Jake's story

The circumstances they face together as a family are about as tough as they can get, because Jake is suffering from a rare condition that will shorten his life.

Finding out about Jake's condition

Jake appeared perfectly healthy until he was 9 months old but then his development seemed to slow down. Karen said they didn’t take a lot of notice as all children develop differently.

"We never imagined anything was wrong. We were so pleased when Jake arrived because Daniel had club-foot and we thought – thank goodness, Jake is OK."

Jake continued to fall behind and eventually he was referred for tests which revealed he had a condition called Fucosidosis.

Our first reaction

This means he is missing the enzyme that breaks down waste products and without it, used materials cannot be completely broken down and remain stored in the body, causing progressive damage to cells and as more cells become damaged, symptoms start to appear. Those products gradually attack major organs.

There is no treatment and no cure.

Paediatricians have given him a life expectancy of five and although Karen firmly believes they have longer with him, she says they take every day as it comes.

“I am 18 months down the line now but being told Jake was life-limited was the worst thing I had ever been told in my life. I didn’t believe it – it was so difficult to come to terms with. I didn’t want to go to a hospice; I said he’s not dying. Hospice is such a scary word.”

Supporting each other

Jakes illness has affected them massively as a family.

Jake's older brother Daniel has also been through a lot, having been born with club-foot and undergone many operations, but he is now fine and he even plays football – something that Karen and Scott thought he would never be able to do.

Karen says they are very lucky in some ways because the boys get on really well and Daniel is extremely protective of Jake.

They also get a huge amount of support from Scotts parents Sue and John – especially Sue who Karen says is absolutely wonderful and will do anything for them.

Support from CHASE

Karen was initially reluctant to use the CHASE service because she was not doing well in accepting what was happening to Jake, but found the courage to go through the doors at Christopher’s which proved to be a turning point for her.

“I am using Christopher’s more now because of where I am in my life, because before I didn’t want to leave Jake at all.

"I felt he was my responsibility and I would be a bad mother by leaving him. But I don’t see things the same now as I did at the beginning.

“Christopher’s is just out of this world. Jake can do what he likes, he can roam around, no one says 'no' and he is not restricted like he has to be at home and at school. People with normal children should spend a day here."

Making the best of every day

“I believe I have been blessed by having Jake, it has turned me into a better person. I don’t worry about the small things in life.

"There are so many people who have kids with disabilities – they are angry and bitter, but you just have to embrace it.

"I am lucky to have been given Jake, and have become a better person for it.”