Little Zack Amos, 2, of Lotus River was born with skin lesions and growths on his eyelids leaving him blinded.
He was also diagnosed with Hydrocephalus, a condition where excess fluid in the brain leads to the head growing abnormally large.
His parents, Andrea Amos, 21, and Jeninio Hendricks, 21, say it was difficult to go outside and expose their baby to the curious and sometimes horrified stares of strangers.
But after seeing the movie Wonder - similarly about a little boy with a rare disease that left his face disfigured, but who overcomes his fears with the help of his family and friends - they have found the courage to show Zack to the world.
Andrea says their journey began in September 2017 when little Zack arrived two months prematurely at Retreat Day hospital.
He was rushed to Groote Schuur Hospital where doctors thought he was born without eyes.
“A doctor came to see me in the intensive care ward and said Zack had no eyes and that he was blind,” says Andrea.
But at Red Cross Children’s Hospital, doctors had a different diagnosis.
Spokesman Dwayne Evans says explains: “We have made a presumptive clinical diagnosis in Zack as this has not been confirmed with molecular genetic testing.
“The presumptive diagnosis is Oculo-ectodermal syndrome, also known as Toriello Lacassie Droste Syndrome.
“It is a very rare condition that has variable manifestations of eye and skin abnormalities, growth disturbances and developmental challenges.”
He says the illness is caused by a mutated gene but is not hereditary.
Andrea says in 2018, Zack underwent two operations, one to place a ventriculoperitoneal (VP) shunt inside his head to help relieve pressure on the brain and another to remove excess fat on the eye.
The young mom says more such operations are expected to take place in the future, which will hopefully restore her son’s sight.
“The doctor explained this happened during the first or second week of my pregnancy and a gene did not form properly, and there is nothing that I could have done,” Andrea explains.
“They said he is one of 21 cases in the world and the closest one is in Malawi.”
Andrea, who lives with her cousin and looks after Zack 24/7, says further: “It was hard at first.
“People used to stare when we went to the shops but it became easier and you get used to it.”
Jeninio calls his son a little miracle.
“There was a lot of stress, but I shared pictures of him on Facebook because he is our baby.
“In that movie, that child had to undergo a lot of operations and had no face, Zack is our little Wonder.”
Little Zack is able to understand his parents but cannot walk yet.
“Due to the fact that he cannot see yet, he is afraid to walk and will only move where the area is soft,” adds Andrea.
Meanwhile the couple is struggling financially after Jeninio’s contract at a plastics company recently came to an end.
His dream is to work in Law Enforcement, so he can help other people.
If you would like to assist the family in any way, call them on 061 6648 656 or 067 896 3752.