A man in his forties was only recently diagnosed with a rare genetic condition he had lived with his entire life — after decades of being labelled simply as intellectually disabled.

His behaviour had long been treated as a cognitive issue, and his family even locked the kitchen for years, unaware that an underlying genetic disorder was driving his symptoms.

According to specialists, such cases are not unusual. They reflect a broader pattern in which rare disease patients lose critical years to misdiagnosis, delayed referrals and a lack of genetic testing.

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“Developmental delay is not a diagnosis,” said Ayman W. El-Hattab, Consultant Clinical Genetics and Director of the Genetics and Rare Disease Centre at Burjeel Medical City. “It is a description. If you stop there, you miss the cause — and the opportunity to intervene.”

At Burjeel Medical City, the Genetics and Rare Disease Centre evaluates between 600 and 800 patients every month, despite being less than a year old.

Many of those patients arrive after years of uncertainty, having seen multiple specialists without receiving a clear explanation for their condition. Some were treated for the wrong disease, while others were never referred for genetic testing at all.

In one case cited by Prof. El-Hattab, an adult patient was only diagnosed with Prader-Willi syndrome later in life. While the diagnosis could not reverse decades of impact, it helped families and carers understand the condition, manage risks, and plan appropriate care.

What the diagnosis actually changed

Prader-Willi syndrome is a rare genetic condition that affects appetite regulation, metabolism, cognition, and behavior. People with the condition typically experience constant hunger, low muscle tone, developmental delays, and behavioral challenges — symptoms that are often misunderstood or managed in isolation rather than recognized as part of a single genetic disorder.