Five-year-old twins Kathryn and Alexander Hazeldine have a special bond. Photo / Ben Fraser
It's the long curly hair you notice first as it falls around Kathryn Hazeldine's face.
It's unusual considering her twin brother, Alexander, has straight blonde hair.
It's not the only difference that separates this 5-year-old set of twins.
Alexander doesn't walk, he runs, and he pulls his socks right up to his knees. He also builds huts, has freckles that cover his cheeks and loves his sister whom he affectionately calls Deedee.
Kathryn, on the other hand, sits quietly with her mum. She plays softly while scanning the room with her eyes. Her legs are still.
When the little girl laughs she tilts her head back and her whole body shakes. It's infectious and yet it's the only loud noise she has made all morning.
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Kathryn is the only person in New Zealand who has chromosome 8p inv dup del - a rare genetic condition which has left her unable to walk or talk.
She is one of just 80 people worldwide with the condition.
It has caused isolation for her family and left many questions unanswered as doctors around the world scramble for knowledge on this under-researched condition.
"It's quite nasty sometimes because you look at Kathryn and think 'wow she's clapping her hands' but you look at Alexander and he is intricately cutting something out," her mother Jo Liddell told the Rotorua Daily Post.
But last month - for the first time in her life - Kathryn met people who looked more like her than her brother.
She was at a conference in America, the first of its kind, which aims to fund new research programs for chromosome 8p.
"When we walked in, this man was holding a young girl that was an absolute replica of Kathryn. And it was weird to see Kathryn more alike to her than to her own twin.
"Going there was like a family reunion. We never thought we would meet anyone with the same condition because it is so rare and then suddenly we were in a place where it was common."
Kathryn met 63 of the 80 children known to have the condition, all of them with curly hair just like hers.
The doctors in the new research programme, known as the non-profit Project 8p, will publish their findings by the end of this year.
Liddell hopes it will bring them a step closer to understanding the disorder.
"It's just the moments when she is really upset and she can't tell me what's wrong. That's when I really want a cure.
"I would love more communication," Liddell said.
Looking back, the Rotorua mother had always expected she would have twins, even after having three children and having no history of twins in her family.
"I always threatened Stuart I'd name them Kathryn and Alexander so when I fell pregnant, I knew."
"At my 12-week scan, they noticed Kathryn was a lot smaller than Alexander and they told me she might disappear by the next scan," Liddell said.
But she didn't.
Just moments after Kathryn's birth Liddell got the "first fright". Her hands were completely folded over to her arm, a skill she still has now.
"And then it was all these little things, like a hole in her heart and she had fluid around her heart, really bad jaundice, struggled to feed and had different feet."
Liddell kept asking her doctors if something was wrong with her new baby but said no one would say anything as to not ruin the "newborn stage".
But three months later, after a microarray test mapped Kathryn's genes, she was diagnosed.
It's just the moments when she is really upset and she can't tell me what's wrong. That's when I really want a cure.
Liddell remembered the devastation at that moment but said it wasn't something to dwell on - she had to keep moving forward.
"It has blessed her with beautiful long curly hair and gorgeous eyebrows so it's not all bad."
But it's hard not to compare her cognitive progress with Alexander as the busy body zooms from one room to the next.
"They started off as twins and on the same trajectory. But now Kathryn is basically not his twin any more - she is miles behind.
"Inside our day-to-day life, this is our normal so I do forget about it. It's the outside world that shocks me."
And the outside world can be cruel.
Liddell would like a ramp so she doesn't have to haul Kathryn up the steps but, with no funding, they are looking at a cost of $40,000.
While Kathryn can stand if she is holding on to something, she can only "bum shuffle" around at best so it is a world of constant lifting for Liddell to get Kathryn from A to B.
When picking a daycare, often the staff would tell Liddell they would accept Alexander but couldn't accept Kathryn because of her condition and the special care it entailed.
And that means Liddell spends most of her time with Kathryn, while her partner Stuart works and her other four children, including Alexander, are at school.
"We just don't fit in anywhere. Not even disabled areas.
"When we went to the parade for the royals they said, 'sorry you're not welcome here because it is only for a caregiver'."
But it's obvious she doesn't come with a caregiver - she comes with a family.
"I've come to hate the words inclusiveness and support. I feel like we hear a lot of words and not a lot of action."
Despite everything though, there is hope.
Those who were first diagnosed with the condition in the 90s have improved, learning to walk and talk later in life with the help of therapy.
While Kathryn may be trapped in her body right now, the 5-year-old is expected to live a life as full as her brother.
Although her leg muscles aren't strong yet, her bowels are. She is toilet trained and is making progress with her crawling.
I've come to hate the words inclusiveness and support. I feel like we hear a lot of words and not a lot of action.
She uses sign language for the word "finish" and is trying to use sign language for "food" which Liddell thanks her time in New York for.
"She got two on one time with us which she never has."
And while she has epilepsy as a result of her condition, Kathryn's quite content sitting quietly with her mum.
"I've always said she is a princess, happy to sit there and be fed the grapes."
Kathryn Hazeldine has a rare genetic condition in which there is an extra copy of part of the genetic material that makes up the body's chromosomes and a missing copy of another part of the genetic material.
Like most other chromosome disorders, this does increase the risk of birth defects and developmental delay but the outcome for each baby is quite individual.
For Kathryn, her muscles are not strong enough yet to enable her to walk and she can't talk. She is also epileptic and finds it hard to regulate her body temperature.
Auckland University's Dr Whitney Whitford is an expert on human genetics and, in particular, copy number variants.
She said while she was not aware of Kathryn's specific condition, that was not unusual given the high volume of varying chromosome conditions.
"A neurotypical person walks around with over 1000 copy number variants yet most of them are not doing anything."
For Kathryn, chromosome eight is normal but there is an extra copy of part of the short arm of the other chromosome eight. This is called duplication.
In addition, the end of the short arm of the other chromosome eight is missing. This is called deletion.
The extra duplicated part runs in the opposite direction to what is normal and is called inverted.
"Basically the DNA has looped across itself and then pinched together in the wrong place and that is how you get the initial copy and then the duplicated region and the deletion at the end," Whitford said.
"It is a mistake that has happened when the DNA was replicating."
Whitford believed it would be hard to find a cure for the condition in Kathryn's lifetime but felt assured that with the right support, Kathryn would be able to walk and talk one day soon.
"For someone like Kathryn, it affects multiple systems in the brain and the nerve cells. Even if there was something that we could fix, to get that to all the cells isn't really plausible."
Mother Jo Liddell believes Kathryn will eventually be able to lead a full life.
"I've got every parent's goal of happiness but I would love every parent's goal of independence.
"She is more work. It's like looking after a 9-month-old that is much heavier."
So, for the moment, while Alexander sprints past with his socks pulled up to his knees, Kathryn giggles, perhaps knowing one day she'll be right behind him.
• 35 genes deleted
• 172 genes duplicated
• Anomalies of the feet
• Heart murmur
• Speech delay or absence
• Developmental delay
• Epilepsy
• Poor temperature control
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