Dr Mamoun Elawad (sixth from left) with his team at Sidra’s Gastroenterology clinic.
The importance of increasing awareness in Qatar about disorders that affect a small percentage of the population mainly due to genetic causes has been emphasised as the ‘International Rare Disease Day’, which is being marked today.
However, lack of knowledge about such disorders is not limited to Qatar and it’s a challenge faced by other countries as well, says Dr Mamoun Elawad, Division Chief of Gastroenterology , Sidra Medical and Research Center.
“People only get to know about it because either they have a rare disease or a family member of a close friend. However, this isn’t only limited to Qatar – it is a wider challenge everywhere. This is why acknowledging and supporting initiatives like Rare Disease Day are important,” he told The Peninsula.
A rare disease, also referred to as an orphan disease, is any disorder that affects a small percentage of the population. Although the disease may be rare, patients and families share a common struggle.
“I also believe awareness shouldn’t be restricted to the community level – it should also seek to raise awareness among policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases,” said Dr Elawad.
“Supporting such initiatives also helps disease sufferers understand they are not alone in their medical journey and that there are doctors and researchers who are dedicated to providing them with treatment, cures and preventive measures,” he added.
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness among the public and decision-makers about rare diseases and their impact on patients' lives.
“It is crucial to have a day to mark awareness of rare diseases as knowledge is not as widespread in the community. The only way some people know about rare diseases is either because they are living with the condition or have a family member or close friend who has a rare disease. Acknowledging rare disease day can help not only those living with rare diseases but also families, friends and the wider community who can play a crucial role in providing the necessary help and support,” said Dr Elawad. Rare diseases include cystic fibrosis, muscular dystrophies and Mendelian disorders, which are diseases that affect a few people. However, because they are rare, they are usually much more severe, usually appearing in childhood and, without medical intervention, causing loss of life.
Referring to the importance of clinical research in rare diseases Dr Elawad said, “Clinical research is very important whereby research is conducted through which both the physician and the researcher can directly interact with human subjects. In the case of physicians such as my self – it helps us find new and better ways to understand, detect, control and treat the conditions.” “Clinical research also allows us to group patients in a way so that we can study their conditions in a more focused manner – it helps give a wider view of the problems they are experiencing. "Clinical research also helps to find answers to difficult scientific or health questions. Clinical research today may help other doctors in the future screen their healthy patients before they ever develop certain disease,” he added.
