A YOUNG girls life has been changed for ever thanks to dedicated doctors who helped her learn to walk and talk.
Five-year-old Anastasia Buturin, from Seaford, overcame a rare genetic condition which had previously baffled medics.
As a baby, she had gradually stopped moving her arms, hands and legs and doctors in her native Romania were not able to pinpoint the cause.
In 2016 she moved to the UK with her parents Valentin and Cristina and started having regular physical therapy to try to remedy her condition but there was no improvement.
By the time she was three, she could not move her head and could barely open her eyes, spending most of her time asleep.
But her parents refused to accept that she would never be able to walk and talk and kept fighting to help her.
Her mother 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 about three months old, we noticed that she was becoming very floppy and was struggling to hold her head up. As she got older she couldnt 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 couldnt 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 heart-breaking watching Anastasias body deteriorate. We began to fear that her life was in danger.
In early 2018 she was transferred to the Evelina London hospital and had a series of genetic tests which revealed she had a severe form of a rare genetic condition called tyrosine hydroxylase deficiency. The condition is caused by a reduction in the amount of dopamine, a chemical produced naturally in the body, which helps the muscles and the brain to function effectively.
Anastasia was started on dopamine replacement treatment and the new approach worked wonders.
Her father 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.
Dr Helen Mundy, consultant in paediatric inherited metabolic medicine at Evelina London, said: 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.
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Seaford girl with rare condition learns to talk after breakthrough - The Argus
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