The story of Austin
Hi my name is Austin, I am 19 and live with DYRK1A Syndrome.
It wasn’t until 6 years ago that my family was provided with this clarity, following whole exome sequencing, somewhat ending our diagnostic odyssey.
So what is DYRK1A?
It is a non-inherited condition caused by a de novo mutation of the DYRK1A gene. The DYRK1A gene is associated with brain growth. Features of DYRK1A may include: microcephaly (small head), seizures, intellectual disability, speech delay, short stature, ritualised behaviour and/or autism, feeding difficulties, and common facial features and overall a mostly happy disposition.
It has been estimated that potentially 0.1% of the population diagnosed with Autism Spectrum Disorders (ASD) may have DYRK1A Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK333438/), which would mean that about 170 people in Australia live with DYRK1A Syndrome yet fewer than 20 people have received a formal diagnosis. Globally we are now connected to over 500 people and their families and it is often our go to for learning more about how we as a group engage with the world we live in.
We hope by sharing my story, others may continue to search for a diagnosis, as we understand how empowering this can be.
We encourage the medical community to continue providing hope, answers and treatments for the rare community into the future!