Pronoy's story Phelan-McDermid syndrome (PMS) - Jeans for Genes

Pronoy's story

Four-year-old Pronoy was born with a rare genetic condition called Phelan-McDermid syndrome (PMS). This affects his speech, intellectual development and mobility. Pronoy needs repetition to grasp a concept and has low muscle tone, affecting his mobility.

Pronoy was diagnosed with PMS just before his third birthday but his parents Jaya and Pradipto Bagchi, both 38, had noticed something was amiss when he was a newborn baby.

‘Pronoy was a quiet baby and had difficulties swallowing. By the time he was six months old he still could not hold his head up and he needed a lot of motivating to reach out to toys. He developed flatness on one side of his head due to weak muscles, and kept falling behind his milestones, such as crawling or holding to stand up.’

The family was living in New Jersey, US, at the time, and when Pronoy turned one and was still not making sounds or movements in line with his age, they started various therapies to work with his delays. By the time he turned two, doctors in New York still couldn’t explain why his development was delayed.

In 2011 the family relocated to London. By New Year 2012 a geneticist identified the problem was PMS. Children with PMS struggle to communicate and often have no speech at all. They can have intellectual disability and low muscle tone that affects mobility. They also have impaired motor skills and similarities with autism. For Pronoy, it was a ‘spontaneous mutation’ – no one else in the family has PMS, and there are only 600 cases worldwide.

Pronoy has support in the form of speech therapy, occupational therapy and physiotherapy, where he gets challenging play-based exercises. He attends a mainstream nursery, where he has extra help and the staff give him a lot of encouragement to try new games and activities. And he has a full-time nanny, who is his playmate, aide and continues the therapeutic exercises. In addition to finding new environments difficult, Pronoy gets easily frustrated because he can’t communicate. He also has loose ligaments in his ankles which cause balance issues, but he is mobile and now only needs insoles to help him walk. He is not toilet trained, a common trait among children with PMS. He also gets frequent colds, vomiting, chest infections and asthma, which he has been hospitalised with several times.

But his parents are determined to give Pronoy first-hand experiences of life.

‘We like to take him to the park and to the zoo and to all the countries we visit. We recently took him to Paris and he loved that. For someone who gets tired easily, it is amazing that he will keep walking and running when outdoors.’ Pronoy is very affectionate towards others, right from the first instance. He blows a kiss to say goodbye and he watches his favourite Mr Tumble and now Mickey Mouse shows on an iPad by operating it himself.