Toddler has a condition so rare it doesn't even have a name

A two-year-old girl is among just nine people in the world to suffer from a condition that is so rare it does not even have a name.

Ellouise Thompson, from York, has a chromosome condition known only as '3p26.3-25.3 deletion', which affects just one in 820,000,000 people.

The youngster, who is unable to speak or hear, faces an uncertain future due to the disorder being so rare. It has, however, been linked to heart, kidney and bowel problems. 

Ellouise's parents first became concerned when they noticed she never cried - even when hurt and did not make babbling sounds as a baby. 

Her mother Emma Thompson, 40, said: 'When we found out about the condition we were beyond heartbroken. We were just numb with fear.'

Ellouise, who is one of three cases in the UK, is undergoing a series of tests and rehabilitation for her speech and cognitive functions.

Ms Thompson is speaking out to raise money for the small charity Unique, which she said has helped to answer 'our millions of questions'. 

'We were beyond heartbroken'   

Sure something was wrong, Ellouise's parents took her to see a paediatrician several times.

Ms Thompson, who is also mother to Lillian, seven, and James, three, said: 'We realised something was wrong, but it was beyond the scope of your standard children's paediatrician.' 

After a series of tests, the youngster was diagnosed with the disorder two months ago. 

Ms Thompson said: 'In a way it is good because Ellouise can get help. 

'In other cases we have researched the child has not been recognised with symptoms until they have reached school age.

'At the moment we do not know what the future holds for Ellouise but our family and friends have been amazing support.' 

'We do not know what the future holds for Ellouise' 

Ms Thompson claims her family's only source of information on the disorder has come from Unique. 

She adds being able to reach out to other families in the same situation has helped them answer 'our millions of questions'.

Ms Thompson said: '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.'

Ellouise's father Jon Thompson added the charity had been 'absolutely amazing' in helping them and without it '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.'  

Ms Thompson will take part in a 100-mile bike ride next month, called Velo South, to raise money for Unique. Donate here. 

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