Buldhana’s ‘blue-eyed boy’ diagnosed with rare genetic disorder

Suyesh Khotale has Waardenburg Syndrome, which has led to hearing loss. He has been fitted with cochlear implant and will be able to hear soon

Buldhana’s ‘blue-eyed boy’ diagnosed with rare genetic disorder

Bubbly little Suyesh is literally the blue-eyed boy of the Khotale family. Little did the four-year-old’s parents know that the bright blue colour of their son’s eyes is due to a rare genetic disorder, which has also led to hearing loss.

Suyesh, the first born child of Gokula and Mahadev of Buldhana district in Maharashtra, was diagnosed with hearing loss when he was two. The family was referred to KEM Hospital, Parel, for cochlear implant. This is an established, effective and long-term hearing solution for people with moderate to profound hearing loss.

Buldhana’s ‘blue-eyed boy’ diagnosed with rare genetic disorder

It was at KEM Hospital that the Khotales found that Suyesh has Waardenburg Syndrome, a rare genetic disorder that affects skin, hair and eye pigmentation and in some cases can cause hearing loss.

“We did BERA – a hearing test -to confirm and see the level of hearing loss. It was followed by MRI and CT scan to check if inner ear development is normal. With him being the perfect candidate for cochlear Implant, we recommended the same to his parents,” said Dr Hetal Marfatia, head of ENT department, KEM Hospital.

According to medical literature, Waardenburg Syndrome is often characterised by varying degrees of deafness as well as a white forelock of hair, skin pigmentation loss, in some cases cleft lip and palate and issues with the heart. “Luckily, Suyesh only has blue eyes and hearing loss,” said Dr Marfatia.

Dr Marfatia and team helped Khotale family gather Rs6 lakh for the implant, which was fitted in Suyesh’s right ear on August 16, 2017.

“It is said that some children learn to talk late. We thought our son was one of them. But when we observed that he is not responding to sound, we took him to a doctor,” said Mahadev, a farmer by profession.

The Khotale couple is now eagerly waiting for Suyesh to start hearing and responding to them. “He is an intelligent boy. Due to his deafness, we haven’t enrolled him to a school yet. We wish to send him to school once he starts hearing,” said Gokula.

While Suyesh will be discharged from the hospital on August 20, 2017, it will take a month to switch on the implant for him to start hearing. Explaining the procedure, Dr Marfatia said that the implant stimulates the auditory cortex of the brain which is responsible for processing auditory information over a wide range of frequencies. “Neural response telemetry (NRT) and X-rays are done to check the placement of the implant. Once the device is surgically implanted, we have to wait for the wound to heal before switching on the device,” she said.

Dr Marfatia emphasised that Cochlear Implant for those who do not have any benefits from hearing aids. “Intensive post operative therapy helps habilitation of these children to develop speech and get them in normal stream,” she said.