Despite availability of funds, patients with rare Fabry Disease yet to be given treatment, says support society

Source: The post is based on the article “Despite availability of funds, patients with rare Fabry Disease yet to be given treatment, says support society” published in The Hindu on 1st May 2023

What is the News?

Lysosomal Storage Disorders Support Society has sought the Union Ministry of Health and Family Welfare’s immediate intervention for the treatment of Fabry Disease patients.

It has asked the government to issue necessary guidelines to provide equal weightage to all notified rare diseases including Fabry Disease under the National Rare Diseases Policy, 2021.

What is Fabry Disease?

Fabry disease is a rare genetic disorder that is part of a group known as lysosomal storage diseases. 

Caused by: The disease is caused by low levels of an enzyme called alpha galactosidase-A due to a problem in the genes. This enzyme is needed to break down fatty substances. The specific genes that create the enzymes are faulty.

– Due to this, the enzyme cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body.

– This allows lipids to build up to harmful levels in the body’s autonomic nervous system (the part of the nervous system that controls involuntary functions such as breathing and heartbeat), as well as in the eyes, kidneys, and cardiovascular system.

Vulnerable Group: Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. 

– However, some women do have symptoms. Women may sometimes be as severely affected as men too.

Cases: Fabry disease affects around 1 in 40,000 people worldwide. 

– In India, Fabry is one of the rare diseases notified under Group 3(a) of the National Policy for Rare Diseases, 2021.

Treatment: There is no cure for Fabry disease. There is medication to treat the condition.