Doctors joked Ezra Mattinson, from Hull, had “happy baby syndrome” – but just weeks later the infant was diagnosed with Leigh syndrome, which is a severe neurological disorder
A baby was diagnosed with a severe neurological disorder weeks after his mother was told she had “new mum anxiety”.
Doctors even joked Ezra Mattinson, one, had “happy baby syndrome” but just weeks later, an MRI found abnormalities in his brain and the infant was diagnosed with Leigh syndrome. The disorder, which affects just one in 40,000 newborns worldwide, causes the progressive loss of mental and movement abilities – and can become so severe the body may not have the strength to fight off a common cold.
His parents Laura, 33, and 32-year-old Josh had their suspicions after noticing Ezra began “unlearning” his milestones at eight months – including suddenly being unable to sit up, talk and crawl – as well as never crying. Their experience comes after the NHS warned a mouth symptom could be sign of a life-shortening disease.
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Laura, from Hull, says GPs initially just told her to “relax” and joked he was suffering from “chilled, happy baby syndrome”. Ezra eventually got an MRI scan and medics at hospital in June recognised he had the neurometabolic disorder.
Now, Laura, who has no other children, is now focused on making as many memories as possible with Ezra and wants to take him to Disneyland before his third birthday. She said: “It’s devastating because, if we hadn’t been dismissed so early on, we could’ve known sooner.
“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 cares for the tot full-time, said Ezra was progressing at a normal pace – even learning certain words, like “dad”, “hiya” and “bye” – by the time he was eight months. However, his development began to unravel and by April, he was only able to babble, and could only 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.
After being “repeatedly dismissed” by doctors, Ezra’s inability to cry was spotted by a nurse administering his one-year vaccines. The nurse said it “wasn’t normal” for babies not to cry after being injected and decided to refer him to Hull Royal Infirmary for further tests.
Ezra was given an MRI on April 15 which showed changes to the back of his brain – confirming he wasn’t just a “chilled 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.”
Doctors began genetically testing Ezra and he flagged for Leigh syndrome. Before they had the chance to test Laura, she told them her mum, 65, had recently been diagnosed with adult-onset Leigh syndrome – but had been asymptomatic for most of her life.
Adult-onset Leigh syndrome, which can affect anyone over the age of 18, is incredibly rare, with only a few cases diagnosed around the world, according to the National Library of Medicine. While Leigh syndrome is known to primarily affect newborns, adults may be affected, 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 told that Ezra would be unlikely to survive past the age of three – and even a common cold could mean moving to end-of-life care.
The mum of one has set up a fundraiser to make as many memories with the tot as she can, including taking him to Disneyland for his second birthday in December.
She said: “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.”
To donate to the fundraiser, visit this link.