Bald Hills baby Haven Stanley battles rare Schaaf Yang Syndrome diagnosis

A Brisbane family has revealed the uncertain journey ahead after their baby girl was born prematurely and with an extremely rare syndrome that affects only 250 people worldwide.

A Brisbane mother has revealed the horrifying journey against a rare genetic syndrome her premature baby continues to battle, after an emergency birth that left the newborn purple and unable to breath. `

A Brisbane family has revealed the uncertain journey ahead after their baby girl was born prematurely and with an extremely rare syndrome that affects only 250 people worldwide.

Jamie-Lee Stanley, 26, gave birth to Haven five weeks prematurely, after an emergency C-section, on February 25.

Since her traumatic birth Haven has been unable to live without the support of a breathing tube while in the intensive care unit, with doctors encouraging the parents to let their little one go when she began to tire from her critical symptoms.

Haven was born weighing 9 pounds.

Haven was diagnosed in March with Schaaf Yang Syndrome, a rare genetic syndrome that was only discovered in 2015 by a German doctor with whom the family are in regular contact.

Miss Stanley, of Bald Hills, said Haven was her third baby and everything was going smoothly until she hit the 32-week mark of her pregnancy.

“When I found out I was pregnant my partner Trinity and I were so excited for our third girl together,” Miss Stanley said.

“All of Haven’s scans were good except we noticed her hands were closed together in fists.

“We were told it could all be normal but a slight chance her hands may be deformed,” she said.

At 35 weeks doctors discovered there was too much fluid around Haven in Miss Stanley’s womb.

“We had my fluid drained and everything came back as all good,” Miss Stanley said.

“Soon after, my waters broke and I was rushed to hospital for an emergency C-section as the umbilical cord was near her head and we couldn’t risk it coming out instead of her head.

Miss Stanley and her partner Mr Trinity Te Rore.

“She was delivered quickly and I knew something was instantly wrong,” she said.

Haven was born without a pulse and was purple.

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.

Miss Stanley said she became aware of the seriousness of her baby’s condition several days later when she herself had recovered from the birth.

“Once I was stitched back up and off strong medications I realised something wasn’t right with my baby,” Miss Stanley said.

“Something was very wrong and I noticed she was chubbier than I expected, being premature, and her fingers were contracted together and unable to open her fists.

Doctors tested Haven’s blood, performed X-rays and MRI exams before discovering her very rare diagnosis, making her the 10th sufferer of this syndrome known in Australia, and one of only 250 worldwide.

Miss Stanley said it unknown when Haven would be able to survive without a breathing tube and she and her partner are in regular confrontations with doctors.

“We know she can survive and fight, we have to have hope when they are having serious doubts,” Miss Stanley.

“I am in contact with Dr Christian Schaaf in Germany who discovered this syndrome in 2013.

“There is a 33-year-old in America, with a worse strain, who has survived and we hope Haven can do the same,” she said.

Miss Stanley said Haven was experiencing dire respiratory issues, an absent diaphragm, a gland in her brain that is not producing hormones which is varying her blood sugar levels.

The family is seeking treatment from an endocrinologist, neurologist, paediatricians and doctors at the Queensland Children’s Hospital.

Miss Stanley is hoping Haven can arrive home to her older sisters Aviya-Lee and Alaya.

“As Haven grows bigger and stronger we continue to process and learn more about her syndrome, she can hopefully fight to come home to her big sisters,” Miss Stanley said.

A family friend has created a GoFundMe page to support the family.

“It has taken a massive toll on us mentally, physically, emotionally and financially and we would also love to raise money for research and to spread awareness of the syndrome,” Miss Stanley said.

If you can donate to baby Haven’s fundraiser, please click here.