Eight-year-old Grayson is one of only 11 people worldwide diagnosed with a unique genetic mutation. His journey began with an autism diagnosis in early childhood, which led to blood tests uncovering this rare condition.
Grayson, now eight, had blood tests following his autism diagnosis as a toddler. His geneticist examined various markers, including physical traits like his nose, hair, and extremities. Last year, the family received unexpected news: Grayson has a Shank2 single nucleotide duplication, a rare genetic mutation that alters his gene’s DNA sequence.
Rhiannon Bourne, Grayson’s mother, acknowledges the uncertainty of the mutation’s impact due to the lack of research. Despite his learning delays, she is committed to supporting Grayson throughout his life.
Rhiannon, a business owner from Derby, expressed her initial shock upon learning about Grayson’s diagnosis. She sought to understand the condition better by researching others with similar diagnoses, curious about gender prevalence and Grayson’s potential future. She regretted not discovering the mutation earlier, which might have eased Grayson’s integration into school.
Rhiannon discovered her pregnancy in 2014 and welcomed Grayson on June 15, 2015. Despite not showing typical signs of autism, Grayson’s diagnosis at age two provided clarity for his educational support. Rhiannon noted Grayson’s good eye contact and lack of rigid routines, emphasizing his unique communication challenges.
After Grayson’s autism diagnosis, his geneticist, a specialist in genetics and heredity, enrolled him in a whole-genome sequencing trial through the NHS Genomic Medicine Service. In August 2023, Rhiannon received a letter requesting an appointment for Grayson.
Rhiannon was shocked to learn at the genetic clinic that Grayson had a single nucleotide duplication, altering his gene’s DNA sequence. The diagnosis was delayed due to the Covid-19 pandemic. She expressed uncertainty about the mutation’s effects because of its rarity. Rhiannon plans to monitor Grayson’s development closely and is committed to providing lifelong care for him.