Waterlooville youngster is one of 100 people across the world to have this rare disorder

Share this article
0
Have your say

A SIX-YEAR-OLD from Waterlooville is just one of no more than 100 people across the world who have a rare disorder. 

Jensen Pearce has Desanto Shinawi Syndrome – a genetic disorder caused by the mutation of a gene – which was only discovered in the last few years.

Jensen Casey (6) was diagnosed with a rare condition called Desanto-Shinawi Syndrome in April 2019. ''Picture: Sarah Standing (111119-1655)

Jensen Casey (6) was diagnosed with a rare condition called Desanto-Shinawi Syndrome in April 2019. ''Picture: Sarah Standing (111119-1655)

His mum Kerry is trying to raise awareness of the disorder and raise money for more research.

The-mother-of-four said: ‘A few years ago after we noticed a few things that were a bit different, Jensen was part of the 100,000 genomes trial in the NHS and that is how we got the diagnosis.

‘We, like everyone we know, had never heard of it but it is a bit like Down Syndrome in terms of it being a gene mutation. Jensen has some learning difficulties and speech difficulties, which we think is because of his weak muscle tone so he can’t produce the sounds he wants.

‘There could be other symptoms as he grows up but there isn’t enough known about it yet.’

Kerry Pearce with son Jensen Casey''Picture: Sarah Standing (111119-1679)

Kerry Pearce with son Jensen Casey''Picture: Sarah Standing (111119-1679)

Kerry became part of a social media group with parents from across the world as well as Dr Shinawi, who is researching the disorder.

She said: ‘I became part of a Facebook group with parents from around the world and Dr Shinawi himself which is really great because we can tell him the symptoms that are happening and we can also chat to other parents thanks to the translate feature which is amazing and connects us to people in Argentina and the Netherlands.

‘When you look at Jensen it isn’t obvious that he has a disorder but when I started to see other people in the group post pictures of their children it was strange because they all look really similar.’

Features of the disorder include larger forehead, furry eyebrows and flatter noses.

Kerry added: ‘We don’t know the exact future for Jensen but we know that he will never be able to leave home and we will have to look after him.’ 

‘I just want more people to know about the disorder even if it helps one person think that could be their child. It can be a lonely place but the group are so helpful.’