A local primary school has come together to recognise the experiences of a six-year-old pupil living with an extremely rare genetic condition.
Bratton Primary School marked Rare Disease Day on Thursday 26th February, a day dedicated to raising awareness of rare conditions and the children and families affected by them.
Pupils and staff took part in activities, including wearing stripes to show support and celebrate difference in recognition of Year 1 pupil Rupert, who lives with Snyder-Robinson syndrome.
At just nine and a half months old, Rupert was diagnosed with a rare form of epilepsy. At 15 months old, he was then diagnosed with Snyder-Robinson syndrome, an extremely rare condition.
“At his worst, Rupert was suffering up to 40 seizures a day, and by his first birthday he had endured months of constant seizures,” said Rupert’s mum Amy. “Those early months were frightening and uncertain, filled with hospital visits, sleepless nights, and many unanswered questions.
“Eventually, doctors were able to gain seizure control, but Rupert’s diagnosis changed our lives forever and led to further investigations. Rupert underwent an MRI scan, as at one point there were concerns that he may have tumours on his brain. He later had a spinal tap and further MRI scans, but still no clear explanation for what was causing his symptoms.
“It wasn’t until extensive genetic testing was carried out that we finally received answers.”
Since the condition was first identified in 1969, less than 150 people worldwide have been diagnosed, and Rupert was the third child in the UK to receive this diagnosis.
“Due to the complexity of the condition, some children with Snyder-Robinson syndrome sadly do not make it to adulthood – a reality many families living with rare diseases must face,” said Amy.
“Snyder-Robinson syndrome can affect many parts of the body, including the heart, lungs, kidneys, brain, bones, muscle strength, development, and energy levels. Every child with this condition is affected differently, and all experience some level of intellectual disability, ranging from mild to severe.
“While Rupert may look just like his peers, he faces challenges that aren’t always visible, and having the right support around him helps him thrive.”
Rupert is cared for by a dedicated team of specialists who help manage his complex needs. This includes a neurologist for his brain and development, a nephrologist for his kidneys, an endocrinologist who helps with bone health and growth, and a specialist paediatric consultant.
“We would like to take this opportunity to thank everyone at Bratton Primary School who has opened their hearts and minds to Rupert,” said Amy. “The kindness, compassion, and inclusion shown to him and our family mean more than words can express. All we want as his parents is to give Rupert the most amazing life possible, and having such a supportive and caring school community beside him helps make that possible every single day.”
