Timely diagnosis of rare diseases is important, urge experts

The early diagnosis of rare diseases holds paramount importance, according to experts.

When it comes to rare diseases, like Lysosomal Storage Disorders (LSDs), the role of timely and accurate diagnosis becomes even crucial. This is because delays in the treatment of LSDs not just worsens the disease but makes it even more difficult to manage.

LSDs is a group of around fifty rare inherited metabolic disorders that lead to a build-up of toxic substances in the body due to enzyme deficiencies. All the symptoms of LSDs and their severity depend upon the type of enzyme missing from the body.

Thus, one patient might have seizures and the other blindness or/and deafness, and yet both of them may be suffering from some form of LSD.

"Since the symptoms are not only different for individual patients but often mimic of other diseases, LSDs are either miss or late diagnosed, thereby worsening the patients' condition. This makes the role of treating doctors even more crucial in identifying the signs of LSDs and diagnosing the disease timely," said Dr. Rashmi Kumar, Professor and Head, Department of Pediatrics, King George Medical University, Lucknow.

Adding, "Apart from the symptoms, identifying the high-risk groups during pregnancy, which includes the family history, consanguineous marriage and the age of the parents while conception, makes for another critical part of LSDs diagnosis."

Nevertheless, in a country like India, where most people are still oblivious to common diseases, bringing rare diseases in public discourse calls for engaging all possible channels, and not just the doctors.

According to Dr. InushaPanigrahi, Professor, Genetic Metabolic UnitDept. of Pediatrics, APC, PGIMER, Chandigarh, "Roping diagnostic centres, especially in smaller cities and towns where the awareness around LSDs is considerably low, can be an effective strategy in ensuring its timely diagnosis and treatment. For this, policy-makers and stakeholders need to lend support in their capacity-building for knowledge mobilising, training and infrastructure. Likewise, support-groups can also play an important role in raising awareness around LSDs by facilitating affected children and families to engage and share their experiences."

As far as the treatment for LSDs is concerned, if diagnosed timely, there are options like Enzyme Replacement Therapy (ERT) for some of the LSDs like MPS, Gaucher, Pompe, Fabry, etc. that have shown a positive impact on the life of patients and helped them live almost normal and productive lives.

To realise the diagnostic and treatment goals of LSDs, now all we need is a sustained and focused efforts from the relevant stakeholders towards raising awareness around LDSs and providing required support to healthcare set-ups.