Max's Story

16-year-old Max is a cheeky, chatty, and animated teenager. He loves Paddington Bear, meeting the Gruffalo at Twycross Zoo, and visiting the theatre with his parents.  Max was a happy, healthy newborn and passed all his early health checks. However, not long after birth, his parents noticed concerning changes. Max was struggling to keep his feeds down, and at just four months old was admitted to hospital for testing. After an 8-week stay, Max was diagnosed with ATRX syndrome – a rare genetic condition only found in males that causes development delays, intellectual disabilities, and distinct facial features. Max has a particularly rare variation of the syndrome, making it even more difficult for specialists and his family to understand his condition and care needs.  Last year, Max developed aspirational pneumonia, resulting in long and frequent hospital stays. During this time, Max’s body began to shut-down and he was no longer able to weight bear. His lungs weakened, he required a catheter, and he became dependent on milk feeds delivered through pumps. Just a few weeks ago, Max underwent a fundoplication - a major procedure where the stomach is wrapped around the oesophagus – to improve his chances of survival. Max’s mum, Alison, reflects on how much has changed in his condition over the years: “He used to be able to make sound, and you knew what he was trying to say. He used to be able to eat but over the years, all that has gone. So, he can no longer swallow whatsoever. He can't weight bear. Things he could do when he was 5, he can no longer do at 16.” As Max’s care has become increasingly complex, his parents have had to constantly adapt his care routines and monitor every change in his condition. This has brought significant emotional and practical challenges for his family, with daily worries about Max’s ever-changing health.  

Meeting their Roald Dahl Nurse One year ago, Max and his parents were introduced to their Roald Dahl Nurse, Natalie. She has been a lifeline for the family, helping to coordinate Max’s care, provide emotional support, and advocate for Max. Alison explains: “This last year our lives have been turned upside down in a way we never ever thought would happen. But Natalie comes on calls with us, she joins Multidisciplinary Team meetings, and if we have Children in Need meetings she jumps in when she knows we need something pushed for. I don't really know what we do without Natalie because she has been here since we desperately needed someone. If it was taken away, I'd be distraught.”  Natalie also played a key role in supporting the family through Max’s recent surgery, including attending surgical appointments and managing his aftercare. “Whenever we come out of hospital, something will have changed and then we might be concerned about something” Alison explains. “So, we ring Natalie now and she sorts it. She just talks to people and explains stuff. She sat with me for hours doing the advance care plan for him, talking me through everything, anything we need to know and what we want to do.” For Max and his family, having Natalie during these difficult times has been fundamental to his recovery. With Natalie always at the end of the phone, Max doesn’t have to wait for appointments or rush to A&E when he is unwell, reducing his risk of picking up additional infections. For Alison, simply knowing Natalie can be there within an hour brings peace of mind during these incredibly difficult times.  Beyond clinical support, Natalie infuses compassion and joy into the family’s lives: “Natalie is so caring and kind.  She makes us smile and will brighten up our day. Max loves her. She is so gentle and kind with him, which he needs. People like us really need the support of Roald Dahl Nurses like Natalie.” Get Involved Find out how you can help provide more marvellous nurses to support families like Max’s through their complex medical journeys.