A four-month-old baby girl in Australia is struggling to breathe as she battles a rare genetic disorder that has caused her tongue to grow to a dangerous size, reports Daily Mail.
Born in April, Lulu, from New South Wales, has been diagnosed with Beckwith-Wiedemann Syndrome (BWS), a rare condition that causes abnormal growth in various parts of the body. In Lulu’s case, the syndrome has resulted in severe macroglossia – an enlarged tongue so pronounced it interferes with her breathing, feeding and sleep.
Doctors are considering bringing forward tongue reduction surgery to help Lulu breathe and feed more easily, while additional complications have emerged, after MRIs and ultrasounds revealed that she has multiple haemangiomas – non-cancerous tumours – throughout her liver.
Although the tumours are not malignant, doctors are closely monitoring her as they can affect liver function and lead to complications including rapid breathing, feeding problems, poor weight gain and jaundice.
Family friend Chloe Baker has launched a GoFundMe to help Lulu’s family: the little girl has two siblings, and her parents are fully engrossed in the baby girl’s care and managing the constant stream of medical appointments, hospital stays and interstate travel to the hospital, she said. The fundraiser is seeking help with medical expenses, travel, travel accommodation and everyday household costs.
Children with Beckwith-Wiedemann Syndrome also require ongoing medical screening because of their increased risk of developing additional health issues. Lulu’s treatment regime now involves regular trips to Brisbane every three months for scans and blood tests, as well as monthly thyroid checks, while another major setback came during a recent hospital admission when a sleep study showed her oxygen levels dropped to just 50% while she slept.
Doctors diagnosed her with obstructive sleep apnoea, caused by her enlarged tongue blocking her airway.
Lulu now relies on supplemental oxygen delivered through nasal tubes and is expected to remain on oxygen therapy until she is able to undergo surgery.
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