Isabella Parisi spent the first year of her life in and out of the hospital.
She was born with a trachea oesophageal fistula with oesophageal atresia – a feature of 22q11.2 deletion syndrome.
After being diagnosed with the syndrome when she was 22 months old, Isabella found solace in horses and equestrian riding.
“I started riding when I was about 7, but I stopped for a few years until I was 13 years old,” Isabella said.
It was then that she started to compete in dressage, a form of mastery horse riding performed in exhibitions and competitions.
Next year in June, she’ll be taking on the world with a smile when she competes in equestrian for Australia in Germany at the Special Olympics World Games, which is held every two years.
With more than five million athletes in 174 countries, the Special Olympics is the world’s largest sports movement for people with intellectual disabilities and multiple disabilities and is officially recognised by the International Olympic Committee (IOC).
“I love being with my ponies more than anything,” Isabella added.
“They make me calm and happy.”
22q11.2 deletion syndrome affects one in 1000 births and is one of the world’s most undiagnosed syndromes because it has so many symptoms.
It is also called DiGeorge syndrome, Velocardiofacial (VCFS) syndrome, and Shprintzen syndrome, and is one of the most prevalent genetic syndromes in Australia, second only to Down syndrome.
The condition, abbreviated to 22q, occurs when a piece of DNA on the 22nd chromosome is missing.
22 November is Australia’s annual 22q national fundraising and awareness day, titled Pink and Blue for 22q.
The day is organised by the 22q Foundation Australia and New Zealand to highlight the little-known genetic condition.
Emma said the 22q Foundation really supports her and her family.
“The foundation really supports my parents by providing information about new issues that might arise with me,” Emma added.
“They also connect them with other parents that may assist them with questions about the syndrome.
Maria Kamper, president of the 22q Foundation, said this education and fundraising awareness day gives people the chance to learn more about the syndrome and how they can help.
“While not many know what 22q is, we hope that by holding a day that people can be a part of, we will reach more ears and give those with 22q a voice,” Ms Kamper said.
“Education is key.”
Emma would like to provide encouragement to those living with the syndrome: “Even though it’s hard sometimes, never give up, and always try your hardest.
“Have fun doing what you love.”
To support the foundation, please visit: https://www.facebook.com/vcfs22q11 and make a donation today.