UAE first nation to mark rare diseases day.
In Dubai: A doctor is calling on people who suspect they have genetic disorders in their family to undergo tests before getting married.
"It is not healthy to make all arrangements for a couple to get married and then decide to get the test done. Psychologically, what are the chances the couple will say no [if they test positive]?" said Dr Fatima Al Jasmi, senior metabolic consultant at Tawam Hospital, Al Ain.
She was speaking to Gulf News on the sidelines of the first genetic metabolic conference in Dubai which is targeting primary health care providers, family physicians and paediatricians.
"My advice is to test your children at adolescence [if they suspect genetic disorders], much before they decide even whom to marry," said the doctor.
She said otherwise the psychological burden on families is huge.
"Insurance does not cover genetic diseases. The health problem [of the child] is not the only burden on the family. It is a financial burden, a social burden, a psychological burden," she said.
The doctor said there are treatments for rare genetic diseases, but the costs are enormous.
An enzyme replacement therapy will cost Dh1 million for one child, she said.
The UAE will be the first country in the Middle East to mark International Rare Diseases Day tomorrow, the doctor said.
A special programme will be held at Children's City in the Creek Park for parents and children with rare diseases.
"This is a good place to mix and mingle and exchange information with other families," she said. Specialists will be at hand to explain how to prevent certain genetic diseases, the rehabilitation of the child and special education requirements.
There will also be a religious scholar for questions on pre-natal termination of pregnancies, Fatima said.
Doctors will also explain how to deal with the stress of handling children with special needs.
The doctor said genetic diseases are a huge problem in the UAE.
There are many diseases which are not inherited," said the consultant, noting that it is impossible to test for 7,000 known genetic diseases. The doctor said the pre-marital tests only check for thalassemia beta-major, which is common because of consanguinity. "There are more than 500 metabolic diseases which we cannot check," she said.
The two-day Genetic Metabolic conference has drawn experts from across the globe.
Dr Fatima said there are not enough doctors to treat rare genetic diseases. "There are hardly 1,000 doctors worldwide," she said.
Insurance does not cover genetic diseases. The health problem [of the child] is not the only burden on the family, it is a financial burden, a social burden, a psychological burden."
By Mahmood Saberi