A young boy has been cured of an ultra-rare condition that affects just 50 children worldwide due to a pioneering ‘brain transplant’.
Sam Pearson, nine, from Chippenham, Wiltshire, was diagnosed with a mutation in the GNAO1 gene after suffering violent, flailing movements brought on by a chest infection in October 2015.
After being put in an induced coma to control his symptoms, doctors decided to fit Sam with a Deep Brain Stimulator (DBS), which creates an electrical field that overrides the pathway behind the jerky movements.
Sam has since recovered well and has recently started walking independently, as well as having his medication reduced and even returning to school.
His mother, Carol Pearson, said: ‘It’s life changing, knowing that this should be the end of our long hospital stays.’
Sam Pearson (believed to be pictured after the procedure) has been cured of an ultra-rare condition that affects just 50 children worldwide due to a pioneering ‘brain transplant’
WHAT IS DEEP BRAIN STIMULATION?
Deep brain stimulation (DBS) helps to control movement problems and is the main type of surgery used to treat Parkinson’s.
It involves implanting very fine wires with electrodes at their tips into the brain.
These are connected to extensions under the skin behind the ear and down the neck, which then connect to a pulse generator.
When the device is turned on, electrodes deliver high-frequency stimulation to the targeted area, which changes signals in the brain that cause Parkinson’s symptoms.
The brain is not destroyed in the process.
DBS is usually reversible.
It does not stop Parkinson’s progressing and is not a cure.
Source: Parkinson’s UK
‘He’s doing so much better’
Speaking of her son’s recovery, Ms Pearson added: ‘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.’
‘Coming on in leaps and bounds’
Paediatric consultant neurologist Dr Mohammed Babiker, was already aware of a newly discovered mutation in the GNAO1 gene when Sam presented tothe Bristol Royal Hospital for Children with his symptoms.
He decided to implant a DBS into the youngster on November 2 after consulting with other experts in the UK and Australia.
The procedure required a cutting-edge computer-guided robotic technique and was part-funded by official children’s hospital charity The Grand Appeal.
Although less than 10 patients have received DBS for this specific genetic mutation worldwide, all have shown an excellent response.
Jenny Sacree, an advanced paediatric nurse practitioner, who was involved in programming the device, added: ‘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.’
He was put in an induced coma after experiencing violent movements due to a chest infection