Banbury mum urges parents of children with rare conditions to share their experiences
Jenny Best hopes more families can connect so they do not feel as alone
A Banbury mum whose son lives with an extremely rare genetic condition is encouraging parents in similar situations to find support in each other.
Jenny Best's 14-year-old son Nathan has the rarest form of Prader-Willi Syndrome, a condition which is caused by a fault on chromosome 15.
The syndrome affects multiple systems in the body and can cause low muscle tone, severe balance issues, narcolepsy and, in many cases, an insatiable appetite.
Shortly after he was born, Nathan stopped breathing and was resuscitated before undergoing genetic testing and being diagnosed.
“It was so rare that all we got was the print off off the internet,” Jenny said. “The only reason why our doctor knew to test for it was because he’d seen it a few weeks before in a write up.”
According to the Prader-Willi Syndrome Association, there are a maximum of 2000 people with the condition in the UK and Jenny said Nathan has the imprinting defect, which is believed to account for less than five per cent of cases.
“There’s three different types and Nathan’s got the rarer one of the three,” she said. “I've never met anybody else or spoken to anybody else who’s got the imprinting version that Nathan’s got.”
Nathan has significant mobility problems, is tube-fed because he has no swallow, and uses oxygen overnight due to apnoea.
Jenny gave up work when he was born and has been his full-time carer ever since.
She said with all of the challenges she faces while caring for Nathan, feeling alone as a parent is the biggest.
"Locking the cupboards, locking the kitchen, counting the calories, having the meltdowns over food, physical violence from your child that you love with all your heart. But not having somebody there to talk to that understands that - that's the hardest part."
Jenny expressed her gratitude towards medical and hospice services in Oxfordshire, particularly the Horton General and John Radcliffe Hospitals, and Helen & Douglas House.
“When Nathan fell extremely ill in June 2023 the first call I made was to Helen & Douglas House. They were there from day one,” Jenny said. “From food packages to a shoulder to cry on, they were there every step of the way. I couldn’t have done it without them.”
However, she said she wishes there were other parents she could speak to who can relate to some of the struggles of having a child with Nathan's condition.
"There's nobody in my area that's got a child with Prader-Willi syndrome that I can go and meet up with for a coffee or shout about something to get the frustrations out. And Nathan has never met anybody with the same condition as him as well."
Jenny now encourages more parents in similar situations to connect using tools like social media to help them feel less alone.
She also urges people to educate themselves on rare conditions and spread awareness so new parents have more information than she did when Nathan was born.
"People need to ask questions and learn. Knowledge is power and if everybody could understand what was going on, everybody would support everybody a bit better."