Mum calls for research into baby Chloe’s rare illness

Reporter:

Dale Spridgeon

THE mum of an Anglesey toddler who has a rare condition which only affects around 20 other people worldwide is calling for more research into the disease.

Chloe Paulette Milloy, 19 months old, was diagnosed with the rare genetic condition, Deletion On Long Arm Chromosome 14, and has been receiving treatment at Ysbyty Gwynedd.

Now, her mum, Kayleigh Milloy, 25, is hoping to raise awareness of the disorder, which is little understood.

Kayleigh, who lives in Bryngwran on Anglesey with Chloe and her twin sister, Scarlett, son, Leo, and partner Paul, said there was a “limited” amount of information on Chloe’s condition

Her daughter’s illness was diagnosed by consultant paediatrician Dr Shakir Saeed and his colleagues at Ysbyty Gwynedd. It affects Chloe’s growth, feeding, breathing and heart

"Chloe has a twin sister, Scarlett, who was born at 31 weeks by an emergency C-section. Following the birth the first thing we noticed with Chloe was her left eye. She has an iris shaped like a keyhole and not circular. This was then diagnosed as coloboma of the iris which causes blurred vision,” she said.

“Since she has been born there has been numerous tests carried out, she wears a hearing aid and she was diagnosed with having epilepsy as well as some hearing loss and is very sensitive to light. She struggles with sleep and has a hole in her heart and has to see a cardiologist on a regular basis.

“It wasn’t until we went through further testing with the genetics team at Ysbyty Gwynedd and met with Dr Saeed we found out what was causing these complications.”

Her condition means she is currently at the development age of four to five months. She also has no immune system.

Dr Saeed said the disease is so rare there it is extremely difficult to find information about it.

“The condition Chloe suffers from is extremely rare, literature suggests there are just over 20 people in the world with this specific mutation on chromosome 14 which Chloe has.

“Chloe has undergone a lot of tests until we got this diagnosis and it took a lot of time to get there as there was such little information out there about it,” he explained.

“At least now we know the symptoms involved with this condition and if it comes up with another child at least we now have the key symptoms to form a diagnosis and initiate genetic tests.”

“We just have to take each day as it comes. I’m speaking out because feel Chloe’s condition needs to be highlighted as it’s so rare.

“If there was more research done then children could be diagnosed earlier.”

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