Amazing nine-year-old smiling through rare genetic illness

When he was seven, he was diagnosed with Angelman syndrome after a two-and-a-half-year study into his parents’ DNA.

Angelman Syndrome is a rare genetic disorder that affects around one in 20,000 babies born each year with children experiencing delayed development, severe learning difficulties and little or no speech as well as issues with movement and balance.

It is named after Warrington paediatrician Harry Angelman, who identified the syndrome after three children with different disabilities were admitted to his ward in the 1960s, and he believed there was a common cause for their illness.

Dr Harry Angelman, who identified the syndrome in the 1960s

Today – Wednesday, February 15 - is International Angelman Day, which is part of International Rare Disease Month, with the 15th being significant as it refers to the chromosome impacted by Angelman syndrome.

The Town Hall will be lit blue tonight to raise awareness of the condition.

Lewis is a busy youngster who goes to Green Lane Community Special School where he enjoys learning with his friends.

He has additional sensory needs which means he struggles with food and he finds it difficult to sleep at night.

The in-depth scientific investigation four years ago, as part of the 100,000 genomes project, was like “looking for a needle in a haystack” but since the diagnosis, mum Natalie, who started a social media page to raise awareness of the rare genetic condition, said Lewis is settled and making good progress.

Lewis and mum Natalie

Natalie, who is 30, said: “The study into our DNA took more than two years and it’s like a spot the difference competition looking at three different lots of information.

“After the diagnosis, we were advised by several doctors and nurses to keep a blog but everything was unknown and I didn’t feel like I was qualified to be talking about Angelman syndrome.

“But Lewis has come a long way since then and settled into school.

“He has worked so hard working towards his targets and we still have so much to learn and explore.”

Natalie says Lewis is mischievous but struggles to sleep and despite his happy personality he also suffers from anxiety.

His Facebook page is run by Natalie and it shows his journey with Angelman syndrome.

Lewis is always smiling

She posts when she can and tries to keep things positive but does highlight some of his struggles.

She said: “We’ve had a few meetings with professionals about how to support Lewis because he’s extremely anxious despite being so happy and smiley.

“He’s been living his best life going to watch theatre shows and he enjoys going out for walks and being outside.

Lewis has been enjoying his trips to the theatre especially Peter Pan earlier this year

“He particularly likes anything messy especially painting and gluing!

“Lewis’ anxiety has caused him to be sick which leads to cyclical vomiting where he literally can’t stop.

“His communication has also been difficult as he is non-verbal and uses Makaton sign language and a pragmatic organisation dynamic display (PODD) book to communicate.

“We’re hoping to take part in an iPad trial which will help his voice.

“He manages to spread so much happiness with his smile.”

For more information visit Lewis’ Facebook page or visit www.angelmanuk.org