International Gaucher Day - The Strange Effect of Gaucher Disease

By: Milton, Diamond

Published On: September 30, 2021

Gaucher disease is a rare genetic disorder that affects approximately 1 in 50,000 births worldwide. In India, there are fewer than 10 lakh cases per year, making Gaucher Disease a rare diagnosis. 

International Gaucher Day (IGD) is celebrated on the 1st of October every year to spread awareness around Gaucher disease. The theme for this year is ‘Early diagnosis, better lives’ - with its focus on campaigning for earlier diagnosis of Gaucher disease which can improve the patient’s quality of life.

This blog will discuss everything about Gaucher disease, treatments available and its cost and how crowdfunding can play an important role in the same:

What is Gaucher disease?

Gaucher disease is characterized by a deficiency in enzyme glucocerebrosidase, the function of this enzyme is to metabolize or break down a fatty substance known as glucocerebroside. 

In the absence of this enzyme, large amounts of glucocerebroside accumulate within certain organs like the liver, spleen and bone marrow. This causes enlargement of the organs and also disrupts their normal functions. People who have Gaucher’s disease can have a distended belly, skeletal abnormalities, and even blood disorders

There are three types of Gaucher disease, type 1 is the most common form of the condition- affecting 90% of patients, it occurs in either childhood or during adulthood. Type 2 of Gaucher's disease occurs in infants while Type 3 occurs in early childhood. 

How is Gaucher disease caused?

Gaucher disease is caused by a defect in the GBA gene which is responsible for encoding the enzyme glucocerebrosidase. Gaucher disease is passed on to children through an autosomal recessive pattern which means that a child may only get the disease if they inherit the defective gene from both parents. Such parents act as carriers of Gaucher disease and show no symptoms since they carry a single defective gene. 

How is Gaucher disease treated?

While there’s no complete cure for Gaucher disease as of now, a variety of treatments can help manage symptoms, prevent irreversible damage and improve quality of life. Here are a few treatments that are currently available for Gaucher’s:

  • Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) is one of the most effective ways to treat Type 1 Gaucher’s disease. This therapy balances low levels of enzyme glucocerebrosidase with a modified version of the same enzyme. This can help in breaking down glucocerebroside- the fatty substance which accumulates in the body of patients with Gaucher disease. 

ERT is a lifelong therapy and is administered intravenously (through a vein) once every two weeks, depending on the individual. 

  • Substrate Reduction Therapy

Substrate reduction therapy (SRT) works differently than ERT because it aims to reduce the amount of glucocerebroside produced in a patient’s body instead of replacing it. SRT is available as an oral medication which many patients find more convenient than ERT infusions. However, SRT is not approved for use in children or teenagers.

  • Bone Marrow Transplant

In this treatment, blood-forming cells that have been damaged by Gaucher disease are removed and replaced. Because this is a high-risk approach, it's performed less often than enzyme replacement therapy and is reserved for patients with severe symptoms or the ones who are not eligible for other treatments.

What is the cost of such treatments?

Enzyme replacement therapy (ERT) is available in India and costs around Rs 40 lakh to Rs 1 crore per year depending upon the weight of a child. It is an expensive treatment for which drug vials need to be imported from abroad and the cost of treatment increases as the child grows in age. 

Similarly, the average cost of a Bone Marrow Transplant may range from Rs 10 lakh to Rs 40 lakh in India. 

ERT is a life-long treatment but because of the high cost many patients are not able to afford the treatment. Existing symptoms of such patients worsen over time and it also puts them at a higher risk of death. 

How crowdfunding can help?

A solution to this problem of arranging funds is crowdfunding. Online crowdfunding usually involves groups of people from different parts of the globe who donate to fundraisers or causes that they care about ranging from medical, personal and social. 

For the past few years, donors on ImpactGuru have helped more than 20,000 patients raise funds for their medical expenses. Many patients suffering from rare diseases like Gaucher’s disease, SMA, DMD and Pompe disease have been able to raise crores of rupees to get their treatment on time with the support of well-wishers from around the country.  Since crowdfunding involves a no-payback policy, there is no burden of debts on the patient or their family. 

Here is an ongoing Gaucher Disease fundraiser on our platform:

Little Hamza’s battle against Gaucher

2 year-old Hamza has been fighting Gaucher disease which has made his belly three times the size of his tiny body. Doctors have recommended Enzyme replacement therapy for little Hamza  which would cost approximately Rs 37.95 lakhs. 

Hamza’s parents are daily wage labourers who barely earn enough to arrange 2 meals per day, they would never be able to afford such a huge amount on their own. With the support of over 2,400 donors, Hamza’s parents have managed to raise Rs 33.39 lakh as of now. With continued support, they can help Hamza get his treatment as his condition is deteriorating day by day. 

On the occasion of International Gaucher Day, you could raise awareness on this disease by promoting Hamza’s story on social media or by donating to his fundraiser here!