A baby girl from northern New South Wales is fighting to breathe after being diagnosed with a rare genetic disorder that has caused her tongue to grow to a dangerous size, leaving doctors considering early surgery to improve her condition.
Lulu, who was born in April, was diagnosed with Beckwith-Wiedemann Syndrome (BWS), a rare genetic condition that causes abnormal growth in different parts of the body.
In her case, the disorder has led to severe macroglossia, an enlarged tongue that has significantly affected her ability to breathe, feed and sleep.
Given the seriousness of her condition, doctors are assessing whether to bring forward tongue reduction surgery to help improve her breathing and feeding.
Medical scans have also revealed further health concerns, with MRI and ultrasound examinations showing Lulu has multiple haemangiomas, which are non-cancerous tumours, throughout her liver.
While the tumours are benign, specialists are closely monitoring them because they can interfere with liver function and cause complications such as rapid breathing, feeding difficulties, poor weight gain and jaundice.
A family friend, Chloe Baker, has launched a GoFundMe campaign to support Lulu’s family, who regularly travel from northern New South Wales to Queensland Children’s Hospital for specialist treatment.
Lulu’s father, Chris, has not been able to work since Christmas, while her mother, Daisy, has dedicated herself to caring for their daughter and managing ongoing medical appointments, hospital admissions and interstate travel.
The fundraiser aims to assist the family with medical costs, travel expenses, accommodation and everyday household bills.
Ms Baker said Daisy, Chris, and their other children Zephyr and Kai have been ‘living a reality no family should ever have to face’.
‘These regular trips and specialist appointments have now become part of everyday life for the family,’ she said.
‘Lulu now relies on oxygen delivered through nasal tubes to help her breathe safely and is expected to remain on oxygen for the foreseeable future until she is able to undergo her tongue reduction surgery.
‘It is a constant reminder of just how much this tiny little girl is fighting every single day.’
Children diagnosed with Beckwith-Wiedemann Syndrome require continuous medical monitoring because they face a higher risk of developing additional health complications.
Lulu now undergoes scans and blood tests in Brisbane every three months, while also receiving monthly thyroid checks as part of her ongoing treatment.
Doctors uncovered another serious concern during a recent hospital admission when a sleep study found her oxygen levels dropped to just 50 per cent while she was asleep.
She was subsequently diagnosed with obstructive sleep apnoea after doctors determined that her enlarged tongue was blocking her airway during sleep.
As a result, Lulu now depends on supplemental oxygen delivered through nasal tubes and is expected to remain on oxygen therapy until she is able to undergo surgery.
Her medical battle follows a difficult pregnancy for her mother, Daisy, who was admitted to hospital with serious complications when she was 24 weeks pregnant.
To remain close to specialist care and keep the family together, Daisy, Chris, Zephyr and Kai moved into Ronald McDonald House, where they stayed from Christmas until Lulu was born at 36 weeks.
During that time, Daisy spent much of her pregnancy using a wheelchair while Chris cared for her and the couple’s two young sons.
The family’s eldest son, Zephyr, also had to attend a different school while the family remained near the hospital for ongoing specialist treatment.
