Written By: Longjam Dineshwori | Updated : February 7, 2021 9:00 PM IST
Children with Hunter syndrome may have delayed speech and language problems. (Representational image)
Two minor brothers suffering from Hunter Syndrome or Mucopolysaccharidosis II or MPS II have approached the Delhi High Court seeking direction to the Centre and AIIMS to provide them free treatment.
Hunter syndrome is a rare genetic disorder in which the body cannot properly break down certain sugar molecules that builds bones, skin, tendons and other tissues. Over time, the buildup of these large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) can cause permanent, progressive damage to the organs and tissues. This can affect the patient's appearance, mental development, organ function and physical abilities. The disorder mostly occurs in boys.
The two children, who are two and three years old respectively, have filed separate petitions through their father Ravi Jhawar. According to their petitions, they started facing difficulties and certain changes in their bodies including delayed speech and language problems from September and December 2019, respectively. They were examined by doctors at the Sir Ganga Ram Hospital and AIIMS, who confirmed that the two brothers were suffering Hunter Syndrome.
While the treatment of the rare disease is available at the AIIMS, currently no medicine for the disease is manufactured in India and only two companies in the USA and Korea manufacture it. As mentioned in the petition, the doctors told the father of the children that the annual cost of treatment for each patient would come between 80 lakh to one crore. Since their father's income is nominal, the petitioners noted that they wouldn't be able to bear the cost of treatment. Therefore, they want the Centre and AIIMS to provide continuous and uninterrupted treatment free of cost.
After hearing the matter, Justice Prathiba M Singh directed the Ministry of Health and Family Welfare and the AIIMS to obtain instructions on how the two children will be provided with the treatment. Next hearing on the matter is scheduled on February 19. On the same day, the court will hear various other pleas filed on behalf of several children suffering from other rare diseases.
A missing or malfunctioning enzyme is thought to be the cause of this inherited genetic disorder. This happens when a child inherits defective chromosome from the mother. The enzyme iduronate 2-sulfatase helps break down complex sugar molecules in the body. Patients with Hunter syndrome do not have enough of the enzyme, which results in buildup of these molecules in harmful amounts.
Signs and symptoms of Hunter syndrome often start appearing around ages 2 to 4. According to Mayo Clinic, signs and symptoms of Hunter syndrome may include:
Unfortunately, currently, there's no cure for Hunter syndrome. Treatment focuses on managing symptoms and reducing complications.
Hunter syndrome is an X-linked recessive disease, which means the defective disease-causing X chromosome is passed on from mother to her children.
Because girls inherit two X chromosomes, they have lower chances of developing this disease. If one of the X chromosomes is defective, there's another X chromosome to compensate for the problem. This is not the case in boys, and thus they have higher risk of developing the disease.
If you have a genetic disorder or a family history of genetic disorders, it is advisable talk to your doctor or a genetic counsellor before planning a baby.
With inputs from PTI
