Jocob's Story

Roald Dahl Nurse Emma supports 1-year-old Jacob. Jacob is a very chilled and happy little boy who loves people. He also likes singing, lights, and anything sensory. Jacob has the brain malformation Agyria Pachygyria, which causes him to have epilepsy and developmental delay.  At the age of four months, Jacob woke up from a nap and had a spasm, his mum Lucy remembers, “We took him to A&E and he had an MRI and all sorts of scans, which showed that his brain’s not fully formed. He had genetic blood tests to try to find the cause, and he has a genetic abnormality which has never been reported in anybody else worldwide. He also has developmental delay, so he’s going to be two in March and he’s probably the equivalent of a four- or five-month-old in terms of development.”

Life can be challenging caring for a child with a long-term health condition. Lucy explains, “We had no idea what was happening to start with or what the diagnosis meant and because it’s still so new to the professionals, we’re having to learn as we go. Jacob's got no prognosis yet, so we don’t know how long he’ll live or how he’ll develop. One of the trickiest things is that we never know what tomorrow will bring, but the beauty of that is taking each day at a time.”  Lucy continues, “Hospital admissions can be rough. Jacob’s had lots of problems with urinary infections, and with his chest and catching bugs, being immunosuppressed. Yeovil Hospital is his home base if he’s admitted because, for the first year of his life, we basically lived in the hospital. We would just swap, swap, swap to make sure we were both rested and trying to work at the same time. Jacob’s also got a neurologist in Bristol and his eyes are looked after at Bristol and Great Ormond Street, and he’s been to Taunton for a few things as well. Jacob also has physiotherapy at Dorchester because of where we live and get funding.”  Jacob’s condition also brings other considerations for the family’s day-to-day life, as his mum explains, “The other hard thing we’re approaching is we’re going to need a new house soon for his disability, with a wet room and things like that, and schools are another issue, thinking about where he’s going to go and where will be appropriate. Day-to-day Jacob’s on so many meds, our lives and daily routine are based around what he needs next.”

Meeting their Roald Dahl Nurse Specialist The family was introduced to their Roald Dahl Nurse Emma as soon as Jacob was diagnosed. Lucy says, “We’ve been supported by Emma from day dot, although she is mainly our epilepsy nurse, she’s our everything nurse now. I don’t know what she doesn’t support us with.” Support from their Roald Dahl Nurse Roald Dahl Nurse Emma has supported Lucy and Joel from the beginning, “To start with she was checking in with us every single day, not even just Jacob, just to make sure we were ok and understood what was happening. When Jacob went on some high-dose steroids to stop his seizures, we had to see Emma every other day to check that his blood pressure wasn’t dangerously high. Then for probably a good six months, we saw her at least once or twice a week for blood pressure checks and with his seizures on and off, talking to her about how he was reacting to changes in meds. She was literally on the end of the phone and I could send her a video or text at any point and she would be there, she’s so great.” Emma’s support has also led to a reduced number of hospital admissions for Jacob, which is important to the family, as Lucy explains, “As Jacob is immunosuppressed, every time he goes into hospital he’s at risk. I can send videos to Emma and she will advise on the best course of action. It’s kept him out of hospital as much as it could.” Lucy continues, “Mentally she’s been a massive support for us all. When Jacob was born I suffered from post-natal depression, and even though it’s got nothing to do with her role as an epilepsy nurse, she listened.  Without her, alongside the perinatal team, I don’t think I’d be where I am today. If we were admitted into the hospital and I was on my own, she’d always come and check if I was ok and if I’d had a cup of tea or eaten. Honestly, I can’t sing her praises enough, she’s so fantastic, Jacob loves her and I feel like she’s part of our family.”

The charity connection Roald Dahl Nurses are established by Roald Dahl’s Marvellous Children’s Charity. The help and support that Emma provides for Jacob, Lucy, Joel, and other families like them, is only possible thanks to the generous support of the charity’s donors. Lucy commented, “If we didn’t have Emma it would be really scary, we’d be lost. I dread to think how we’d have felt during admissions without her. I don’t think Jacob would have been treated so quickly and I don’t think we’d have felt anywhere near as supported. Emma is marvellous, she goes above and beyond and can’t do enough for anyone, we love her.”