TODDLER IS ONE OF ONLY 20 CASES
Mum speaks out on ultra rare condition
A MUM whose toddler is one of only 20 people in the world to suffer from a rare genetic disorder is calling for further research into the condition.
Chloe Paulette Milloy’s growth, feeding, breathing and heart are affected by the condition known as deletion on long arm chromosome 14.
The 19-month-old should be able to walk and speak a few words by now, but she has the development age of a five-month-old.
She also has no immune system, which leaves her regularly suffering from chest infections and colds.
Mum Kayleigh, of Bryngwran, Anglesey, said there is only a limited amount of information on the condition to afflict Chloe, whose twin sister Scarlett has shown no such symptoms.
The 25-year-old said: “They were born at 31 weeks by emergency C-section. The first thing we noticed with Chloe was that her left eye has an iris shaped like a keyhole. This was diagnosed as coloboma of the iris which causes blurred vision.
“There have been numerous tests carried out, she wears a hearing aid, was diagnosed with epilepsy, some hearing loss and is sensitive to light.
“She struggles with sleep and has a hole in her heart, so has to see a cardiologist on a regular basis.”
“Chloe also uses a feeding tube and we believe has an intolerance to protein so we have to use special milk.”
Dr Shakir Saeed, Consultant Paediatrician at Ysbyty Gwynedd, Bangor, who diagnosed Chloe, said the disease is so rare it is extremely difficult to find information about it.
He said: “Literature suggests there are just over 20 people in the world with this specific mutation on chromosome 14 which Chloe has.
“There was such little information out there about it.
“But at least now if it comes up with another child we now have the key symptoms to form a diagnosis and initiate genetic tests.”
Kayleigh, who lives with partner Paul, the twins, and their son Leo, added: “We just have to take each day as it comes but it’s extremely hard work with a child who suffers a rare condition like this, especially when there is hardly any information out there.
“The reason I’m speaking out is that I feel Chloe’s condition needs to be highlighted as it’s so rare and I fully support Dr Saeed when he calls for more research. If there was more research done then children could be diagnosed earlier.”