Brave Bald Hills Family Determined to Help Baby Haven Overcome Rare Schaaf Yang Syndrome

Schaaf Yang Syndrome
Photo credit: Pixabay/Pexels

A Bald Hills family is set on their mission to help their third daughter Haven overcome a rare genetic disorder called Schaaf Yang Syndrome and its impacts on her development.


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Jamie-Lee Stanley, a resident of Bald Hills, explained that she became aware of the severity of Haven’s condition several days after her birth.

When she was pregnant at 35 weeks, doctors discovered there was too much fluid around Haven in Ms Stanley’s womb. After her waters broke, she was rushed to the hospital for an emergency C-section as the umbilical cord was near Haven’s head.

Haven (Photo credit: Sophie Johnson/GoFundMe)

Haven was born without a pulse and was purple on February 25, five weeks prematurely. Nurses worked tirelessly to resuscitate her and were left with no choice but to place Haven on a breathing tube in the neonatal intensive care unit.

According to Ms Stanley, Haven is facing severe respiratory problems, lacks a diaphragm, and has a gland in her brain that is not producing hormones properly, leading to fluctuations in her blood sugar levels.

She’s currently receiving care from various medical specialists, including an endocrinologist, neurologist, pediatricians, and physicians at the Queensland Children’s Hospital.

What is Schaaf Yang Syndrome?

Dr Christian Schaaf (Photo credit: ashg.org)

Schaaf-Yang syndrome (SYS) is a rare genetic disorder affecting developmental aspects such as intellectual ability, physical growth, and behaviour. Statistics say only 250 people worldwide are currently diagnosed with Schaaf Yang Syndrome.

Ms Stanley revealed that she is in contact with Dr Christian Schaaf in Germany, the researcher who discovered this syndrome in 2013. 

She noted that there is a 33-year-old individual in Australia with a more severe strain of the disorder who has survived, giving them hope that Haven can also overcome this challenge.

Fundraiser for Haven

Sophie Johnson, a family friend, organised a fundraising campaign to help the family. Ms Johnson shared that Jamie-Lee and Trinity have not asked for this help, but as a friend and witness to their journey, she has seen the toll these long months have taken.

“The changes they have made to be close to the Hospital, juggling jobs, temporarily moving their little family in order to be by Havens side as much as possible whilst learning about their little girls condition and care moving forward, I just know this little family is very deserving of support and love.” wrote Ms Johnson.


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To help the family as they navigate Haven’s rare diagnosis and the associated challenges, see the fundraising campaign via GoFundMe.

Published 24-May-2024