By Janice Ponce de Leon, Staff Reporter www.gulfnews.com
Dubai: When Ebrahim Zeinali found his three-month-old daughter pale and unable to sleep, he got very scared.
“We found her completely pale, and she was not sleeping at all. At that time, I really got scared because she was three months old and she wouldn’t sleep, not even at night or during the day. It was really difficult at that point,” Zeinali told Gulf News.
Elnnaz, his first-born child, was diagnosed with anaemia, a condition where the body does not have enough healthy red blood cells. But when Zeinali noticed his child’s late development, he knew something else was wrong.
It took them seven years to find out that Elnnaz, now 13, is suffering from methylmalonic acidemia (MMA), a rare hereditary disorder where patients have difficulty breaking down and using certain amino and fatty acids from the food they eat.
Elnnaz is just one of the five persons born with the rare disease in every 10,000 people.
“People don’t know about these diseases because they are rare. Even some physicians don’t know how to diagnose these diseases, [let alone] know how to treat them,” Dr Fatima Bastaki, consultant paediatrics and clinical genetics specialist, told Gulf News at the launch of a five-day awareness campaign on rare diseases at the Children’s City on Saturday.
For the second time in two years, the Shaikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences is organising the campaign, which will culminate on Rare Diseases Day on February 29.
Under the slogan “Solidarity”, Fatima said they would take the campaign a notch higher this time by engaging the public in the discussion.
“This year we will do something special. We’ll go to the Mall of the Emirates and the Mirdif City Centre and we’ll be ready to answer all queries from the public,” Fatima said urging the public to visit their booth beginning today from 10am to 10pm until March 1. More info