A beautiful two-year-old girl is among just NINE people in the world to suffer from a condition so rare – it doesn’t even have a name.
Ellouise Thompson was given the mystery diagnosis of a chromosome condition known only as ‘3p26.3-25.3 deletion’.
The condition, which affects just one in 820,000,000 humans, is so rare that medical professionals say it does not even warrant a full name.
Her parents, Emma and Jon Thompson, became worried after she never cried, even when hurt, and didn’t even babble sounds as a newborn.
The couple, who already have two children, Lillian, seven, and James, three, knew something was wrong and went to visit a paediatrician several times.
After a series of tests, the parents were shocked to be told Ellouise had the scarce condition just two months ago.
Emma, 40, of York, said: “We realised something was wrong, but it was beyond the scope of your standard children’s paediatrician.
“When we found out about the condition we were beyond heartbroken – we were just numb with fear.
“In a way it is good because Ellouise can get help – in other cases we have researched the child has not been recognised with the symptoms until they have reached school age.”
The ailment can pose a risk of heart defects, kidney and bowel issues and speech and hearing problems.
At the moment, Ellouise doesn’t speak and will eventually need to learn sign language because she is profoundly deaf.
“At the moment we do not know what the future holds for Ellouise – but our family and friends have been amazing support,” Emma said.
Emma says due to only nine confirmed cases in the world, with three in Britain, the family have only one source of information from a small charity called Unique.
The mum-of-three says being able to reach out to other families in the same situation has helped them to start to answer ‘our millions of questions’.
She added: “We do not know what the future holds for Ellouise but with Unique’s help we know we will fight for the support needed to enable her to thrive in her own unique way.”
Jon said the charity had been ‘absolutely amazing’ in helping them and “they would be left in a black hole of worry and ignorance”.
He said: “The insights and experience of the other families Unique have connected us to has defined and driven our dealings with medical professionals, our understanding of what can be possible and the support available to allow us to best help Ellouise become all she can be and more.”
Ellouise is now undergoing a series of further tests and rehabilitation for her speech and cognitive functions.
Mum Emma is taking part in a 100-mile bike ride next month, called Velo South, to raise funds for Unique.
To support the family, visit: https://uk.virginmoneygiving.com/fundraiser-display/showROFundraiserPage?userUrl=AlisonJane2&pageUrl=1