Four-year-old Blayde Arnold from Te Puke has a huge entourage of specialists, endless medical appointments and physical therapy treatments. It’s all to make his life the best it can possibly be.

Blayde’s parents Marissa Mason and Scott Arnold said their son was born with Emanuel syndrome, an extremely rare chromosomal disorder. It disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone, are slow to gain weight and their development is significantly delayed.

Marissa said in Blayde’s case it had affected organ development, muscle tone, sight and hearing.

Tests during pregnancy highlighted a possible issue, but a history of miscarriages meant Marissa was reluctant to undergo amniocentesis.

We didn’t know

“We thought maybe he’d be a bit quirky. We did a Down syndrome test and he didn’t have Down syndrome and we thought: ‘Maybe it will work out’ but we should have been wondering what it was. When he was born, we didn’t know straight away,” she said.

Blayde was born in Waikato Hospital where he stayed for two weeks, but five days after he came home his airway collapsed.

Four-year-old Blayde Arnold and mum Marissa Mason. Photo / Stuart Whitaker

“He was resuscitated by his father – then there was a lengthy stay in hospital before we could get his airway to stop collapsing all the time because of his low muscle tone.

His airway stabilised as he gained strength, and he returned home, Marissa said.

“He was like a noodle in the beginning – that’s the only way I can describe it – he was just very floppy. He couldn’t hold his head up – he’s still got a bit of a tilt.”

Everything changed

Needless to say, virtually everything in Marissa and Scott’s life has changed.

“Before Blayde, this world was foreign to me and I felt like I’d been walking around with my eyes shut, because I never knew how many syndromes were out there.”

When he was born, Blayde had a cleft on the inside of his mouth, which made feeding very difficult, Marissa said.

“It was a bit of a mission, but we got him eating and once the surgery was done at one and half [years old]. It was a game-changer, he could eat so much better.”

There is “an amazing team” at Tauranga Hospital working with the family and support from organisations like Deaf Aoteaora and Blind Low Vision NZ.“

Riding for the Disabled has been amazing for him, that’s helped him balance, and all the physio work we do – [the house] was like a physio centre here with all the equipment,” Marissa said.

“He never used to be able to use his hands, he just kind of whacked them in front of his face. Now, he’s learning to grasp. But any natural ability didn’t come naturally, we’ve just had to teach him.

Blayde’s world, a fundraiser to raise money for treatment for Blayde Arnold, will take place in Te Puke on November 22. Photo / Supplied

“He’s come a long way and he is going to walk – it just takes time and lots and lots of therapy.”

The goal

Marissa said the goal this year was to get Blayde to be able to stand independently, holding onto something, as part of his preparation for starting school.

He is having intensive therapy at the Centre of Movement rehabilitation centre in Rotorua. The family want him to be able to get around at school as “he still needs to be a kid”.

“He’s still very wobbly. We’re close, but he needs that intensive block of therapy every day, which comes at a price tag which is why we are doing the fundraiser.”

The fundraiser is Blayde’s World on the afternoon of November 22, World Emanuel Syndrome Day – at 26 McBeth Drive. Tickets are $10 each.

Into community

“It’s just every day steps to get him as able as possible, that’s why now we are trying to get into our community. For the last four years we’ve just been head down, trying to get him mobile or eating and we realise the community doesn’t know him and he’s going to school and we need to rely on them as well.”

Blayde’s World is going to be “party time”, said Marissa. “There’s lots going on and people have just been amazing, coming together to support us. It’s quite overwhelming how people have come together to support Blayde, we are very lucky.”

Among the attractions will be live music, more than 20 market stalls, food trucks, a dance group called Inclusion, rides in a wagon behind a team of Clydesdales, a dunk tank, face painting, spray tattoos, a bouncy castle and lots of raffles and giveaways.

“The dance group is made up of young adults and teens with additional needs and it’s quite inspirational when you have a child like Blayde, it’s cool to watch and this could be our future one day.”

Never stop trying

There will be prizes for the best costumes featuring purple and blue – the Emanuel syndrome colours.

Marissa said progress can be very slow. “But we never stop trying. We’ve had to change our lives a lot, but he’s our kid and we wouldn’t have it any other way.”

See the Blayde’s World pages on Facebook and Instagram.