Elsie's Story

A fan of dressing up and My Little Pony, 7-year-old Elsie is an “absolute delight” who enjoys acting out her favourite films and dancing

Elsie suffers from Tuberous Sclerosis Complex, a complicated condition with numerous symptoms, including epilepsy, benign tumours in her brain, and cysts in her kidneys. Elsie also has suspected ADHD and autism related to the Sclerosis Complex and her treatment plan is managed by multiple consultants. When Elsie was born, there were no concerns other than some struggles with breastfeeding, which were solved by a switch to bottle feeding. Elsie's mum, Fran, noticed a white birthmark on Elsie’s abdomen, which seemed innocuous at the time, but Fran knows now that white patches on a baby’s body can be an early sign of the condition. Fran said, “She was always a difficult baby to settle, and we were backwards and forwards to the GP about colic, which went on and on until she started doing these odd movements at around six months old, where she would drop her head and her arms would come up. Initially, they weren’t very often, but they increased in frequency, so we spoke to the health visitor, who arranged an urgent GP appointment. We showed a video of Elsie’s movements and were referred to a community paediatrician, but I wasn’t happy, so we went to A&E and Elsie was diagnosed with infantile spasms the same day.”   Having researched infantile spasms, Fran discovered that three conditions are commonly associated with them, one of which is Tuberous Sclerosis Complex. Elsie’s blood tests were sent off for genetic testing and confirmed Tuberous Sclerosis Complex, but she has mosaic tubes, which means it’s not in all her cells.

Life with a child facing a long-term health condition can be challenging, Fran explains, “It’s tiring, everything is a battle, and it’s a worry as the seizures are difficult to control. Everything is a bit more difficult than it is with other children.” She continues, “Even the simple things, like going to a school club, mean you have to go back through the diagnosis and fill out forms, making it a massive chore. Elsie has difficulties at school and falls behind. I guess I’m just fighting to make sure she has the same opportunities as everyone else.”   Meeting their Roald Dahl Nurse Fran and Elsie were referred to their Roald Dahl Nurse, Fiona, at the Tuberous Sclerosis Complex clinic when they were looking at starting a new drug. Since this introduction, Fiona has provided invaluable support and insight. Fran says, “Fiona’s very available, so if I email then I know full well that she’ll ring me and I’m not waiting around. She’s brilliant; if I could multiply Fiona, we would be fine. She’s there for advice and support and has reduced my levels of stress and anxiety. She’s made things like blood tests much easier for us, and Elsie calls Fiona her best friend.” Support from their Roald Dahl Nurse Without Fiona, Fran believes she would lose her reassurance, “It provides that direct person to go to. Hospitals are big, and you can’t always reach someone who can answer your question or provide that reassurance. Fiona takes off the pressure, she’s like a breath of fresh air and it’s a lot easier to manage things.” Fran continues, “She makes sure things are progressed and I’m not worrying about what’s going on. I’m a nurse too, and I work nearly enough full-time. It’s very difficult to do at times, so having Fiona means I don’t have to come home and do the same thing, do my job at home. Fiona is caring and genuine and she goes above and beyond to make sure our needs are met.”

The charity connection Roald Dahl Nurses are established by Roald Dahl’s Marvellous Children’s Charity. The help and support that Fiona provides for Fran and Elsie, and other families like theirs, is only possible thanks to the generous support of the charity’s donors. Fran commented, “Without the help and support of the charity we wouldn’t have experienced Fiona’s support, so thank you.” Donate Today