Lee Reavey (Co-Founder/CEO - NCBRS Worldwide Foundation)
Many families affected by Nicolaides-Baraitser syndrome have waited a very long time for a diagnosis. Being a rare syndrome, with fewer than 200 confirmed cases worldwide, it is not widely recognised even amongst medical professionals. The process of searching for a rare diagnosis can be like searching for a needle in a haystack, particularly when many symptoms can overlap with those of other syndromes.

Although increasing numbers of individuals are now being diagnosed at a young age by whole exome sequencing, this form of genetic testing is a recent development. The availability and costs involved mean that this is still not an option accessible to everyone. This is why we at the NCBRS Worldwide Foundation are so supportive of the FaceMatch project, which uses facial recognition technology to help people with rare conditions to get an earlier diagnosis.

Many of our childrens' diagnoses came about via non-traditional methods including remarkable coincidences or social media connections, most after several years of not knowing what was wrong. My own child was 2 years old and undiagnosed, attending Great Ormond Street Hospital for Children (GOSH) in the UK, when he was noticed by a geneticist familiar with another NCBRS child. This led to his clinical diagnosis and finally, a genetic diagnosis at age 7 after the gene had been identified. Another mother in our group suspected her undiagosed 6-year-old son had NCBRS after seeing a lookalike child on a popular social media page. Her persistence in following this lead gave doctors a starting point for genetic testing and finally, a diagnosis.

While these stories are heartwarming, they are certainly not the norm and better options are needed. We are the lucky few who have a diagnosis and have found each other, yet we are certain there are so many more future members of our NCBRS family still searching for their answers.

We encourage all our NCBRS families to register with the FaceMatch project to help give others the chance to receive the early diagnosis they deserve.

Lee Reavey (Co-Founder/CEO - NCBRS Worldwide Foundation)

NCBRS Worldwide Foundation
Heather Renton (Founder and Executive Officer - SWAN Australia)
What would you do if your child was undiagnosed? This is the reality for many Syndromes Without A Name (SWAN) families. Genome sequencing is not available to everyone and even with access to advanced testing, 40-60% of SWAN children remain undiagnosed.

Parents want to do everything in their power to find an answer and this where FaceMatch can assist with diagnosing more SWAN children/adults. FaceMatch is a non-invasive way of searching for a genetic diagnosis by using facial recognition software to identify genetic conditions by searching dysmorphic (unusual subtle or distinct facial) features. Families who have received a diagnosis are also encouraged to upload images of their children in the hope that they can assist with diagnosing more SWAN children/adults. The more people that are diagnosed, the more that will be diagnosed. A diagnosis has the potential to change health care and treatment plans for patients.

As a parent of a child who didn't receive a diagnosed until the age of 9, I am a huge supporter of FaceMatch and wish it had been available at the start of our diagnostic odyssey. I encourage all SWAN families to utilise FaceMatch in conjunction with their doctor/genetic counsellor in the hope that more children/adults received the diagnosis they deserve.Heather Renton (Founder and Executive Officer - SWAN Australia)
FaceMatch will assist families or parents of a child with a rare genetic condition in their search for a diagnosis. Together, the rare disease community and the FaceMatch team can help make this a reality.Dr Mike Field, Director of NSW Genetics of Learning Disability (GOLD) service, Australia
HSarah Lyon
When our son was born we went through an agonising period of having no diagnosis during which we anxiously waited for someone to tell us what our child's future might look like. Facematch will help give other people the chance to find some peace of mind.
Sarah Lyon