28 February 2018

Boy with rare gene mutation undergoes pioneering treatment at Bristol Royal Hospital for Children

A young boy has undergone an innovative Deep Brain Stimulation treatment at Bristol Royal Hospital for Children, to help manage his life-threatening movement disorder.

Nine year old Sam Pearson from Chippenham has spent most of his life not knowing what's causing his condition, which has led to feeding difficulties, delay in early development, walking, and limited speech.

Just before Christmas in 2015, he had a chest infection which triggered violent, flailing body movements. He needed to be admitted to the paediatric intensive care unit at Bristol children's hospital and put into a coma so that his movement could be controlled.

While Sam was recovering in hospital, paediatric consultant neurologist Dr Mohammed Babiker became aware of a newly described mutation in a gene called GNAO1, which can show similar symptoms to those Sam was experiencing. Only around 50 children in the world so far have been thought to have this specific gene mutation in the last couple of years.

Sam was tested for the gene, which confirmed he had the mutation. He then suffered another bad episode of his movement disorder, called dystonia, which was difficult to treat with medication.

Now knowing what condition Sam had, Dr Babiker was able to consult with other clinicians in London and Australia, and it was agreed that implanting a Deep Brain Stimulator (DBS) was the best way to treat him.

The device works by placing electrodes into the affected area of the brain, creating an electric field which overrides the pathway causing the issue.

Using a cutting-edge computer guided robotic technique for the surgery, thanks to equipment funded by The Grand Appeal, Sam had the DBS implanted by a team of neurosurgeons at the children's hospital, joined by colleagues from North Bristol NHS Trust, on the 2 November.

Less than 10 patients in the world have received DBS as a treatment for this specific gene mutation, all of whom have had an excellent response.

Sam is now recovering well and was discharged from hospital in time for Christmas. Since then he has started walking independently again, all of his medications are being weaned down and he's now back at school.

Carol Pearson, Sam's mum, said: "It's life changing, knowing that this should be the end of our long hospital stays.

"The first couple of weeks at home were tough, but now he's doing so much better.

"The staff at the children's hospital have been incredible and we can't thank them enough.

"It's wonderful to know that the treatment Sam's having will also benefit others in the future."

Jenny Sacree, an advanced paediatric nurse practitioner in neurosciences who has been programming Sam's device, said: "The aim of having this device is to prevent Sam from having another crisis episode and improve his quality of life. It's amazing to see him and his family doing so well, Sam has such a wicked sense of humour and now everyone's able to see it.

"He now has a lot more control over his movement and is coming on in leaps and bounds every time I see him."

Mike Carter, paediatric neurosurgeon at Bristol Royal Hospital for Children said: "Bristol neurosurgery has a long history with the use of Deep Brain Stimulation and across the city at North Bristol NHS Trust they have developed the technique to treat adults with a range of movement disorders, chronic pain, hypertension and depression.

"Thanks to the Bristol children's hospital charity, The Grand Appeal, providing us with high field MRI scanners and a stereotactic robot, deep brain stimulation techniques are now being applied for the treatment of movement disorders and epilepsy in children. This is an exciting time for paediatric neurosciences and we hope to be able to report back on a number of Bristol Royal Hospital for Children 'firsts' in the near future!"

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