iPhone | iPad
Android
Huawei
The pair tangled while battling for third place behind winner Oscar Piastri of McLaren and Ferrari's Charles Leclerc
KT APPDOWNLOAD
Rare diseases take centre stage
DUBAI - Adnan Master is like any other eight-year-old boy. Like most kids his age, he is hyperactive, loves to talk and hates studying.
Yet, Adnan is far different from most of his peers. On February 4, 2004, Adnan was diagnosed with Niemann Pick-type C (NPC). A fatally inherited metabolic disease, Niemann Pick-type C is a lysomal storage disease, a rare genetic disorder arising from the build up of glycosphingolipids particularly in the Central Nervous System causing structural and functional damage in cells and tissues.
NPC is characterised by eye movement abnormalities and progressive cognitive dysfunction leading to dementia.
Adnan is just one among hundreds of children suffering from rare diseases in the UAE. Since the country has little or no facilities to treat and help rare disease patients, the Hamdan Medical Award launched a five-day awareness campaign on Saturday, February 25. The drive took place at Creek Park and it was announced that February 29 will officially be known as Rare Diseases Day.
The initiative was launched under the patronage of Shaikh Hamdan bin Rashid Al Maktoum, Deputy Ruler of Dubai, UAE Minister of Finance and President of Dubai Health Authority. And the campaign was initiated under the slogan ‘solidarity’.
Dr Fatma Al Bastaki, Consultant Paediatrics, Clinical Genetics and Metabolism, and Head of Paediatric Department at Latifa Hospital, admitted that the UAE has very little resources to deal with rare diseases.
“There are only two doctors who have specialisation in genetic disorders in the country. Reported cases are also very few. Also, there is no proper registry of cases of rare diseases. In 2000, five cases were diagnosed,” said Bastaki.
There are more than 6,000 rare diseases around the world. Eighty per cent of them are of genetic origin and 50 per cent of them affect children. “Due to lack of medical research on such diseases, parents take their children to general practitioners who sometimes fail to recognise the disease. By the time the disease is recognised, it is too late for the child,” Bastaki added. Rare diseases take a toll on a parent’s life, more than it does on the child itself.
Phenylketonuria (PKU) has gripped Emirati mother Dr Asma Kurdi’s family’s life. She lost two of her daughters to PKU and now her son has been diagnosed with the same. PKU is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. According to medical experts, PKU is a treatable disease; if left untreated, the child could become mentally retarded.
Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing.
Dr Kurdi fears to be hopeful. “Sometimes, I wish I was the one infected with the disease and not my children. I do not want to be pessimistic, but I am trying to perceive things in a realistic manner,” she said. Elnaz Zein Ali, an Iranian whose 13-year-old daughter suffers from Methylmalonic Acidemia (MMA) said dealing with the disease has been extremely difficult for his family. “She has to be on life-long medications. She goes to a special school in Abu Dhabi,” said Zein, MMA is a rare hereditary disorder where patients have difficulty breaking down and using certain amino and fatty acids from the food they eat. Zein’s daughter is one of the five persons born with the rare disease in every 10,000 people. Most parents stressed on the fact that treatments and diets for the children are an extremely expensive affair and a lot of aid is required to keep things afloat for these families.
Parents also raised the need for specialised schools for the children, since they find it difficult to follow normal curriculum.
“The main aim of this programme is to create a network of parents who have children suffering from rare diseases,” Bastaki said. “They should not feel like they are alone in this battle. In the next couple of years we want to open a specialised research centre and a learning centre for children suffering from rare diseases. In the mean time more awareness campaigns are required to educate the masses about these diseases.”
Bastaki said more activities will be held across various shopping malls in Dubai (Mall of the Emirates and Mirdiff City Centre) till March 5.
More news from
Transaction includes approximately 86 million shares of Ma’aden and $150 million in cash
Celebrity endorsements rarely carry enormous weight, but the hugely popular Swift is seen as being in a class of her own
Zelenskiy is due to meet with US President Joe Biden this month and will present a plan for ending the war
Brazil has been parched by a historic drought that experts link to climate change and which has sparked what authorities have called a 'fire pandemic'
The ship was crossing the UAE's territorial waters when the medical emergency took place
The win, their third in a row away to their bitter rivals, puts Arsenal on 10 points from four games, two behind champions Manchester City
Generative artificial intelligence uses 30 times more energy than a traditional search engine