Understanding Austin28 February 2019
For 13 years Tracey knew her son Austin had a rare disorder but she didn't have a diagnosis for him, until the genetics team at Sydney Children's Hospital, Randwick had a breakthrough. This Rare Disease Day, read their story and find out what a difference a diagnosis can make...
"We didn’t know what each day would bring. And we didn’t know if this rare disease ran in the family and would impact family members ready to have children. It was like being lost.
Still we did what we could, taking one step at a time.
Until early July 2017 when we received one of the most exciting calls from our genetics team at Sydney Children’s Hospital, Randwick saying the results of our son’s latest tests were in.
Finally, they had an answer for our son’s developmental delay. We had been through countless tests over a period of 13 years, always searching for answers.
When we met with the team I was nervous of what the future may now hold for our son Austin. At the same time my husband and I were mostly excited to hear what the team had to share with us. On so many other occasions the answer was always, 'We still don’t know and maybe in a few more years we may have an answer.'
The latest test, exome sequencing, is a technique used to sequence all of the protein-coding genes in a genome. It revealed that Austin had a mutation on chromosome 21 that was linked to a condition, known as DYRK1A Syndrome. Austin was one of only two children in Australia identified with DYRK1A Syndrome, and one of fewer than 150 people worldwide.
The diagnosis for us was immediately empowering. We started to learn more about DYRK1A Syndrome and were also able to connect quickly with the global community via Facebook. For the first time we could connect with other families living with this rare disease, and just seeing the facial similarities in these kids was amazing.
It’s like a piece of the puzzle slipped into place.
The question now was with a diagnosis would anything change? What should we expect? Was there a treatment? Upon diagnosis we listened and read about the common features of DYRK1A Syndrome, including intellectual disability, Autism Spectrum Disorder, microcephaly (small head), anxiety, febrile convulsions, epilepsy, prominent ears, deeply set eyes, speech delay and feeding difficulties. It was like having a ticked box for many things Austin had experienced but we had never had an answer as to why.
While currently there is no specific treatment, with a diagnosis comes better understanding. A group of identified patients helps the medical and scientific community understand the disease better.
With diagnosis also comes less isolation. Via the DYRK1A family & friends Facebook page we quickly became a part of a global community that helped us feel part of a group and part of a solution.
Having better access to timely diagnosis, will come earlier access to treatments, helping families like mine live a more fulfilled life.
We hope by sharing our story others may be encouraged to keep searching for a diagnosis, as we now understand how empowering this can be. We take comfort in the fact that the scientific community will continue its quest to search for greater understanding and potentially treatments for rare diseases, like Austin’s.
Ultimately what I want for my child is what others want for their children; for Austin to be loved and supported, to be capable of loving, to be a contributing member of society and to be happy." Tracey, Austin's proud mum.
Exome sequencing at Sydney Children’s Hospital, Randwick has been funded with the help of our supporters. Find out how you can help kids like Austin.