Heartbroken mother dismissed as having 'New Mum Anxiety' before baby's diagnosis

A baby was diagnosed with a severe neurological disorder just weeks after his mother was dismissed as having "new mum anxiety". Medics even joked that one year old Ezra Mattinson had "happy baby syndrome", but an MRI scan soon revealed abnormalities in his brain, leading to a diagnosis of Leigh syndrome. This rare disorder, affecting only one in 40,000 newborns globally, results in the progressive loss of mental and movement abilities, potentially becoming so severe that the body lacks the strength to fight off a common cold.

Ezra's parents, Laura, 33, and Josh, 32, had their suspicions when they noticed their son began "unlearning" his milestones at eight months, including suddenly being unable to sit up, talk and crawl, as well as never crying. Their ordeal comes in the wake of NHS warnings about a mouth symptom potentially indicating a life-shortening disease. Laura, from Hull, recalls how GPs initially told her to "relax" and joked that Ezra was suffering from "chilled, happy baby syndrome". It wasn't until Ezra underwent an MRI scan in June that hospital medics recognised he had the neurometabolic disorder.

Now, Laura, who has no other children, is focusing on creating as many memories as possible with Ezra and hopes to take him to Disneyland before his third birthday. She lamented: "It's devastating because, if we hadn't been dismissed so early on, we could've known sooner.", reports the Mirror.

"Ezra started life hitting his milestones as normal - he could talk, sit up and was beginning to crawl. The first thing we noticed, even though he was never a big crier, was that he just stopped crying completely.

"Doctors just told me I probably had new mum anxiety, and joked he had happy baby syndrome - one even asked why I was 'so bothered about him crying."

The mum, who looks after the youngster full-time, revealed Ezra was developing at a typical rate - even mastering certain words, like "dad", "hiya" and "bye" - by the time he reached eight months.

Nevertheless, his progress began to deteriorate and by April, he could only babble, and was merely able to lie on his back.

"He started regressing. Ezra was unlearning all the things he already knew - like sitting up independently and speaking. At seven months, he started trying to crawl - but that stopped, too. We were so worried about him being in pain," Laura added.

Following being "repeatedly dismissed" by medics, Ezra's failure to cry was noticed by a nurse giving his one-year vaccinations.

The nurse declared it "wasn't normal" for infants not to cry following injections and chose to refer him to Hull Royal Infirmary for additional tests. Ezra underwent an MRI on April 15 which revealed alterations to the rear of his brain - confirming he wasn't simply a "relaxed baby".

Laura said: "The paediatrician explained there were changes but wouldn't say what - I automatically thought the worst. Josh and I went in to see him and were told it could be mitochondrial disease. I didn't want to know too much."

Medics started genetically testing Ezra and he showed markers for Leigh syndrome.

Before they had the opportunity to test Laura, she informed them her mum, 65, had recently been diagnosed with adult-onset Leigh syndrome - but had been symptom-free for most of her life.

Adult-onset Leigh syndrome, which can impact anyone over the age of 18, is exceptionally rare, with only a handful of cases diagnosed globally, according to the National Library of Medicine.

Whilst Leigh syndrome is recognised to primarily affect newborns, adults may be impacted, too.

Laura continued: "Mum's been asymptomatic for a long time. She got a diagnosis at the age of 60 after developing a bit of weakness in her arms and legs - she's also partially-sighted and partially-deaf now.

"After I told the doctors about mum, they said they didn't need to take the genetic testing any further. But, as we want more kids, I took a test on July 28 to see if I'm a carrier, or if I have it asymptomatically."

Unlike her mum, Laura was informed that Ezra would be unlikely to survive beyond the age of three - and even a common cold could mean transitioning to end-of-life care. The mother of one has launched a fundraising campaign to create as many memories with her little one as possible, including a trip to Disneyland for his second birthday in December.

She expressed: "They say babies with Leigh syndrome don't tend to live past three. Josh and I have lost a lot of money coming out of work, and we want to give him the life we could've afforded had we not left."