When Jasper Lyon was born last year it was immediately clear he was not well.
After being flown from Port Macquarie, on the NSW north coast, to the Paediatric Intensive Care Unit at John Hunter Hospital in Newcastle shortly after his birth, the baby boy spent two weeks in Neo-Natal Intensive Care before he was allowed home.
But the reprieve was short-lived. Jasper suffered seizures at home, including one so severe he stopped breathing and had to be resuscitated by his mother, and he was taken back to John Hunter.
There, along with the care of incredible staff at the PICU, Jasper also received an early diagnosis of the extremely rare genetic condition of Costello Syndrome.
Unfortunately not all children born with rare syndromes are able to get a diagnosis so quickly. Dr Tracy Dudding-Byth hopes to change that.
Dr Dudding-Byth is a geneticist with NSW Hunter New England Health and sees families everyday who are struggling to get a diagnosis for their child. As a mum to a daughter with a rare genetic condition herself, she empathised with these families and wanted to help more - FaceMatch was the result.
FaceMatch is a secure online facial image library that was created to assist clinicians to diagnose children with rare syndromes who have intellectual disabilities as part of that.
However, since its inception, the scope and hope for the project has widened.
"FaceMatch was initially intended for clinician use only," says Jasper's mum, Sas Lyon. "But when they saw how it worked with Jasper and how amazing it's been as a diagnostic tool for other children, it changed to become a parent driven tool."
How does Facematch work?
"The software used is based on facial recognition," says Dudding-Byth.
"Parents upload pictures of the front and side of their child's face and their hands and feet. The software then cross matches them across the library and generates a report.
"This details if the child has a match, whether it's small or large, with a certain syndrome based on these genetic markers of the syndrome."
While Dudding-Byth's work is still classified as a research project , her team have started offering the service to developing countries where access to genetic specialists is limited.
"The idea is that people all over the world can access high level clinical diagnostics," says Dudding-Byth.
"In countries where families don't have access to geneticists or clinicians, they can potentially find a diagnosis and link with other families through social media."
Dudding-Byth notes that the social media community around the project is also parent driven and will act as a brains' trust outside of the clinical diagnosis. Parents can offer advice to others on who to reach out to or provide clinician recommendations.
Parents can also ask clinicians questions or advice on behalf of someone who doesn't have access to one.
"The aim of this community is to create parent to parent support that can sit alongside the FaceMatch tool because parents of children with these syndromes are the experts," says Dudding-Byth.
"We want parents to be part of a support network where they can gain and offer information and advice. We want to assist them find their own genetic tribe where they can help their kids thrive through the effort other parents have put in previously."
Early diagnosis is vital
Early diagnosis of a rare syndrome through FaceMatch means that children will be given the best opportunity to thrive. Parents can better educate themselves when they know what they're dealing with and better long-term health plans can be made.
Without diagnosis, the outcomes for these children and their parents may be quite different. Lyon knows this only too well.
"Before Jasper was diagnosed, the doctors thought he would never leave hospital but, when diagnosis came, we got a lot of answers," Ms Lyon says.
"Research papers helped us to understand his syndrome, why all the things were happening and what needed to be done to get him through that part of his life.
"This diagnosis helped us understand the short and long-term implications for Jasper and gave us hope. It also changed the way he was treated. Other parents deserve the same."
Diagnosis benefits everyone
Lyon notes that, from a financial perspective, FaceMatch also has benefits for parents and the healthcare system. Without a diagnosis, many insurance companies won't fund further genetic testing. A more concrete diagnosis can change this.
Similarly, early diagnosis and interventions means better outcomes which puts less pressure on the healthcare systems long term. Likewise, FaceMatch doesn't need financial maintenance or upkeep and, by assisting with diagnosis, it frees up clinical offices and appointment for people who are desperate for them.
"The technology of FaceMatch is just mind blowing and will only get more advanced as more images of children are uploaded," says Ms Lyon. "The people behind this are incredible.
Being a parent to a child with a rare syndrome can feel very isolating and frustrating, but this technology and this team could help change that. It can bring hope to us all."
FaceMatch is inviting two groups of parents into the project.
First, Parents of children or adults with moderate to severe developmental delay or ID who have a confirmed genetic diagnosis.
Contributing to the FaceMatch project will improve our image database and help other families still searching for a diagnosis.
Second, Parents of children or adults with moderate to severe developmental delay or ID who remain without a genetic diagnosis following review by a medical specialist