Doctors Miss Rare Disease as Baby ‘Unlearns’ Skills

Doctors Miss Rare Disease as Baby ‘Unlearns’ Skills

A mother was shocked when doctors first dismissed her concerns about her son’s health, calling him a ‘happy baby’ — only to later find out he has a rare, incurable disease.

Laura Mattinson from Yorkshire noticed her son Ezra, now one year old, was losing skills he had already learned. He stopped crawling, talking, and even crying.

“At seven months, he started trying to crawl — but then stopped. He began to unlearn things he already knew,” Laura said.

When she took Ezra to the doctor, the GP told her she had “new mum anxiety” and joked about Ezra having ‘happy baby syndrome.’ But a nurse noticed something was wrong during Ezra’s one-year vaccinations when he did not cry after the injection.

Further tests, including an MRI scan, showed changes in Ezra’s brain. Doctors tested him for Leigh syndrome, a rare genetic mitochondrial disease affecting about one in 40,000 newborns worldwide.

Leigh syndrome affects movement, posture, and mental abilities and usually shows symptoms within the first year of life. Sadly, there is no cure.

The condition runs in Laura’s family, as her mother was recently diagnosed with adult-onset Leigh syndrome, a very rare form of the disease.

Heartbreakingly, Ezra is not expected to live past the age of three. Even minor illnesses like a cold could lead to serious health crises.

Laura and her partner Josh have quit their jobs to care for Ezra full time. They are now raising funds to create happy memories, including a planned trip to Disneyland for his second birthday.

Laura said, “It’s devastating because if we hadn’t been dismissed so early on, we could’ve known sooner.”

You can support the family through their GoFundMe page.

Sazid Kabir

I've loved music and writing all my life. That's why I started this blog. In my spare time, I make music and run this blog for fellow music fans.