As a newborn Jackson certainly put his parents through their paces, but it wasn’t until he was six-months-old they began to realise the extent of the challenges that lie ahead.

Initially diagnosed with cerebral palsy, the family eventually discovered Jackson has the extremely rare genetic condition Pelizaeus-Merzbacher Disease or PMD. Mum Joanne and dad Scott share their story.

“At five months we began to notice Jackson had muscle looseness in his core and in his neck,” said Joanne.

“He just struggled, he had a head-lag so he couldn’t support his head.”

With Jackson not gaining weight as he should after a difficult first few months, he was eventually referred to a paediatrician.

Scott said: “I think we went expecting them to say ‘give it a few months and it’ll be alright’ but she looked at him and straight away said that he’s disabled. It was a shock that day. I probably spent the next two days crying.”

Jackson was unofficially diagnosed with cerebral palsy, and for the next 18 months the family had appointments with various medical practitioners as they searched for a definitive diagnosis. When he was two, he had an MRI scan which led to a late night phone call from their paediatrician. 

“She phoned up at about 11 o’clock at night and said I’ve just got the news that he hasn’t got brain damage, so it’s not cerebral palsy. Then she told us it was a condition characterised by nerve damage called hypomyelination.”

The diagnosis, which covers hundreds of specific conditions, left the family searching for answers.

“I spent a lot of time researching his symptoms and then after about two weeks I came to the conclusion that it was PMD,” said Scott.

“We went back to them and said we think it’s this (PMD). We asked them to perform a blood test, which confirmed what we’d suspected.”

Jackson’s family then had to come to terms with the devastating diagnosis.

“Whereas cerebral palsy is static, this is regressive so gets worse with age. There’s still varied degrees of how it affects people; some can die in childhood but others live until their 40s or 50s.”

“There are no treatments,” said Joanne.

“It affects him a lot as he doesn’t have full mobility. He struggles getting himself around. He is able to use a walking frame but he’s struggling a bit more because he’s getting stiffer.

“It affects his speech a lot too. His understanding is amazing but he struggles to tell us what he’s thinking.”

The family were introduced to Bluebell Wood when Jackson was three-years-old, and their only regret is that they didn’t visit sooner.

“Initially we thought wow – there’s somewhere we can go and get support.

“They had activity groups and sibling support for Jackson’s sisters Paige and Maddison too which was really helpful.

“The first time we visited there was a family fun day which was brilliant. Jackson loves it – all the activity and just Bluebell Wood as a whole. He loves the electric car too.

“After our first visit we came back and stayed for four nights. Being a bit over protective we’d never really let anyone look after Jackson in the past, so it was lovely to have the support and to not have to tidy up and cook.

“And Jackson got the run of place and was able to use everything. He likes the music room and the cinema room in particular. It is like a holiday for us.”

Jackson and his family plan to take full advantage of what Bluebell has to offer going forward, while taking his condition one day at a time.

“You just have to deal with the changes in his condition as you face it, and get the best advice and help you can.

“That’s why we’re so grateful to have Bluebell Wood’s support.”