A baby girl's battle to beat 1 in 100,000 rare disease Pfeiffer Syndrome

Just eight weeks before a young Northern Territory couple were due to give birth to their first child, they were told she would be born with a rare genetic disorder – affecting one in 100,000 people.

Ruel Mitchell and Kali Sachs had never heard of Pfeiffer Syndrome, a potentially crippling disease that is characterised by the fusion of skull bones.

Little Apryl was born in Melbourne on March 29 with type two Pfeiffer Syndrome which left her with blocked nasal passages, bulging eyes and joint issues.

Now the Palmerston family, who are relying on a single income, are desperately trying to raise funds to help give their daughter “as normal a life as possible”.

“I wouldn’t have aborted my pregnancy — that wasn’t an option,” Ms Sachs told the NT News.

“But I would have saved some money to go to Melbourne... We’re already struggling as it is — we only have one wage.”

Pfeiffer Syndrome sufferers are often given a reduced life expectancy, however the determined NT parents are adamant their child will go onto defy the odds.

In a GoFundMe page that has so far raised $13,480, it was revealed that Apryl would require several operations over the next few years with ongoing medical costs, equipment, therapy, 24 hour care and the costs of travelling to Melbourne.

“Due to her tracheostomy Apryl is required to have two machines with her constantly, one for suctioning her tracheostomy and one to monitor her breathing and heart rate whilst she is sleeping as well as a spare suctioning machine in case the other one should break down,” The GoFundMe page states.

“Apryl is also the first tracheostomy baby that Royal Darwin Hospital has seen for 9 – 10 years, so Ruel and Kali are educating quite a few of the nurses and doctors at RDH with Apryl since her return to Darwin.”