Isabella's Diagnosis Isabella was a healthy child with no sign of any health conditions until the age of seven. Her mum Lucinda remembers, “I noticed when we were talking that she started these flicky eye movements and just zoomed out. I thought it was a bit strange and that she was messing about. When it happened again, I researched and found YouTube videos about epilepsy and thought that’s what she was doing!” The local doctor asked to see video evidence, which is difficult to capture as Isabella’s episodes were so quick. When it happened again at the top of the stairs, causing Isabella to fall to the bottom, an immediate trip to the doctor resulted in a hospital referral for tests. Generalised Myclonic or Absence Epilepsy was diagnosed, but progress was slow, as Isabella is allergic to a number of the relevant drugs, so Lucinda contacted Bristol Children’s Hospital for gene testing. Isabella was referred to Yeovil and a full gene test was carried out, finally revealing the gene for Porier-Bienvenu Syndrome, a rare disorder associated with developmental delay and epilepsy. In terms of day-to-day life, mornings can be a struggle, as that is when Isabella’s epilepsy absences can be quite bad. Sometimes Lucinda has to dress her and she can’t bathe alone, or brush or put her hair up herself due to co-ordination. Lucinda goes on, “The fits have calmed down a bit, but they can be quite traumatic and on a few occasions I’ve had to call an ambulance. Sometimes she can have them all day, going into the evening, and just hasn’t snapped out of it and I worry if she goes to bed like that.”
Meeting their Roald Dahl Nurse Roald Dahl Nurse Emma came into Lucinda and Isabella’s lives at a hospital consultant appointment. She has since provided invaluable support and insight, particularly around the most recent gene diagnosis. Lucinda explains, “Emma’s very caring, you can pick up the phone and she’ll be there, especially in an emergency. Thanks to her specialist training, she was able to put me in touch with a gene counsellor and we’re now part of a study in America and in touch with six other parents in the UK dealing with the same diagnosis. It’s helped me to understand Isabella’s condition better and why it developed later for her.” Support from their Roald Dahl Nurse Emma accompanies Lucinda and Isabella to all their medical appointments so she knows exactly what’s going on and can ensure a joined-up approach to Isabella’s care. She monitors prescriptions to ensure continuity and helps with all the communication between hospitals and consultants. Lucinda continued, “Emma’s been brilliant! She liaises with the doctors on our behalf to get prescriptions sorted when the fits ramp up, which means fewer hospital visits for us, and she speaks to the pharmacies and does everything she can. She goes above and beyond; I can’t fault her.” Support at School Children with neurodevelopmental disorders do not always receive appropriate care at school and Emma was able to offer support in this area too. Lucinda says, “Emma took the time to speak to the school to develop a new care plan and help them understand Isabella better. I’ve been fighting for three years regarding GCSEs as her condition affects her memory, so it’s just not feasible for her to do them. Emma has helped the school to understand this and take the pressure off Isabella.” Emotional Support Lucinda has also found the emotional support from Emma a huge benefit, “She’s a voice at the end of the phone who understands, but still with that professional knowledge, so you can talk about anything. With epilepsy or any illness in a child, you need it dealt with quickly and Emma is that reassurance for us. I don’t even want to think about how it would be if Emma wasn’t around. She’s like a ray of sunshine, she’s just marvellous.” The Charity Connection Roald Dahl Nurses are established by Roald Dahl’s Marvellous Children’s Charity. The help and support that Emma provides for Isabella and Lucinda, and other families like them, is only possible thanks to the generous support of the charity’s donors. Lucinda commented, “I couldn’t thank the Roald Dahl’s Marvellous Children’s Charity donors more, there’s just no words really, just thank you very much. I might start crying!” Please donate today to help establish more vital Roald Dahl Nurses like Emma.