“Henry has no muscle tone, so he only makes slight movements of his arms and feet – but Ava is slightly better.
“She can left her head up very slightly and doesn’t have any controlled movement.
“Unfortunately, the cerebral palsy affects their muscles and the Lissencephaly means even if they could move their limbs, they wouldn’t be able to learn how to.
“When carrying them, we have to support their whole body and this is getting quite difficult due to them getting heavier.
“Both of us have had to quit work, as even going out with them is a task.
“Henry suffers from excess salvia, so he risks choking, but we’ve been provided a suction machine to help with this.
“Our social lives are non-existent, mainly because we’ve always got to be around incase they need to go hospital quickly – our daily lives are solely focused on the kids.”
Luckily, they receive funding from the council and disability living allowance to ensure finances are covered and are currently looking at a specialised school for both tots – but with a lifespan average of 10 years, they are trying to remain hopeful.
The mum-of-two added: “Seeing these terrible conditions cause our children pain is heart-breaking and at first, we tried to think of solutions that could null the effects – but it’s quickly become clear they will have a restricted life.
“It’s been devastating watching the conditions harm them both and the most noticeable thing is they both smile less, while losing the bubbly personalities they only had a year ago.
“Ava has received an operation on her hips, which has helped her muscles – but in general, I think they’ve both gotten used to the pain.
“It takes a lot of mental processing and time to get used to this unexpected change.
“It’s taken a while to get to a level of peace, where I’d say we’re both happy and content.
“Most parents celebrate when their children walk or talk, but we can celebrate the smaller things like a smile or giggle during play times.”
