Dubai: In a show of solidarity with more than 250 UAE children with rare diseases and their families on the occasion of Rare Disease Day, the Shaikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences held an open day on Thursday at Children’s City, Creek Park, Dubai.
On and around February 28, hundreds of organisations from more than 60 countries and regions worldwide hold awareness programmes highlighting the slogan ‘Rare Disorders without Borders’.
According to the organisers of the open day, there are between 6,000 to 8,000 rare diseases that have been documented. Patients suffering from these diseases often face difficulties such as delayed or wrongful diagnosis, psychological consequences and inadequate scientific support.
In the UAE, the incidence of rare diseases cannot be ascertained for want of a central registry.
Dr Fatima Bastaki, consultant paediatrician in clinical genetics and metabolism at Latifa Hospital and head of the campaign’s organising committee, said that the Centre for Arab Genomic Studies, a division of the Award for Medical Sciences, has catalogued 350 rare genetic disorders in Arab populations.
She told Gulf News that the actual figure could be two to four times higher. “Due to a lack of nationwide statistical information and given the number of patients with rare diseases, the number will definitely be higher,” she said.
The World Health Organisation (WHO) states that rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15,000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.
Eight out of 10 cases of rare diseases have genetic origins and five to 7 out of 10 cases affect children, Dr Fatima said. “Consanguinity increases this risk, especially as intermarriages between relatives is common in countries like the UAE,” she said.
Patients with rare diseases and their families feel isolated and vulnerable, said Dr Fatima Al Jasmi, Assistant Professor in biochemical genetics at the United Arab University (UAEU). “We need to change the societal attitude towards people with rare diseases and look at inclusion at all levels, from education to labour market.” She recommended natal and pre-marital screenings to check for genetic diseases.
Mohammad Ishtiaq, from Pakistan, whose six-year-old son Sufian has a rare metabolic disorder, told Gulf News that his third and youngest son suffers frequent bouts of high fever. “The doctors didn’t know what was wrong for months. He was diagnosed at two years of age. There should be more research into rare diseases and support services like special education, occupational therapy and medical insurance cover should be introduced. It is a struggle both financially and socially to raise a child without such services.”
In the UAE, the open day was part of a week-long campaign that was rolled out in three phases — mall-wide awareness activities to educate residents about rare diseases, observance of the Rare Diseases Day, and the concluding Zayed Bin Mohammed family gathering at Al Khawanij.
