Sophie’s story: Alder Hey research reaches out to families across the country
Alder Hey is a leading paediatric research centre which benefits young patients from across the country, including 10-year old Sophie Atkinson. Sophie and her family live by Middlesbrough and have been travelling across the country to Liverpool for the past year to take part in a key medical study.
When Sophie was 18 months old, her local hospital diagnosed her with a type of epilepsy called Dravet Syndrome. This is a rare genetic epileptic encephalopathy due to a major dysfunction of the brain. The condition causes uncontrollable epileptic seizures as well as learning difficulties and autism.
Having Dravet syndrome affects all aspects of Sophie’s life. The condition influences her speech, the way Sophie walks and her ability to learn. Sophie attends a school in Middlesbrough where she is given extra support for her learning needs. Although Dravet syndrome has a big impact on her life, it certainly hasn’t stopped Sophie from being a lively and loving young lady.
At the beginning of 2015, Dravet UK were hosting a conference which Sophie’s dad Darren attended. Alder Hey’s Dr Richard Appleton had helped to organise this conference and he spoke at the event about a unique medical study and invited families to take part. The decision to participate was taken by Sophie and her family.
Children like Sophie who are chosen for the study are treated with a cannabinoid which is a cannabis product to help control seizures. It comes in a soft oil-like texture which has a slightly sweet strawberry flavour. Sophie doesn’t have any problems taking her cannabinoid medicine which she takes twice a day alongside her usual antiepileptic medication.
Her mum Lisa explains: “Sophie’s epileptic seizures would occur quite often but since taking the cannabinoid, apart from a couple of brief seizures in recent weeks, there hadn’t been any for almost 12 months. She hasn’t needed any emergency medication since taking the cannabinoid treatment. We’ve also seen a definite improvement in her communication skills. Sophie has definitely been a lot more alert within herself and her overall wellbeing has enhanced.
“We felt welcome from our first visit to Alder Hey when I first met Dr Appleton. He’s very down to earth and not what I expected from a consultant; honest and with lots of patience to answer or questions. Staff have always been available to speak to us. Our point of contact has always been the Neurosciences Research Nurse, Lindsey Brown who has been very good to Sophie and has helped her whenever she has had her bloods taken.”
“We’ve been making the journey to Liverpool for her medication and appointments so they can check Sophie’s progress,” adds Dad. “It’s a long way for treatment but Sophie likes coming to Alder Hey and has lovely connection with Lindsey. Sophie’s also intrigued with the medical team watching them work and seeing all of the medical equipment.
Lisa adds: “Our family have seen something special in Alder Hey and its dedication to children. The whole approach Alder Hey is different; it’s unlike to any other place we’ve taken Sophie.”
The trial is still under way and is likely to end in mid-2017. After this time Sophie should be able to continue to be prescribed the cannabinoid through the NHS.