A rare reality

A rare genetic disorder, Gaucher’s disease is treatable, yet high costs and lack of awareness about it act as roadblock and prevent access to a normal and healthier life

Sixteen-month-old Harshini’s constant ill-health had left her parents worried and helpless. What started with a bout of pneumonia at the age of 10 months spiralled into a continuous complication. The doctors in her village could find no problem with her till finally she was bought to the City and was diagnosed with an enlarged spleen. Further tests revealed that she had a rare genetic disorder — Gauchers disease.

Though Gauchers disease is treatable, the high cost has left her parents helpless. Harshini’s parents have been trying to reach out to the government through various forms of media to seek financial assistance for her treatment.

Gauchers disease

Gauchers disease is said to be a genetic storage disorder that affects 1 in 50,000 to 1 in1,00,000 people. The disease got it’s name from Dr Philippe Gaucher, who was the first to describe the symptoms of the ailment.

According to Dr Sharmila Asthana, consultant paediatrician, Apollo Hospital, “Gauchers syndrome is rare to find. A person may get this disorder if both the parents are carriers hence it is known as an autosomal recessive. If both are carriers, there is a 25 per cent chance that the child will have the disease. There is a 25 per cent chance that they will not get the disease and a 50 per cent chance that though they may be a carrier of the disease they will not get affected by the disease.”

Gauchers disease is a storage ailment which occurs in the absence or scarcity of an enzyme known as Glucocerebrosidase an enzyme that breaks down the lipids or fats. As the production of the enzyme is low the lipids get deposited in different parts of the body such as the spleen, liver, bone etc and affect that part of the body.

Types

There are three types of Gauchers disease. Explains Dr Sharmila, “Type 1 is the most common. In this the brain does not get affected. The symptoms for the same can be noticed at any time from childhood to adulthood. This form of Gauchers is treatable.” The symptoms for Type 1 include bruising (due to the lowering of platelet count), anaemia, thinning of bones, fractures, lung and kidney ailments. Dr Sharmila mentions that in case the ailment is mild there are a few symptoms but in a more serious case, problems such as enlargement of spleen and liver can be noticed. In such a situation, the prognosis is bad. The treatment for Gauchers disease involves enzyme replacement. “This replacement is not available at all centres and is quite expensive as the enzyme has to either be made genetically or synthetically,” she says.

The second type of Gauchers disease is the worst. Dr Sharmila says, “This type occurs mostly in babies. It may show up as early as one to three months. The ailment rapidly advances and in many cases the child will not survive beyond two years of age. Unlike the other types, this type may affect the brain and cause mental retardation. Once brain damage occurs many more problems may crop up.”

The third type is a chronic form of the ailment. This may affect the nervous system and the brain. Dr Sharmila says, “This is not as rapid as Type 2. The symptoms for the same can begin from childhood to early teens. In such a condition enzyme replacement is advised although treatment for problems relating to the nervous system cannot be provided.”

Diagnosis

Gauchers syndrome affects both men and women. Dr Sharmila says, “It is not that the ailment is unheard of in India. There are cases but Type 1 is the most common type. It is said that it is more prominent in people of Jewish origin as consanguineous marriages are higher among them.” Dr Sharmila says that when it comes to the diagnosis of Gauchers, a number of tests are conducted.

She says, “When children are unwell and show symptoms a number of tests are conducted on them such as blood tests, bone marrow aspiration. With the help of bone marrow aspiration they will be able to find out that there is a deficiency of the enzyme and also the deposition of the lipids.”

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Category: Health, Health News