A Melbourne mum has detailed the heartbreaking moment she discovered her son's rare birth disorder which left him at risk of having seizures and going blind.
Parents Brittany, 29, and Daniel Bevans, 32, were distraught when they learned their five-month-old boy Louie had craniosynostosis, a condition that occurs when the bones in the skull fuse together too early, forcing doctors to remove part of his skull.
Louie was first diagnosed in December 2021 after Ms Bevans noticed the unusual shape of her son's head. At first, doctors dismissed her concerns and insisted nothing was wrong — but the worried mum pursued it further.
Mother's instinct led to diagnosis
Ms Bevans says her mother’s instinct kicked in long before Louie was diagnosed, as she just "knew" something was wrong. Taking matters into her own hands she took her son to the Craniofacial team at the Royal Children's Hospital in Melbourne.
"We first became aware of an issue with the shape of Louie's head shortly after his birth," she said. "Despite our concerns being raised, we were consistently told that it was simply a case of 'Birth Head'."
Unfortunately, over time, his head shape did not improve and appeared to worsen, she explained. "The worry consumed me every day, and I constantly examined the shape of his head. As I delved into research on the condition, I realised how serious it could be if left untreated."
Baby's skull broken during life-changing surgery
Ms Bevans was made aware that Craniosynostosis can often lead to brain damage, blindness, and intracranial pressure due to insufficient space in the skull for the brain to develop.
Doctors were forced to perform drastic surgery to save his sight which involved removing and breaking his skull into tiny pieces.
"It was my greatest fear," Brittany, who works as a brand specialist, told NeedToKnow.co.uk. "It was overwhelming to consider that my baby would have to undergo such a complex and risky procedure.
"The idea of his skull being cut open, broken apart and reconstructed filled me with intense anxiety. The constant worry took a toll on my mental health and two months after Louie was born, I was eventually diagnosed with postnatal anxiety.
"This was undoubtedly the most challenging and difficult period of my life."
Toddler's speedy recovery
The seven-hour operation, known as a cranial vault reconstruction, was performed in October 2022. Surgeons made an incision over the top of the head from ear to ear, then pulled the skin and soft tissues over the forehead to expose the skull – before breaking it and piecing it together like a puzzle.
Louie received over 60 stitches and two blood transfusions and had to remain in hospital for five days to recover. But he's "doing great now" his mum revealed. "He's a super happy and energetic toddler!"
"While he may have hit a few milestones a bit later than usual, his body was focused on healing after a major surgery, so we're not too concerned," Ms Bevans said. "That being said, we want to make sure we stay proactive and address any potential speech-related issues, which is why we'll be visiting a speech therapist."
The worried mum said she is still "a bit more cautious whenever Louie isn't feeling his best."
"But I think that's just the natural instinct of a mother, and I don't think it'll ever go away," she explained.
Mum raising awareness about rare birth defect
To help other parents, Ms Bevans is now on a mission to raise more awareness about craniosynostosis though TikTok, where she has over 24,000 followers.
"As a parent, I have seen first-hand the lack of education and understanding surrounding this condition within the medical field. Through my TikTok platform, I have shared my son's experience with craniosynostosis, and I have received overwhelming support from other parents who have faced similar challenges," she said.
"However, I have also noticed a common thread among these parents: they have struggled to get a diagnosis, and their concerns have been dismissed by medical professionals. I am passionate about advocating for other parents and children facing similar challenges."
Parents urged to trust their instincts
The 29-year-old is urging others to trust their instincts as hers is what led to her son's life-changing diagnosis.
"If I hadn't trusted my instincts and followed up with doctors, I shudder to think what might have happened to Louie. These nagging doubts motivated me to seek answers and I am so grateful that I did," she said
"As a parent, there's nothing more important than seeing your child grow up to be happy and fulfilled. Knowing that the surgery has given Louie the chance to live a normal life fills me with immense joy and gratitude.
"It's such a relief to know that he won't have to struggle or suffer unnecessarily."
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