A mother who was told that her young son was just a 'happy baby' was devastated to learn he had a rare, incurable disease.
Yorkshire mum Laura Mattinson and her partner, Josh, noticed that their one-year-old son, Ezra, was beginning to 'unlearn' key developmental milestones, such as crawling, talking, and even crying.
"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," Laura explained, adding that Ezra was around eight months old when she and Josh began to notice the changes.
"He started regressing."
The concerned mum took Ezra for a check-up at the doctor's, only for the GP to tell the 33-year-old she had 'new mum anxiety' and joked that the infant had 'happy baby syndrome'.
Laura Mattinson revealed that she began to notice changes in her son Ezra at around eight months old (SWNS) However, Laura's fears would be confirmed by a nurse after taking her son for his one-year vaccines back in April, with the healthcare practitioner noting that it wasn't normal for young children not to cry after being injected.
Ezra was then referred for further tests, with an MRI picking up on 'changes' to the tot's brain.
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Doctors then began testing Ezra for Leigh syndrome, a rare condition diagnosed in one in 40,000 newborns worldwide, with suspicions being confirmed when doctors learnt that Laura's mother had recently been diagnosed adult-onset Leigh syndrome.
According to the NHS, Leigh syndrome is a rare mitochondrial disease caused by genetic mutations. Symptoms typically develop within the first year of life and include impacts the development of movement, posture and mental abilities.
There is currently no known cure for the condition.
The youngster has since been diagnosed with a rare disease called Leigh syndrome (SWNS) While usually found in infants, a small number of cases have seen adults, such as Laura's mother, develop later on in life, with the National Library of Medicine estimating only a few cases worldwide.
Even more devastating for the heartbroken parents was the news that Ezra isn't expected to live past the age of three, with conditions such as a common cold potentially leading to the youngster needing end-of-life care.
"It's devastating because, if we hadn't been dismissed so early on, we could've known sooner," Laura added.
Both Laura and Josh have since given up their jobs to care for Ezra around-the-clock and are now fundraising to make as many memories as possible with their son, as it's not known how long they'll have left.
"They say babies with Leigh syndrome don't tend to live past three," Laura said, revealing that she wants to give him the life they could've otherwise had, including a trip to Disneyland for his second birthday.
You can donate to the family's GoFundMe here.