Kurnool records rare case of genetic disorder

6-year-old is diagnosed with mucopolysaccharidoses, a rare disease, for which medicines cost ₹47 lakh a year

May 15, 2022 08:12 am | Updated 08:12 am IST - KURNOOL

A practising neurologist K. Hemanth Kumar has come across a case of a life-threatening rare disease-mucopolysaccharidoses (MPS Type-I) in a 6-year-old female (name withheld) from Budhwarpeta in Kurnool.

The daughter of a fruit seller and daily labourer, the girl has been unable to walk even after completing three years of age, he said, adding that the girl also had a small increase in the circumference of her head.

Her parents visited many hospitals, but different symptoms began to emerge at a slow pace. Following several investigations and laboratory tests, it was established that the girl was having Type-I mucopolysaccharidosis, said Dr. Hemanth Kumar.

“There is treatment available for this genetic disease but it is expensive as the girl has to be given an enzyme injection every week all her life. The injection doses cost close to ₹47 lakh per year,” he explained.

Awareness needs to be brought among people about such diseases for early detection. Every May 15 is observed as the International MPS Awareness Day. There are nine such types of MPS health conditions that arise out of consanguineous marriages, he explained. Only five of them have medicines but those are unaffordable. Some of them have no medicine at all.

“Many genetic disorders are being noticed in areas close to Karnataka border in Adoni revenue division,” he said. Seven more cases of different genetic disorders like spinal muscular atrophy were reported from this region, he added.

In the case detected in Kurnool, doctors noticed stunted growth and circumference of head increasing along with developing of umbilical hernias. Some of the other symptoms include: abnormal spine, inability to fully open the fingers (claw hand), cloudy corneas, deafness, halted growth, heart valve problems, joint disease, including stiffness, intellectual disability that gets worse over time in severe MPS I and thick, coarse facial features with low nasal bridge.

The Government of India had included it in its strategy in 2017 to tackle the rare diseases, but financial constraints have left many gaps in implementation, Dr. Hemanth Kumar explained.

The aim of the programme is to lower the incidence and prevalence of rare diseases like MPS based on an integrated and comprehensive prevention strategy encompassing awareness generation, premarital, post-marital, pre-conception and post-conception screening, and newborn screening programmes, and counseling to prevent births of children with such rare diseases like the MPS.

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