A TWO-YEAR-OLD girl has been diagnosed with a chromosome condition so rare that only eight other cases are known in the world.

The parents of Ellouise Thompson say their world has been turned upside down since doctors diagnosed the condition, which is known only as "3p26.3-25.3 deletion" because there are too few cases so far to warrant a full name.

Emma said she and Jon, who live near York, already had two fit and healthy children, Lillian, now seven, and James, now three, when Ellouise was born. They began to realise something was wrong over the months because she was not developing normally.

She said Ellouise hardly ever cried even when she hurt herself, she preferred to lie down rather than sit up, didn’t like crawling and made no attempt to babble.

She said they raised the problems with their doctor and various tests were conducted, but they were totally unprepared two months ago to be told that Ellouise had the ultra rare chromosome condition.

Emma said the known potential complications of the condition included heart defects, kidney and bowel issues, speech problems, sight and hearing issues, feeding problems, cognitive development and degeneration issues.

But the family’s only source of information and support has been a small charity Unique, which has shared medical research with them and put them in touch with the other eight families.

“Their support has been invaluable, enabling us to reach out to others as we try to process this news and understand our millions of questions, hopes and fears and arm us with the critical information needed to push to get the relevant support and screening in place,” she 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.”

Jon said Unique had been "absolutely amazing" in helping them.

“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,” he said.

“Without Unique we would be lost in a black hole of worry and ignorance.”

Emma said members of the family had made a video to Christina Perri’s song A Thousand Years, in which they had signed the words to show Emma and Jon their support and message of love, as signing would become Elouise's only voice.

She also said her cycling-mad Aunt Allison is taking part in a 100-mile bike ride next month, called Velo South, to raise funds for Unique.

  • To support the family go to their Just Giving page here