Our Journey with Kleefstra Syndrome

Have you ever wondered why you are on this earth? I know exactly why I’m here.

In 1977, my husband, Tony, and I had a thriving fashion business, a beautiful home, and two amazing kids. Life was complete. Or was it? Out of the blue, I became obsessed with having another baby. I knew that I just had to have her—of course, I knew the baby would be a girl.

From the moment she was born on September 5, 1978, our lives were changed forever. Just one look at my little angel with big brown eyes and deep dimples like her dad… it was game over. My ‘teacher’ had arrived, and I was on a steep learning curve to learn patience, love, and understanding at a level never before encountered.

A natural gift for music

Jacinta started learning to play the piano at four years of age. She took to music like a duck to water and was reading music at five years of age. She learned piano for 27 years and achieved Grade Six. Tony and I often joked that we helped her music teacher build a new extension on his home.

Growing independence

She later attended Special Education Units in mainstream schools and completed Year 12 and numerous hospitality courses. She was fairly independent and enjoyed going to TAFE maths and literacy classes, working in a supermarket, travelling on public transport, and meeting with a few friends and a social worker on weekends for movies, lunches, and concerts.

The search for answers: Kleefstra Syndrome

In 2019, Jacinta was invited to join a Mito Flagship Study. Finally, we got a diagnosis just after her 41st birthday while she was in the hospital. She was diagnosed with ‘Kleefstra Syndrome’, often shortened to ‘KS’. We certainly weren’t expecting that. There was no cure, and we became pioneers on a less beaten track of a rare genetic condition.

There are only about 800 people in the world with KS (34 in Australia), and Jacinta may possibly be the oldest person. She is now 47, but still looks like a teenager.

Navigating today's challenges

She is now suffering from regression and is afraid to leave her home, where she has 24/7 support. This picture was taken just before her regression started.

Every day is a trial… and a blessing!

Dawn – Jacinta’s very proud mum