Grace's Story

Grace, aged 5, is cared for by her Roald Dahl Nurse Katrina. She is a happy, bright and bubbly little girl who loves playing with her dollies. She also enjoys spending time with her family. Grace has Spinal Muscular Atrophy Type 1, which means she has muscle weakness and deterioration due to the lack of protein going to her muscles. Her mum Rebecca explains, “Grace was born seven weeks prematurely, which was a shock, but we didn’t know that anything was wrong at that stage. After 3 or 4 months I noticed that she had puffy feet and I wasn’t sure why, so she was seen by her consultants in NICU (Neonatal Intensive Care Unit), who referred us to a physiotherapist, who then got a specialist physio to see us as she knew something wasn’t right.” Rebecca continues, “We met a neuro consultant in Norwich Hospital who wrote a few things down for us but not for us to go away and Google search. Blood was taken from both of us so that they could run genetic testing and we had an agonizing wait until Grace was diagnosed. We were told by the consultant to go and make memories, as she was unlikely to live past 18-24 months, but a couple of months later, a once-in-a-lifetime gene therapy drug got approved by the NHS to help. It’s a one-off dose to help and maintain what she’s got, but it’s not a cure.” Describing how Grace’s condition affects her day-to-day life, Rebecca says, “Grace’s condition affects everything in her body. Her respiratory system is very weak and vulnerable, so if she catches a common cold, she will most probably end up in hospital. We’ve had several scary episodes when we didn’t know what the outcome would be or if Grace was strong enough to fight it. It affects all her movement, so she doesn’t walk and has specialist power chairs to keep her moving and support spine alignment. Grace has a slouched posture, and if she starts to get a curve in her spine, it will affect her respiratory system, so she’ll probably need an operation in future to have spinal rods fitted. She doesn’t walk, but her upper limb movements are quite good, so she uses her arms and hands a lot to do things. Grace has recently lost the ability to eat orally, which has had a huge impact on her life because she loved food, and it was the only thing she had control of and that she could do herself. It has physically and mentally impacted her life; her condition affects all aspects of her daily life.”

Due to the complex nature of her condition, Grace is under the care of two hospitals and has to attend an average of 4 or 5 appointments every month. Meeting their Roald Dahl Nurse The family met their Roald Dahl Nurse Katrina when Grace was getting lumbar treatments every four months. Rebecca says, “We’ve always had a good relationship with Katrina and she’s always been there whenever I’ve needed her. She supported us when the gene therapy came in, because it was a huge decision for us to either carry on with what we knew or take the jump for gene therapy, and know that Grace wouldn’t have to go through the trauma of lumbar punctures every four months. There wasn’t much evidence on the new therapy and Katrina obviously couldn’t tell us what to do, but she guided us.”

Support from their Roald Dahl Nurse Rebecca feels that the family’s quality and experience of care has been improved thanks to Katrina’s involvement and personalised approach, she says, “Katrina has always been very bubbly and supportive, she’s got a little girl herself and it just feels more personable with her. She is my ‘go-to’ and gives me stability, I know she’ll always get back to me and support us when needed. She’s always been very good with Grace and very positive; she’s loving, approachable and brilliant at her job. Having Katrina there to guide us, reassure us and advocate for us has been a blessing.”

The charity connection Roald Dahl Nurses are established by Roald Dahl’s Marvellous Children’s Charity. The care and support that Katrina provides for Rebecca and Grace, and other families like them, is only possible thanks to the generous support of the charity’s donors. Rebecca commented, “We’re very thankful and grateful to be able to have a nurse like Katrina, she is amazing, and without people raising money, families in our situation don’t have that comfort blanket.” Please donate today and every penny of your generous donation goes directly to providing this crucial care for children and their families. Thank you.