A girl from Scotland has become the world’s youngest patient to have ground-breaking brain surgery at the age of two-and-a-half.
Viktoria Kaftanikaite had deep brain stimulation (DBS), which sends electrical impulses through the brain to fix abnormal nerve signals.
She was diagnosed with dystonia shortly before her operation, a condition would send her body into uncontrollable spasms and leave her screaming in unbearable pain.
Her parents, Patrycja Majewska and Martinas Kaftanikaite, said they felt helpless trying to care for their daughter, who struggled to eat and breathe.
Doctors said they operated on Viktoria in order to save her life because, in a very small number of cases, dystonia can be fatal.
They were extremely cautious but everything ‘worked like clockwork’, offering promise for future patients with movement disorders.
After the four-hour operation at Evelina Hospital in London in May, Viktoria is recovering in intensive care in her home city, Glasgow.
According to the Dystonia Society, DBS can cause a reduction in symptoms by up to 80 per cent. However, one in five patients don’t get much relief.
Ideally, DBS should be offered to children as early as possible, because the effects wear off the longer a patient lives with dystonia.
But before Viktoria, the youngest person to receive DBS was a three-year-old boy, as surgeons have gradually been using the treatment for young people with caution.
Dr Jean-Pierre Lin, the consultant paediatric neurologist who coordinated Viktoria’s treatment, told The Guardian that operating on Viktoria had ‘broken the sound barrier’ for age limitations.
Dystonia is estimated to affect 70,000 people in the UK of varying ages, according to The Dystonia Society, and can be caused by other conditions such as cerebral palsy or a stroke.
It took two years before Viktoria’s dystonia was diagnosed, and medics found it was caused by a rare mutation in the GNA01 gene.
The most severe form of dystonia has a 10 per cent death rate, and Dr Lin said Viktoria would have died without the surgery.
Viktoria’s arms, legs, eyes and mouth would constantly twitch, which stopped her from eating and also affected her ability to breathe by herself.
Her muscles would go into extreme spasm, leaving her screaming in unbearable pain.
Ms Majewska said: ‘Viktoria had out of control movements all the time. Her arms and legs wouldn’t move normally and she was pushing her head down and her belly up.
‘We noticed that from a young age she couldn’t hold anything in her hands, such as toys, and had trouble keeping her head up because it was falling from side to side.’
Ms Majewska and her partner, Mr Kaftanikaite, struggled to look after their daughter while doctors tried to figure out what was wrong with her during a five-month stay in intensive care at The Royal Children for Hospital, Glasgow.
For the overwhelming majority, dystonia does not shorten life expectancy and is not fatal. But it can cause secondary complications which are life-threatening.
Not long after her diagnosis, at two years and eight months old, Viktoria and her family were flown to London where they awaited the procedure.
DBS, which may be offered to patients on the NHS if other treatments don’t work, involves implanting very fine wires with electrodes at their tips into the brain by drilling two 5p-sized holes into the top of the skull.
The wires are connected to extensions under the skin behind the ear and down the neck, which then connect to a pulse generator.
This allows electrical impulses to be sent to the brain, regulating abnormal communications that cause symptoms of dystonia.
Ms Majewska said: ‘She wasn’t able to do anything, until now.’
Viktoria’s chances of being free from various disabling and painful movements have been greatly improved.
Dr Lin said doctors now know that they can safely deliver DBS at two and a half years of age, which is promising for the future.
Young children who have cerebral palsy, have been born premature or suffered an injury at birth now have better hopes of being treated with DBS.
Dr Lin said they have been offering DBS to increasingly young children over the past 15 years, and had seen a five-year-old boy with cerebral palsy walk completely unaided after having DBS.
‘Viktoria’s case is exciting and potentially very significant because it may offer an opportunity for children with early movement disorders to benefit from DBS and have a better future,’ he said.