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Misdiagnosed for decades: UAE experts on why rare disease patients struggle for answers
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
- PUBLISHED: Tue 3 Mar 2026, 12:10 PM
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.
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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 behaviour. People with the condition typically experience constant hunger, low muscle tone, developmental delays and behavioural challenges — symptoms that are often misunderstood or managed in isolation rather than recognised as part of a single genetic disorder.
Before receiving a diagnosis, patients are frequently labelled with non-specific terms such as 'intellectual disability' or 'behavioural problems', which can shape how they are treated by carers, schools and healthcare providers. In the case cited by Prof. El-Hattab, the patient’s behaviour had been managed without a clear medical explanation for decades.
A confirmed diagnosis, even later in life, can change care in several ways. It allows families and clinicians to understand that behaviours are biologically driven rather than voluntary, enabling more appropriate medical monitoring, nutritional management and risk reduction. It also alerts carers to associated health risks that require lifelong surveillance.
While a late diagnosis cannot undo years of missed intervention, it can still improve quality of life by shifting care from symptom control to condition-specific management. It also provides families with clarity about genetic risk, helping them make informed decisions about future care planning and family planning.
Globally, the challenge is vast. Rare diseases are typically defined in the European Union as conditions affecting fewer than one in 2,000 people. While each disease affects a small number of patients, collectively they impact an estimated 400 million people worldwide.
There are more than 10,000 known rare diseases, around 80 per cent of which are genetic in origin. Half of all diagnosed patients are children, and three in ten of those children do not live to see their fifth birthday. Despite the scale of the problem, around 90 per cent of rare diseases still have no approved treatment.
For many patients, the road to diagnosis is long and frustrating. On average, rare disease patients wait more than six years to receive a diagnosis and see seven or more specialists along the way. Women, in particular, face even longer delays, waiting about a year more than men on average.
According to Razmig Varakian, Rare Disease Medical Director for the Gulf at AstraZeneca, developing treatments for rare diseases presents challenges that go far beyond small patient numbers.
“Many physicians will only encounter a couple of rare disease cases in their entire lifetime,” he said. “That makes recognition and identification one of the biggest hurdles. Awareness, medical education and strengthening diagnostic capabilities are critical to addressing the diagnostic odyssey.”
He added that because the majority of rare diseases are genetic, access to genomic sequencing and newborn screening is essential for timely diagnosis. “Without precision diagnostics integrated into routine care pathways, patients are identified too late or not at all,” Varakian said.
Varakian noted that the pharmaceutical industry often underestimates how different rare disease drug development is from more common conditions.
Unlike established diseases, rare conditions frequently lack patient registries, validated clinical endpoints or regulatory precedent. “In many cases, we are building the scientific understanding, clinical frameworks and evidence base in parallel with developing the medicine itself,” he said.
Despite these barriers, progress is being made. AstraZeneca currently has seven approved medicines across eight rare diseases and is aiming to deliver five new medicines by 2030. Among the areas under study are long-acting complement inhibition for complications following bone marrow transplants and kidney injury after heart surgery.
The company also has a treatment for amyloidosis — a disease in which abnormal proteins build up in organs such as the heart — which received FDA Fast Track Designation in 2024.
In addition, AstraZeneca is developing a next-generation therapy for hypophosphatasia, a rare condition affecting bone and teeth development, after patients highlighted the burden of existing treatments.
Access, however, remains uneven even when therapies exist. Varakian said scientific breakthroughs alone are not enough. “Medicines must be supported by strong regulatory systems, early diagnostic capabilities and healthcare infrastructure that enables timely patient identification and treatment,” he said.
Across the Gulf, AstraZeneca is focusing on long-term public–private collaboration to strengthen the entire patient pathway, rather than concentrating solely on product availability.
This includes working with health authorities, regulators and specialist centres to improve diagnosis, referral networks and clinical expertise in rare diseases.
Regulatory cooperation across the GCC is also key, Varakian said, noting that initiatives to streamline registration processes and reduce duplication can accelerate access without compromising safety or efficacy.
Expanding regional research participation is equally important, helping ensure patients in the Gulf are included in clinical development programmes.
Delayed diagnosis, however, can have irreversible consequences for certain conditions. Prof. El-Hattab warned that for some neuromuscular and metabolic disorders, early treatment is critical. “Sometimes there is a small window,” he said. “If you miss it, outcomes are never the same.”
For Prof. El-Hattab, the impact of diagnosis goes beyond treatment alone. Some families, he said, stop having children out of fear, lacking clarity about genetic risks. A confirmed diagnosis can change that trajectory, enabling informed family planning through genetic counselling and embryo testing.
“When you name the condition, you change everything,” he said. “You change care. You change prevention. And sometimes, you give families choices they did not know they had.”
