Seaford girl with rare genetic condition can now talk and take steps after life-changing treatment
Parents of a five-year-old girl from Seaford who was locked in her own body due to a rare genetic condition have told of the ‘magical moment’ she started to talk and move again.
Anastasia Buturin gradually stopped moving her arms, hands and legs when she was a baby but doctors in her native country Romania were not able to identify the cause of her condition.
In 2016, she moved to the UK with her parents, Valentin and Cristina. She had regular physical therapy but there was no improvement in her condition.
By the time she was three years old she was no longer able to move her head and was barely able to open her eyes and spent most of her time asleep.
But thanks to life-changing treatment at Evelina London children’s hospital, Anastasia is now able to talk, and move and control her head, hands, arms and legs.
Her father, Valentin, said: “When Anastasia was born she was a normal healthy baby. She was very happy, smiley and made lots of eye contact.
“When she was around three months old, we noticed that she was becoming very floppy and was struggling to hold her head up and as she got older she couldn’t move her hands, arms or legs.
“We were extremely concerned but no one was able to tell us what was wrong.
“She had lots of tests done and we took her to see different doctors but they were baffled by her condition and the closest we got to a diagnosis was that she might have cerebral palsy but no one could say for certain. We couldn’t accept that she would never be able to walk or talk and we were desperate for answers.
“Thankfully she was able to communicate with us by moving her eyes and smiling but as she got older making those movements became increasingly difficult.
“It was extremely heart-breaking watching Anastasia’s body deteriorate. We began to fear that her life was in danger.”
In 2018, after Anastasia’s care was transferred to Evelina London she had genetic tests at the hospital which revealed that she had a rare genetic condition called Tyrosine Hydroxylase deficiency.
The condition is caused by a reduction in the amount of dopamine in the body. Dopamine is a chemical produced naturally in the body, which helps the muscles and the brain to function effectively.
In June 2018, Anastasia started dopamine replacement treatment and now, she move her legs and take short steps if she holds on to someone for support.
Valentin said: “Once Anastasia started treatment we saw a change in her condition almost immediately. Within two days she was able to wave her hands around, open the palms and cuddle her teddies.
“Six months after she began treatment she started saying words and she said mum and dad for the first time last December.
“It was such a magical moment. We waited four years to hear her say those words.
“Anastasia has continued to make huge improvements. She has started speaking in sentences, and speaks both English and Romanian.
“She can also sit forward, has head control and can use her hands well enough to use an Ipad and can operate her powered wheelchair. Her life has been completely transformed.
“We are taking each day as it comes but our dream is that she will eventually be able to walk independently.”
Anastasia does not yet have the body strength to take unaided steps but Valentin and Cristina expect her mobility will increase as she continues treatment.
“Her school has confirmed that developmentally she has a normal understanding but has been trapped in a non-functioning body for four years,” said Valentin.
“We are hopeful that she will continue to progress and eventually attend a mainstream school.”
Valentin praised the care at Evelina London children’s hospital.
“We are extremely grateful for the care Anastasia has received at Evelina London,” he commented.
“Everyone involved in Anastasia’s care has gone out of their way to ensure that she got a diagnosis and was able to get the treatment she needed.
“I’m really keen to raise awareness of Anastasia’s condition so no other families have to suffer the way we did.”
Dr Helen Mundy, consultant in paediatric inherited metabolic medicine at Evelina London, said: “It’s extremely pleasing to know that Anastasia has responded so well to the treatment.
“She has a very severe form of Tyrosine Hydroxylase deficiency, which usually presents in babies and can lead to multiple and profound disability if left untreated.
“Dopamine is vital to the body and in short supply it stops the muscle from working properly which is why people with the condition are not able to talk or have extremely limited movement.
“The condition can be very difficult to spot and diagnose but at Evelina London we are very fortunate to have teams here that are able to diagnose and treat rare conditions like this.”