A fighter from the beginning, Haven was born five weeks prematurely with severe breathing difficulties and required immediate intubation.
Her symptoms of dystonia and respiratory issues left her parents and medical professionals searching for answers.
At one month old, Haven’s family finally had a name for her condition – Schaaf-Yang Syndrome.
Schaaf-Yang Syndrome is a very rare neurodevelopmental disorder, with research estimating the syndrome affects just 250 people worldwide.
Haven’s mum, Jamie-Lee, said genetic testing helped determine the best possible care for Haven.
“We received those tests back and they confirmed that Haven had Schaaf-Yang syndrome,” Jamie-Lee said.
“We got into contact with Dr Christian Schaaf in Germany, who discovered the syndrome, and worked with the team at Queensland Children’s Hospital to make a plan for Haven,” she said.
When Haven was around six months old, she underwent a tracheostomy surgery to help air and oxygen reach her lungs, by creating an opening into her trachea (windpipe) from outside her neck.
Initially Haven required ventilation 24/7, but as she grew stronger, her breathing abilities improved.
“She can now breathe on her own when she is awake and only needs the ventilation support when she is sleeping,” Jamie-Lee said.
After 304 days in the Queensland Children’s Hospital Paediatric Intensive Care Unit, Haven was finally able to return to her home in Warner.
Haven’s parents underwent specialist training to ensure they’re equipped to care for Haven’s complex needs outside of the hospital.
The family is also supported by the Home Ventilation Program, which is an ongoing service for children at home who are well and ventilator-dependant.
Despite her ongoing challenges, Haven’s family was excited to finally settle into life at home and spend time together as a family.
“We were so excited to wake up in the morning and have Haven in her room instead of in hospital,” Jamie-Lee said.
“Her two sisters, Aviya and Alaya, couldn’t wait to have her home.”
Haven’s parents are strong advocates for Haven and are passionate about raising awareness for Schaaf-Yang Syndrome.
“My advice to parents would be to find your community, because that’s where you’ll find your support from when dealing with a rare diagnosis.”