Dubai: A Kyrgyz expat is desperately seeking help to fund the medical treatment of her 10-year-old son diagnosed with a rare congenital disease.
Dilfuza Usmonova, mother of Askat Mendibaev, said she is in a fix as to how to secure treatment for her son who was diagnosed with the rare condition of Duchenne Muscular Dystrophy (DMD).
The latest quotation received by her and her husband Talgat Mendibaev from a local pharmaceutical trader in the UAE for Askat’s medical treatment exceeded one million dirhams.
The couple, who have another child, a boy (5), called Muaz Mendibaev and is of normal health and condition said they are running helter-skelter to find a cost effective treatment for their son – but to no avail.
What is DMD?
In an interview with Gulf News, Dilfuza said her son Askat was diagnosed with the rare congenital disorder Duchenne Muscular Dystrophy (DMD).
DMD is a fatal X-linked genetic neuromuscular disorder caused predominantly by out-of-frame deletions in the dystrophin gene, resulting in absent or defective dystrophin protein. Dystrophin protein is needed for normal muscle maintenance and operation. Because of the genetic mutations in DMD, the body cannot produce functional dystrophin, which results in progressive and irreversible loss of muscle function, including the heart and lungs. Worldwide, DMD affects approximately one in 5,000 newborn boys.
Dilfuza and her husband have contacted a local pharma trader which received a quotation from the Ministry of Health regarding treatment cost for Askat. Gulf News obtained a copy of the recommended medical treatment, which reads two prices: Four vials of Eteplirsen solution (500 mg) for a day costs Dh32,047.84, for a month costs Dh128,191.35 and Dh1,538,296 (1.54 million) for a year. Sixteen vials of Eteplirsen solution (100 mg) for a day costs Dh6,488.21, Dh103,811.40 for a month and Dh1,245,736.80 for a year.
How Askat was diagnosed with DMD
“My husband and I realised something was wrong when Askat was a child. His milestones were delayed. He crawled late, started walking only when he was 18 months old. His speech too was delayed.”
But Dilfuza said it was a liver diagnosis that led her to do more tests on Askat which eventually led to the discovery that the boy had DMD.
“We really did not find out Askat had DMD the straight way. His stool was getting pale and urine darker. We went from clinic to clinic and they made us do a whole lot of tests. Then we did a liver biopsy where the results came that my son’s creatinine levels were beyond normal range. His CTK levels were 21,000 while the normal range is less than 200.”
The doctor then said that Askat has a liver disorder and that there is no treatment for the same. The only thing they had to do is take care of his diet. So I changed his diet completely. Yet his levels were high. We did a genetic test for glycogen storage disease and it all came negative. A manager at one of the labs we tested Askat advised us to test him for DMD. He [the lab manager] came like a guardian angel. If it was not for his insight our child’s diagnosis would have been further delayed.”
“Human muscles are protected by a layer and a protein called dystrophin generates this layer. However, for Askat, the gene dystrophin is broken and the DNA is unable to read his muscles. We want to raise awareness about Askat’s conditions as treatment for this is very high. If Askat does not get his treatment on time, he will be wheelchair bound in a year’s time as the disease is progressive. Time is ticking for Askat and we would like help with getting the cost of the medicine. This is our last hope,” said the mother, Dilfuza.
It was in 2012, when Askat was just over two years of age, when he was diagnosed with DMD. “Right now he is on hormonal treatment, only walking a little distance. It is hard for him to climb stairs. Every year his muscles become weaker because he is not getting the necessary treatment.”
“What he needs is a protection layer for muscles. Life expectancy for children diagnosed with this disease is 20-30 years without any cure,” said Askat’s desperate mother.
Dilfuza said: “When we received the quote, my husband and I were shocked with the cost of the medication. It will be impossible for us to fund his treatment on our own. Worse, it will be terrible to see him suffer this way.”
Dilfuza works as a general practitioner for a private clinic in Dubai. Her husband works in Dubai as well. “We have basic insurance coverage that does not take care of congenital disorders. So my husband and I are in a deep fix.”
“We are salaried professionals and there is no way we can treat him. We definitely need to find a way to find him an alternative treatment or admit him somewhere, where he can receive the treatment for a low cost.”
Askat is a grade 5 student at a Dubai school. He likes to read, draw pictures and play games like all his friends. He is a bit shy but is a very good looking boy. He dreams of being able to be physically able like his friends. “He asks me every day why he is slower than the rest of the boys. It breaks my heart to give him my answers,” she added.