A MOTHER has told of her heartbreak after discovering her baby son has an ultra-rare genetic condition that will cost him his life.
Louise Knaggs, of Huntington, York, said her first child, Blake, appeared fit and well when he was born at York Hospital last December.
"It was the best day of my life," she said. "My husband Paul and I had been trying for a baby for a couple of years and we were over the moon."
But earlier this year she noticed Blake was feeding poorly and failing to put on weight, and she took him to A & E. He was admitted and scans and X-rays showed he had an enlarged heart and shadows on his lungs.
She said he then underwent genetic tests which eventually showed he was one of only 57 children worldwide who had ever been diagnosed as suffering from Mucolipidosis II ML2, (MPS). He has inherited the condition from his parents, who are both carriers, which gave him a one in four chance of having the disease.
"Paul and I were absolutely devastated when we were given the news," said Louise, 33. "We were heartbroken.
"The condition is incurable and he has a very poor chance of reaching his fifth birthday."
Now the couple and their friends and relatives are launching a drive to raise awareness of his condition and raise funds for research, which they hope they might prolong Blake's life but also help other children born with MPS.
Louise's sister Joanne, of Haxby, has set about organising an auction evening and raffle at Haxby Sports Club on November 14, the proceeds of which will go to the 'Wicked Genes' appeal, run by the Society for Mucopolysaccharide Diseases.
The charity supports people affected by MPS and other related diseases and improves their lives, promotes research into the condition and increases public awareness of it.
The charity says MPS diseases are caused by a missing enzyme which means the body can't break down certain structural molecules. These accumulate in cells, causing progressive physical disability and affecting many of the major organs.
Joanne said: "Sadly, due to its rarity, little is known about this condition. We have just about come to terms with the fact that there is very little we can do to save Blake, as there is no known cure, but what we can do is to raise awareness of his condition and raise as much money as we towards further research."
She said she had already contacted 250 businesses to ask for prizes, and had met with a good response.
She added that next year, she and Louise were planning to walk Yorkshire's Three Peaks. "I'm also planning to throw myself out of an aeroplane - with a parachute on!" she said.
*Anyone wishing to donate items for the raffle and auction should email firstname.lastname@example.org, or call Joanne on 07730 384732.