One of the burdens that rare disease patients often face falls into the financial category, and that’s treatments that come at a very high cost. One patient, a young girl from India who lives with Gaucher disease, has experienced this firsthand. She needs enzyme replacement therapy (ERT), but it comes at the price of Rs 25 lakhs every year (this translates to over $30,000).

To solve the problem, the Chittoor district petitioned to have the government pay for the girl’s treatment. This petition made it to the Andhra Pradesh High Court, which then recommended that the government foot the bill.

The High Court’s Decision

Because the girl and her family were unable to afford the astronomical cost of ERT, they approached the Andhra Pradesh High Court and asked if the government could pay for the medication. They cited the Constitution’s granting of the right to live as the reasoning behind their request.

Within the discussions and arguments presented to the court, the girl’s counselor, the state’s government pleader, and the assistant solicitor general all made their own points for their cause. The petitioner’s counselor, Gundapu Rajesh Kumar, pointed to the high cost and previous instances in which the government paid for treatment as the reasons behind his case. On the other hand, the other two argued that Gaucher disease is not on the YSR Aarogyasri, and that the state does not have the resources to pay for ERT.

In the end, the high court sided with the young girl, recommending that the government pay for her ERT. They cited the Constitutional reasoning that the petitioner brought to them, as well as decisions made by the Kerala High Court and Delhi High Court, which also directed the government to pay for treatments.

This is a very positive step forward for the young girl, as it means that she will be able to receive the treatment she needs. However, her situation points to a larger problem: access to medication. Rare disease patients need to be able to afford and access treatments once they’ve been developed, and at times, these astronomical prices stand in the way.

About Gaucher Disease

Gaucher disease is a lysosomal storage disorder. The enzyme beta-glucocerebrosidase has extremely low or no activity, and it leads to the accumulation of a lipid called glucocerebroside. This buildup causes damage to the tissue and organs. The GBA gene is mutated in those who have this disease, and it is responsible for the production of beta-glucocerebrosidase. It is passed down in an autosomal recessive pattern, meaning a child must inherit the mutated version of the gene from both parents. The incidence of the general population is one of every 60,000 people, but it is more common within the Ashkenazi Jewish population.

Gaucher disease comes in multiple different types, which vary in symptoms and severity. Type I is characterized by an enlarged liver or spleen, anemia, easy bruising, and various bone issues like pain, fracturing, and arthritis. Lung disease is a less common symptom of this type. Types II and III affect the central nervous system (CNS), and they present all of the symptoms of type I. Along with these effects, those with types II and III may also experience unusual eye movements, seizures, and brain damage. Type II is the most severe of the three, as it progresses rapidly and is fatal. While many symptoms are present in all types, it is important to remember that different individuals present various symptoms with differing severity.

Find the source article here.