Sifting the rare, from the common

Rare diseases need to be accepted and addressed and timely Intervention can save a life, writes Dr Udaya Kotecha

Baby Shreya, born to a consanguineous couple, was diagnosed with global developmental delay and epilepsy. Her preliminary investigations suggested a possible mitochondrial disorder. A genetic testing was ordered by the referring clinician with an aim to both, diagnose the disease in this family as well as to contemplate treatment and prevent recurrences.

In the genetic diagnostic test, it was revealed that the child was suffering from a biotin-thiamine responsive basal ganglia disease. Luckily, this is a treatable disorder which requires supplementation of thiamine and biotin that are easily available in India.

Most common rare diseases due to such wedlock are haemophilia, thalassemia, sickle-cell anaemia and primary immuno deficiency in children, auto-immune diseases, lysosomal storage disorders such as pompe disease, hirschsprung disease, gaucher’s disease, cystic fibrosis, hemangiomas and certain forms of muscular dystrophies.

Rare diseases also hide behind the symptoms of common diseases which also contribute to confusion and delayed diagnosis. Once diagnosed, it takes an emotional and financial toll on the family. However, all rare diseases are not the same. There are an ample number of cases being reported to prove that a genetic analysis and gathering family history of a rare disease patient can help in devising a personalised treatment plan.

(The author is clinical geneticist, MedGenome Labs)