Article by: Leah Tebbutt – https://www.nzherald.co.nz/nz/news/article.cfm?c_id=1&objectid=12248739
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.
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.
Kathryn Hazeldine is the only person in New Zealand who has Chromosome 8p inv dup del.
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.
Five-year-old twins Kathryn and Alexander Hazeldine have a special bond. Photo / Ben Fraser 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.