Esmae's Story

Esmae is supported by her Roald Dahl Nurse, Katrina. Esmae is a sociable and intelligent little girl who loves swimming and seeing her friends at nursery.  Esmae has Spinal Muscular Atrophy, a serious genetic condition that causes muscle weakness and problems with movement that gets worse over time. Esmae’s mum, Hannah, explains, “She has a gene deletion. It’s complicated, it affects the muscles and makes them quite weak. She has got a lot stronger with the Spinraza medication, which is given with a puncture in the spine every four months, it’s like a protein booster for muscles and it’s really helped.” Hannah continues, “From about six months old she was quite floppy and had no strength and it declined. We went to the doctors and really tried to push, as we knew there was something wrong. She was diagnosed at 13 months, after blood tests and CT scans. They told me you not to look online, but I had to and it gives you the worst-case scenario, my world came crashing down. We were referred to Addenbrookes Hospital, which is where we met Katrina, it’s been a bit of a whirlwind.” Caring for a child with a long-term health condition can be challenging as Hannah describes, “I’ve done daily physio with her from day one and as she’s got older it’s become more challenging, but I never give up. She’s in nursery now and we’re trying to do an EHCP (Education, Health and Care Plan), which is difficult, but we’re on the road to getting it done.  Our life has adapted to have a disabled child, but when we meet up with friends and their children, they’re doing things that aren’t easy for Esmae to do.”

Support from their Roald Dahl Nurse Katrina, Esmae’s Roald Dahl Nurse Specialist, provides ongoing support for Esmae and her family, as Hannah describes, “We see our local consultant about once every six months now, as it’s more Katrina that we lean on. She’s really helpful and explains everything, she’s quite motherly. I’m not allowed to be with Esme when she has a lumbar puncture, which is traumatic, but Katarina’s with her which is a real comfort to me.  She’s taking over my role then, as well as being a nurse.” Hannah goes on, “When Esme’s achieved a little milestone or done something really good, then I straight away ring Katrina to tell her. She’s always just as excited as me about it because she’s watched her grow from a baby. She just supports us in every way really. It is really stressful and Katrina is really empathetic and compassionate, she really thinks about us and our situation.” The charity connection The help and support that Katrina provides for Esmae and Hannah, and other families like them, is only possible thanks to the generous support of the charity’s donors. Hannah says, “If we didn’t have Katrina, I would genuinely feel lost because I lean on her a lot for everything, not just treatments. I look to her for advice, she’s just got me through so much because everything was so traumatic and shocking. I can trust Katrina in every way and I just can’t imagine how it would have been without her.” Please donate today here.