By Naomi Sirianni
Pot luck. It’s just pot luck.
Those words bellowed out of our geneticist’s mouth 6 years ago. Words we won’t forget.
Our youngest son Archer is 10 years old and has a rare genetic syndrome called Coffin-Siris Syndrome.
These rare syndromes stay relatively unknown but all due to the lack of exposure.
Coffin-Siris Syndrome also known as CSS is typically characterised by abnormalities of the head and facial features such as a wide nose, wide mouth, thick course (and beautiful) eyebrows and eyelashes, and excess hair growth.
In addition is all the fun stuff – short stature predominately in females, short or undeveloped 5th digit anomalies, respiratory issues, epilepsy, intellectual disability, global development delays, autism and vision/hearing disorders.
10 different gene mutations make up CSS and as it currently stands approx. 500 cases worldwide documented via an international registry.
Pretty rare right? Here is a little story for you –
My husband works in the public sector, in a big ol’ building in the city with thousands who pass in and out each day.
It was a few years ago now; he was headed to the pub to have lunch with his team who had already left the building.
He was in the elevator heading out and saw a flyer for a BBQ fundraiser on Level 3 for Men’s Health.
He opt’d out of going to the pub without further thought and even though he knew he would know no-one at this BBQ he just wanted to grab a quick snag (sausage in bread for any internationals out there) and get back to work.
He ended up seeing one bloke in amongst hundreds, that he knew and waltzed on over for a polite quick chat.
This colleague was already talking to a group of other men and before he knew it the group chat became about Archer.
In conversation my husband said we had received a diagnosis. Coffin-Siris Syndrome.
One of the men within this small circle blurted out… “ahhh my daughter has Coffin-Siris Syndrome”!
WHAT! Both men were speechless and overwhelmed.
No more was said as they both turned emotional. At this point my husband said ‘give me your email address’ and left.
They were in touch over email later that day, hours after assessing and letting it all sink in.
Both blown away, they couldn’t wrap their heads around what had just happened.
The rarest of rarest syndromes, two blokes working in the same building, worlds apart personally and demographically just happened to both have children with CSS.
This family was from rural Victoria, the father was doing temporary work in the city for 3 months, they didn’t have Facebook at the time and were not on any of our CSS pages or groups.
Let’s just say now they are!
What are the odds? The chances of this quick conversation happening? A sliding doors moment perhaps.
It truly blew our minds and goes to show how very important talking, advocating, being open about disability and exposing all its flaws may change the outcome for another family’s journey.
Or perhaps like our geneticist said to us 6 years ago, it’s pot luck! Damn straight it is doc!
January is Coffin-Siris Awareness month.
Coffin-Siris Australia Foundation is a NFP organisation connecting families and loved ones across AU & NZ for support, guidance and to develop further knowledge on this rare syndrome.