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Raising awareness of rare disease in children
March 6, 2017, 4:51 pm

Rare Diseases Day, which is annually observed on the last day in February, provides us with the opportunity to raise awareness among health officials and the public about rare diseases, and highlight the impact such diseases have on patients and their families.

With over 6,000 rare diseases reported around the world, and one in 17 people likely to be affected by a rare disease during their lifetime, ’rare diseases’ are apparently quite prevalent.

A rare disease is a condition, often caused by a genetic defect, which affects fewer than 5 in 10,000 of the general population and includes diseases such as childhood cancers, cystic fibrosis and muscular dystrophy. Symptoms of rare disease can often be very serious, making patients very sick or causing disabilities that impact on how long they will live and their quality of life.

The Middle-East region has one of the highest rates of genetic diseases in the world with an estimated 25 million people affected. The number of individuals identified with rare disease is continuously increasing because of high consanguinity in the region and also because of improvements in diagnostic methods at health care centres in the Arab world. 

For instance, in Kuwait, a recent study showed that an average of over 65 out of every 1,000 diagnosed new born babies in Kuwait suffer from genetic diseases. Kuwait also has the world’s highest rate of Bardet-Biedl Syndrome, with1 out of every 13,500 infants affected. Bardet-Biedl Syndrome is a rare genetic disorder, which affects many parts of the body including vision loss, obesity and growth of extra fingers or toes.

According to Lucy Jenkins, director of the Regional Genetics Laboratories and head of service for Molecular Genetics at Great Ormond Street Hospital for Children (GOSH) in London, research underpinned by translation into service is key to unlocking answers to many rare diseases and, in turn, this will help an increasing number of patients from the MENA region.

With 75 percent of rare diseases affecting children and 30 percent of patients with rare diseases dying before their fifth birthday, a major frustration for parents is receiving a proper diagnosis. “In the future, we hope to see more rare diseases and genetic disorders mapped out through research so that clinical scientists can provide proper diagnosis for more families worldwide,” said Dr. Jenkins.

She added, “With the nature of rare disease, it may be that one doctor, or one institution may only ever see one patient with a rare disease and so they don’t necessarily know what symptoms to look for which means children are left undiagnosed and therefore, untreated.”  She went on to point out that at GOSH specialists see children from all around the world, including 1,500 children from the Middle East. “By specialising in treating a number of rare diseases and investing in pioneering research, the cumulative experience builds up over the years, allowing experts at GOSH to diagnose conditions and care for children in a safer and more effective way,” said Dr. Jenkins.

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