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)