Isaac's Story

Meet Isaac, a very clever four-year-old who enjoys puzzles and reading. Isaac was born with a rare disease called Spinal Muscular Atrophy which affects his entire body including his breathing and swallowing. Isaac and his family are now supported by their Roald Dahl Nurse Specialist Vicki.  Isaac’s Diagnosis When Isaac was born his movement appeared limited and his breathing was laboured so he was immediately taken to the Neonatal Intensive Care Unit.  After tests and investigations, at just 13 days old, Isaac was diagnosed with Spinal Muscular Atrophy. Initially Isaac was given only around four to six months to live, which was heart-breaking for the family. Shortly after Isaac’s diagnosis, the family were told about a possible drug trial, and at 28 days old Isaac was given his first dose of the new drug. By the time Isaac had his second dose, he no longer required the ventilator to breathe, he was moving his arms and legs and was more alert.  Meeting Isaac's Roald Dahl Nurse Vicki The family met Vicki, their Roald Dahl Nurse when Isaac was very young. Vicki has been a great support to the family ever since.  Isaac has many appointments at different hospitals, this is hard to organise and demands a lot of the family’s time. Vicki helps by coordinating the appointments, so they can happen on the same day to reduce travel time. The family hopes to be able to attend all appointments at one hospital with Vicki’s help. 

Kerry says ‘If we did not have Vicki, I would have to spend a lot of time on the phone trying to coordinate appointments. I don’t think I would have been able to go back to work, and I would be very lonely. Without Vicki I would not have anyone to turn to.’ Isaac and the entire family have been through so much recently, and the complications from Isaac’s gene therapy have made things especially difficult and overwhelming. Amidst all the uncertainty and anxiety, Vicki not only provides clinical support but also provides comfort and emotional support for Isaac and his family. 

Kerry says, ‘without our Roald Dahl Nurse, life would be a lot more stressful.’ Your donation can help more families like Isaac’s receive the specialist care and support they need. Please donate today and Do Something Marvellous for these brave children and their families.   Donate Today