The start of the Doran family story is no different than most: a hospital room, a breath of life and a new baby girl.
But Collyns Doran, now five, had a ridge on her forehead - the first indication that the Prince George child would not lead a typical life.
"As soon as I pushed her out we have kind of been on this journey although it has definitely had several different branches to it," said her mother Susan Doran.
At the root was a rare disease which had no name. Collyns was developmentally delayed, both in language and motor skills.
Then in June 2015, they enrolled in the CAUSES Research Clinic at BC Children's Hospital as one of 500 families in a million-dollar pilot study that tested family genomes for any of the thousands of known rare disorders.
"I was excited because it was almost like we could finally do something. We had gone through a period where there was no tests, there was no trying to figure stuff out," said Doran.
"We were just waiting."
Listen to Susan Doran discuss diagnosis, the unknown, celebrating milestones and dealing with loss:
One of eight among billions
In late December, the Dorans got their answer: Collyns had Bainbridge Ropers syndrome, a disease so new, it was discovered only two years ago.
And, she was one of eight known cases in the world.
"It's good that she has a diagnosis but on my end there's still so much we don't know," said Doran.
Here's what they do know: Collyns has a mutation in her ASXL3 gene.
It's known as an "operator gene" because it controls other genes involved in multiple bodily systems.
"It tells other genes what they need to be doing which is why we are seeing such a global delay with Collyns because she's got issues with fine motor skills, issues with language, issues with gross motor skills and that's why we're seeing quite the wide range of delays," Doran said.
Doctors described it as a "spelling mistake," she said.
"When you look at the human DNA we have three billion letters in our genome," said Wyeth Wasserman, executive director at the Child & Family Research Institute at BC Children's Hospital.
"There's enormous space to look in for potential disruptions or mutations that would impact health."
The Prince George family was the first in line in the study, funded with $3 million from Mining for Miracles and $1 million from Genome British Columbia.
"It's always lovely when the first one in the queue works," said Wasserman.
"There were a lot of smiling doctors in the room."
He's never met the Dorans (the DNA specialists are kept separate from the clinical cases), but Wasserman is very familiar with Collyns' unique characteristics.
Their case is evidence of how quickly the science is moving. Take the ASXL3 gene.
"That's a gene that was discovered only two years ago as being a cause of disease around the world," he said.
The science of discovery
Genomic sequencing can lead to diagnosis of 30 to 40 per cent of the cases, if similar research is any indication, said Wasserman.
In contrast, geneticists without the benefit of genomic technology typically diagnosed between 10 and 15 per cent of patients.
"We're hoping to double it," he said, and then double that again when the database of rare disorders grows to include more of the disorders and new discoveries are made.
"When a disease gene is identified in the literature, the global community deposits that information into a couple different databases that are shared around the world," he said, which are then used after a family's DNA is sequenced.
"We look for mutations or inherent inherited genes that would be consistent with the case by taking all of the differences present in the family and the child and then comparing them against the database of reported disease genes."
Before genomics, doctors would have to troubleshoot through known cases to try and discover commonalities. In Collyns' case, there was only one published paper that discussed her reality.
"When you think about that, no way that a clinical geneticist is going to be on top of one paper out of the million papers published each year," said Wasserman of the old ways of diagnosis.
"My hope is that we will be able to use this for every child in B.C. that has a parent with a genetic disorder," he said, instead of waiting for parents to discover their child is developing differently, doctors can diagnose earlier and quicker. "We can use the technology from the beginning."
Searching for answers
Of course "diagnosis" leads to a number of different paths. For some it provides clarity with a name, for some it will impact family planning and for some it will offer new ways for treatment.
"Those are the most exciting ones because the knowledge is leading to potentially better outcomes," Wasserman said.
The Dorans fall into the first category.
"I don't think our path is really changing. It's all about finding her support, finding her people who can help her grow. That's been our goal from the beginning.
"I think diagnoses can be used as a tool to get there... now I have no idea. I'm still struggling with trying to find funding," said Doran, whose husband is building an accessible home in Pineview in case Collyns will need a wheelchair.
With so few children with Collyns' diagnosis, it's hard for the Dorans to imagine what the future will hold.
"I hope, I hope, I hope that she walks and I hope she talks," Doran said.
"I have the biggest fear of people picking on her and she's not going to be able to tell anybody because she can't communicate.
"You have typical mom fears and then I think people with special needs children have that additional fear that people will take advantage of them."
In the meantime, the Dorans will continue to celebrate little milestones, like when Collyns used her pointer finger to open an iPhone icon.
"It's such a yoyo," Doran said.
"We celebrate so hard the things she does achieve, but it's such a sense of loss when you see other kids who are way younger who have achieved that so much sooner.
"If Collyns is happy, if she's healthy, if she's supported - that's what I care about and that's what I strive to achieve."
