"My son is one of 11 people in the world diagnosed with rare genetic mutation"
- 14 days ago
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."
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."