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Early diagnosis is a way to beat Rare Genetic Disorders

Ahmed Khan (name changed), a farmer from west Bengal was married within the family, as per tradition. The couple experienced the unexpected as their first daughter tragically died in her first year. Ahmed was planning another baby and didn’t want to risk again a new life, consulted Dr Atanu Dutta, a leading Geneticist in Kolkata. The previous child couldn’t be investigated properly because of her early demise, but her photographs and videos were available which suspected the disease to be Lysosomal Storage.

Lysosomal storage diseases are rare genetic disorders because of the defects in lysosomal function. It occurs about one in 5000 live births and affects multiple organs. It causes delay in reaching developmental milestones, movement disorders, seizures, deafness and dementia. 

Genetic testing was necessary to screen for carrier status for Lysosomal storage diseases in the couple since Ahmed was planning for another baby. The geneticist referred the case for advanced genetic testing for a confirmatory prognosis at MedGenome where a clinical exome sequencing (genetic test) was followed by an additional family member Sanger sequencing using next-generation sequencing. It was found that both the husband and wife were heterozygous carrier of a pathogenic mutation for Mucolipidosis II which is a progressively debilitating disorder. This affects many parts of the body and individuals with this disorder do not survive past early childhood.

The couple was advised prenatal screening during their second pregnancy. The screening at MedGenome labs found that the fetus was unaffected, as mutations found in the parent were absent in the fetus. The couple continued the pregnancy and had a healthy baby. Screening for the mutations found in the parents in future pregnancies is helpful in preventing such disorders, especially when they have lost one and, in some cases, more t han one child with a severe genetic condition.

There are more than 70 million Indians who suffer from rare diseases such as Ahmed Khan’s first child and 80% of rare disease are genetic and 50% of these affect children and 35% of deaths in patients with rare diseases occur in infants younger than one year old. Early diagnosis and awareness in society in general is the only way we can beat these genetic disorders. For example: People think Lysosomal Storage Disorder is a mental condition, but it is completely different since many organs suffer damage.

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