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  • 07/06/2024
An eight-year-old boy is one of just 11 people in the world with a rare genetic mutation.

Grayson, now eight, was put forward for blood tests when he was diagnosed with autism as a toddler.

He was then put on a trial after a meeting with his geneticist who looked at his genetic markers - including his nose, hair, feet and hands.

His family thought no more about it until they got a letter back last year to say he also has a single nucleotide duplication called Shank2.

This means he was born with a rare genetic mutation which changed the DNA alphabet within his gene.

His mum Rhiannon Bourne, 29, said there is "no way" of knowing how the mutation will affect Grayson in the future because there is no research into it.

Grayson is delayed in his learning and Rhiannon said she is prepared to care for him for the rest of her life.

Rhiannon, a business owner, from Derby, Derbyshire, said: "I was shocked when I first found out.

"But I was interested to find out more about the other people with the same diagnosis, to see if they were like Grayson.

"I was keen to know if it was more common in one sex than the other and what Grayson's future may look like.

"I was also frustrated. If we had been able to find out when he was younger his journey into school might have been easier."

Rhiannon found out she was pregnant with Grayson in 2014 after a period of feeling unwell.

He was born on June 15, 2015 weighing 6lbs 14oz. After five days, Grayson and Rhiannon left the hospital and went home.

Rhiannon said Grayson didn't have the "typical autism traits" and said it was a "relief" when he was diagnosed with it at two years old in 2018 so he could support at school.

She said: "He gives good eye contact. He is not set on a routine.

"He doesn't do anything to assume he would have autism, he just doesn't have great communication."

After he was diagnosed with autism, his geneticist - scientist who has special training in the study of genes and heredity - put him on a whole-genome sequencing trial - a type of genomic test available in the NHS Genomic Medicine Service.

In August 2023, Rhiannon got a letter through the door asking her to take Grayson for an appointment.

Rhiannon said she was "shocked" when she arrived at the genetic clinic to find out that Grayson had single nucleotide duplication - a change in the DNA alphabet within the gene.

Due to delays with Covid-19 Rhiannon said that it took a long time to get the diagnosis.

She said: "We don't really know how this will affect Grayson as there are not many people who have been diagnosed with the mutation.

"We're going to watch what happens with Grayson and see what it brings.

"One thing we do know is that he will always need care and my personal opinion is that I will always be the one to provide him with the care."

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Transcript
00:00I thought I would talk about this comment whilst I get ready about how I feel about the fact that
00:03one of my children will probably live with me forever. In context one of my little boys has
00:07additional needs and he also has a rare genetic condition that only 11 people in the world have
00:11been diagnosed with. This can be a touchy subject for some special needs parents but I'm fine to
00:16talk about it. Now unlike my parents when I fell pregnant at 19 I decided to make the decision to
00:21be a parent for life and obviously at the time I got pregnant I didn't know he was going to be born
00:25with additional needs. There were definitely things when I was pregnant and they were having scans
00:29that they knew weren't quite typical with Grayson. The things that they thought that they could see
00:34wrong with him in the scans are nothing that he has an issue with now. He was born prematurely,
00:39he was actually born seven weeks early. He basically never hit a milestone on time. He's
00:44forward almost nine years and he now attends a special school. He does so much more than I ever
00:48thought he would but will he ever lead a typical life I guess is what people are asking and that's
00:53probably the concern of a lot of special needs parents. The things that I think special needs
00:57parents think about the most is what will happen to my child when I'm no longer here. I'm in a very
01:01fortunate position that I had Grayson when I was very young. I say fortunate because if I make it
01:05to 80 he will be 60. I will and always have made sure that I would put my children as my main
01:12priority and for me and Grayson that means that I will always be his primary caregiver. When I was
01:17younger I struggled with the idea that I wouldn't necessarily get my life back because I was always
01:21told when you have children young you get your life back in your 40s and I now know that that's
01:25something that isn't going to happen for me because Grayson will be with me forever. There is obviously
01:30options for people with additional needs where they can live in assisted living accommodation
01:33where they've got carers all the time. It just isn't something that I would ever consider. Whilst
01:38I'm well enough to look after him I will always do that. So I guess essentially I don't have any
01:43feelings on it because this is just what my life looks like. It's what I signed up for when I
01:48became a parent. My main worry is what if something happens to me and I can't control that so I try not
01:55to worry about it. I just see it as I've got a best friend for life. I always joke that if I need
02:00to go to a care home when I'm 80 that Grayson will be 60 and he can come too. I just choose
02:04not to worry about things that I can't control right now.

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