Going down a slide at the local park is one of Pronoy Bagchi’s favourite things. As he slides down, his beaming smile shows just how delighted he is. But while most four-year-olds will pick up straight away exactly what a slide is for, Pronoy’s mum Jaya Pal has had to show him over and over again.
Pronoy needs repetition to grasp a concept and in a similar way to autism he finds it hard to understand the world around him. He doesn’t speak, so communication and interaction with other children is difficult. Pronoy has a rare genetic condition, Phelan McDermid Syndrome (PMS), of which there are only approximately 1200 cases worldwide.
Pronoy was diagnosed with PMS just before his third birthday but his parents Jaya and Pradipto Bagchi, both 38, had noticed something was amiss as a newborn baby.
Jaya, a pharmaceuticals project manager, says: “Pronoy was a quieter baby and had difficulties swallowing. By the time he was six months old he still could not hold his head up, 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 like crawling or holding up to stand. There wasn’t anything striking. It was an instinct – something wasn’t quite right. Doctors felt he was just developing slowly.”
The family was living in New Jersey, USA 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 he was making slow progress but still not walking. Doctors in New York ruled out several diseases but could not explain why his development was delayed. Jaya says: “We tried to teach him words but they just didn’t come through. We found the best doctors but nothing conclusive was determined.”
In 2011 the family relocated to London with Pradipto’s work as a finance director for PepsiCo. By New Year 2012 a geneticist in London had found the exact chromosomal deletion that caused Pronoy’s developmental problems, after private consultations. It was just over a month before his third birthday.
Pronoy had a 22q13.3 deletion, which is known as Phelan McDermid Syndrome (PMS). Children with the condition have difficulty communicating, often no speech, intellectual disability, and low muscle tone which affects mobility. They also have impaired motor skills and share similarities with autism. For Pronoy, the genetic disorder was caused by a ‘spontaneous mutation’ – no one else in the family has it.
Jaya says: “The news and prognosis hit us both very hard. We found strength in the stories of other PMS families. We acknowledged that we were doing all the right things and Pronoy was making progress. We just needed to carry on with what we had been doing and do as much as we could to push Pronoy. We knew now we would need a lot of support and for a seemingly long time.”
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 who 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.
Jaya says: “I have worked closely with the nursery to ensure they are using the right techniques & tools to build his communication & play skills. I feel good that he is with other normal children, but it is hard for him in a world without speech. He uses some basic signs to communicate when he wants his favourite activities- like listening to music and reading books, or when he is hungry. It takes longer for him to learn skills that other children pick up naturally, let alone learn a game with several steps or instructions. For example it took quite a few months to teach him to climb up and go down a slide safely. I was so proud of his achievement, how happy he looked. Once he descends he claps his hands continuously. Now he pulls us towards the direction of a park anywhere we go.”
In addition to finding new environments difficult, Pronoy gets easily frustrated because he can’t communicate. He also has loose ligaments in his ankles that cause balance issues, but he is mobile and now only needs insoles to help him walk. He is not toilet trained, a common trait amongst children with PMS. He also gets frequent colds, vomiting, chest infections and asthma, which he has been hospitalised with several times.
His parents are determined to give Pronoy as many first hand experiences of life.
Jaya says: “We like to take him to the park and to the zoo and to all the countries we visit.
He likes being outdoors, travelling by train, bus or boat. 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, and pulls our hand requesting more exploration. I’m really proud of how hard he works. He kept practicing the climbing frame in nursery and can go up and down by himself now. He is driven in his own way.”
Pronoy is very affectionate towards others, right from the first instance. He blows a kiss to say goodbye. And he is a little wizard with electronics. He watches his favourite Mr. Tumble and now Mickey Mouse shows on an iPad by operating it himself.
Any research outcomes to benefit the development of his speech, his cognitive abilities or even tools that would help him to communicate his needs would make a big difference in the quality of life for children like him.
Jaya has been in contact with other families with children with PMS – through the Phelan McDermid Syndrome Foundation UK.
She adds: “Joining the support group has really helped us connect with other families going through the same things. I’m really looking forward to their family day this year so I can put faces to the names of people. As parents we can share experiences about how we cope. Life is busy, challenging and stressful but we have been blessed with Pronoy.”