Rare genetic diseases like Lysosomal Storage Disorders need to be diagnosed early, which will happen only if awareness increases.

Three years ago, five-year-old Govind began facing problems in performing the most mundane of daily activities like climbing stairs. The muscle pain made it an uphill task. Even a night’s sound sleep became difficult. Govind was close to losing mobility and developing impaired respiratory function. After elaborate diagnostic tests, his baffled parents found that Govind suffered from Pompe disease, one of around 45 rare inherited Lysosomal Storage Disorders (LSDs) that result from defects in the lysosomal function of cells. While a large number of LSDs go undiagnosed and, hence untreated, Govind was lucky enough to be correctly diagnosed and then treated. Today, he leads a near -normal life.

Proper knowledge and understanding of a disease are crucial for cure and management. But when the illness is rare and treatment options limited, spreading awareness becomes doubly important for diagnosis, treatment and management. One such rare group of diseases is LSDs, which include progressive as well as life-threatening ailments such as Mucopolysaccharidosis (MPS), Pompe, Fabry and Gaucher.

LSDs as a category occur among one in 5,000 live births, although the incidence of individual disorders is extremely low. Most patients suffer due to delay in diagnosis mainly because their families are clueless about the reason for their condition. Many others do not receive timely treatment and suffer endlessly. Incidentally, only six of these rare disorders are treatable at present; in case of the others, proper disease management helps ameliorate the symptoms.

Enzyme replacement therapy (ERT) is a known and safe therapy to treat the symptoms and enhance the quality of life. However, it is both lifelong and expensive and so out of reach for most sufferers. The struggle for treatment occurs at a later stage, though. The initial challenge remains diagnosis, which becomes difficult due to low awareness among people as well as physicians.

Not surprisingly, doctors also fail to diagnose LSDs well in time and usually end up treating the patient for other ailments with similar symptoms. The families of patients find it difficult to locate medical facilities and support centres equipped to handle such sensitive cases.

There needs to be a proactive approach to take the initiative in spreading awareness about LSDs. Anyone who knows about such disorders should make their family, friends and neighbours aware of the symptoms and treatment options. In larger cities, with the latest medical facilities, some knowledge about such diseases is more likely and diagnosis may be faster. However, in villages and small towns where healthcare infrastructure and access are lacking, targeted health campaigns are imperative to disseminate information about such rare ailments.

The Government too could also play an important role as its intervention can save many lives. Promoting early and accurate diagnosis and screening programmes for LSDs are viable options. Some programmes to provide affordable treatment should also be established. Rehabilitation programmes and counseling could make patients’ lives less painful. Government-aided research may help discover therapies that offer relief.

Whether the disease is uncommon or common, patients are entitled to receive appropriate treatment well in time. Early detection through proper awareness is, therefore, crucial to treat these disorders and save more lives.

What it's about

In such rare genetic disorders, the cells do not produce enough enzymes to break down waste, leading to abnormal functioning.

Common symptoms include muscle weakness in different parts of the body, developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. The most affected muscles are usually those involved in breathing and mobility. Some LSDs patients may have an enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally. These disorders affect multiple organs, causing progressive physical and/or mental deterioration over time. Some patients with milder forms may survive into adulthood, but others with severe symptoms may succumb in their teens or earlier.