Alexandra’s Story

This is Mum Peta’s Story:

“Alex was born on the 25th of July 2006 after an average, ordinary pregnancy. Her life started in a blur of intervention while in fetal distress during delivery. Preliminary diagnosis was meconium inhalation and after 8 days in our local special care unit she was discharged. When Alex was 2 weeks old, she was rushed back to hospital where she was promptly airlifted from our regional hospital to the Royal Children’s Hospital in Brisbane. Over the course of the next 3 months Alex underwent laser airway surgery to correct a severe case of laryngotracheamalaci as well as heart surgery to correct a coarctation of the aorta using a patch of donor heart tissue. Despite involvement by multiple medical teams including genetics, no overall answer was found to explain Alex’s multiple congenital presentations.

As Alex grew it was clear to see her development was behind that of her peers. Alex sat at 11 months, walked at 24 months, and developed speech at 5 years of age. During her toddler years she experienced more health issues, predominantly gut related including malabsorption leading to a long stint on TPN. During that particular lengthy admission, she came down with septicaemia, jugular blood clots, bradycardia, and a host of other potentially life-threatening complications. Again, genetics were involved yet could not find a name to put to Alex’s collective condition.

As the years continued so did the appointments and intervention. Alex was diagnosed with epilepsy (absence, tonic clonic and atonic), central sleep aponea (for which she is oxygen dependant for sleep), unidentified malabsorption (tube fed supplement feeds through mic-key button), hypotonia, perthes disease, Autism, ADHD, ODD, intellectual impairment as well as the heart disease and a range of ENT related issues. When Alex was 8 years old, we again met with a genetics team from RBWH who decided to send some DNA samples off to a research team in America who were working on a study involving a select few conditions. As Alex seemed to fit the general outline of the study requirements, her case was taken.

It was many, many long months before results were in, confirming that Alex did indeed have Coffin-Siris syndrome, varient Arid1b. We had a diagnosis after 8 long years!!!

While the diagnosis didn’t change the care that Alex’s many medical and allied health teams provide, it did offer us a chance to learn more about the common factors effecting our CSS kids and to connect with other families of children with CSS through a Facebook page. The diagnosis also offered us a sense of relief. Relief to know that Alex’s condition isn’t degenerative, that our battles are fierce but can be overcome.”

Describe your fondest memory as a family:

My fondest memory as a family has to be camping at Inskip Beach. Sand, sun, and beautiful water.

What’s your favourite movie to watch as a family?


What’s your favourite activity to do as a family? Why?

We love to swim together, either at the beach or pool. Everyone enjoys the water so much.

What’s your favourite song/album to listen to as a family?


What’s your favourite family tradition? Why?

Summer beach trips with the kayaks, camping trips and exploring parks is something we do whenever we get a chance.

What quote do you live by?

Do your best!

What does a day in your life look like?

Daily life is hectic! We have 3 kiddos at 3 different schools/day-care, an amazing little dog ‘Peppa’ who demands to be included in everything.

2022 has started off a bit bumpy with extended school holidays, a family case of covid and 2 floods! So, we’re hoping to welcome back some normality in the coming weeks.