Recent studies indicate the average estimated prevalence of rare diseases is 40-50 cases for every 100,000 people globally. There are approximately 5000-8000 rare diseases, but only 400 of them affect 80 per cent of all patients. As per clinical trials in 2019, rare diseases in India affect under 500,000 people. One of India's most common but rare metabolic disorders is Gaucher disease (GD), an inherited condition classified under 'Lysosomal Storage Disorders' that affects 1 in 50,000 people worldwide.  

Understanding the disorder

Clinically, GD is classified as type 1, type 2 and type 3 Gaucher disease, based on the presence or absence of neurological features and the type of mutations in the gene. Globally, type 1 affects more than 90 per cent of all GD patients.  In India, there is a higher prevalence of type 3 and type 1. Therefore, it's crucial to diagnose and manage GD in a timely, optimal manner to avoid disabling and potentially life-threatening complications.

Management of GD requires a multidisciplinary approach involving a genetic disease specialist, hematologist, gastroenterologist, pediatrician, neurologist, occupational therapist and orthopedic surgeon. Specific therapy for the systemic manifestations of GD1 and GD3 is possible via enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) for GD1.

Based on periodic intravenous transfusions every 14 days, ERT has transformed the natural course of GD in patients. Long-term ERT is based on a multidisciplinary team's proper selection of GD patients after detailed discussions with the patient and caregivers to ensure compliance. Supportive therapy plays an important role, apart from definitive ERT to correct anemia and nutritional status of the patient, followed by genetic counseling to prevent future affected births. 

Challenges in treatment

A patient's journey covers diagnosis, management, and treatment. But diagnosis being costly and rare, symptomatic patients are misdiagnosed or remain undiagnosed. Worse, diagnosed patients lack the will to get treated due to complications associated with rare disorders. Since GD is not covered by insurance, patients resort to crowdfunding. 

Public awareness must be increased for controlling the disorder, as families and close ones detect the first symptoms. Early adoption of ERT ensures longer life expectancy and near-normal quality of life with no long-term sequelae. Without treatment, patients can succumb by adolescence. If treatment begins early, patients could lead a healthy life. 

Additionally, the cost of treatment is often remarkably high and requires life-long for most patients, which acts as a significant barrier for patients and their families, impeding treatment. 

Government support is imperative

Since GD is a lifelong disorder, patients must follow medical protocols and have regular check-ups. Moreover, counseling for patients and families is essential because GD could have incapacitating symptoms. 

Given the severe challenges, three steps can be considered. First, create a National Rare Disease Registry to manage rare disorders better. Second, permit Neonatal Screening to ensure timely diagnosis. Third, ascertain access to mandatory funding because the treatment of GD is currently left to crowdfunding. 

These steps can ensure that the patients' challenges can be addressed, leading to better health and a brighter future.