For three days Pembelani Tuwani avoided her newborn baby girl. She couldn’t look at her or even feed her. Tuwani’s baby had a rare disease that affects the formation of the skull, head and face, known as Goldenhar syndrome. As a result, the baby was born with a clubfoot, an underdeveloped ear, a bilateral cleft lip, a cleft palate and a hole in her heart. 

This was a first-time experience for the 35-year-old mother.  She has never seen a baby born with Goldenhar syndrome and had no clue about the disease either. 

 Dr Claude Bailly, a medical geneticist who treats children with Goldenhar syndrome, tells Health-e News that it is difficult to know how many children are affected by the syndrome in South Africa because it’s so rare. Globally it has been reported that it affects one out of 3 500 to 25 000 children.

“It is a development anomaly of the craniofacial structures [the bones of the skull and face and some of the soft tissue like the tongue and soft palate], the underlying cause is largely unknown,” says Bailly. 

Tuwani, an unemployed mother of four from Elim village in Polokwane, Limpopo tells Health-e News that at first she thought the hospital was playing a prank on her. 

“There was no way I could have given birth to a child with no ear and a deformed mouth. After all, I went to the antenatal classes and I was told my pregnancy was fine.” 

But even a perfect antenatal attendance record wouldn’t have helped doctors identify the problem.  

“We do not have a diagnostic test for it in pregnancy. We make the diagnosis based on the clinical features. It can be suspected in pregnancy if there are major anomalies associated with it, but this condition can overlap with many others,” Bailly explains. 

Three days  after giving birth she went to see her baby girl who was at paediatric ICU unit at Elim hospital and she fell in love with her. This was her gift from God. She decided to name her Ortica because she was her special baby. Since then she had never taken her eyes off her. 

“It was my first time seeing a child born with so many deformities. Because of her condition I could not breastfeed her so I would express milk and give it to nurses to feed her,” she says. 

Children born with Goldenhar syndrome may have trouble eating because of a malformed facial features. Those born with the cleft palate might need surgical repair. They may also experience trouble with speech due to craniofacial (skull and  facial bones) malformation. 

At nine-months old Ortica was recently one of the 12 children who received facial reconstruction surgery as part of Smile Week at Steve Biko Academic Hospital in Pretoria. Health-e News spoke with Tuwani five days after baby Ortica’s operation. The mother  was relieved that her child had been given a new lease in life.

The operations were made possible by the Smile Foundation, a non profit organisation dedicated to providing comprehensive care for children with facial anomalies and burn injuries. The foundation has partnered with academic hospitals in Gauteng to change the lives of the children across the country. 

Facing community attitudes

Baby Ortica was born on 23 November last year. The pair was discharged on 5 December. 

“I had to use a taxi back home. I covered her with a baby blanket so people could not see her. When I got home everyone was shocked and started asking questions. At that stage I still couldn’t  breastfeed her. Instead I had to use a teaspoon to feed her milk, which would sometimes come out of her nose,” she says. 

She says her family and siblings eventually got used to her and were very supportive. 

“But the community was not so supportive. They  were saying my child was bewitched. This hurt me very much. So  I would not go anywhere with my child because people would stare and say nasty things. It became even difficult to take her to the local shops,” she says. 

Even Ortica’s siblings were constantly teased by their peers about her appearance. 

“My two older children who are 13 and 11 years old, were constantly fighting with other children who would call their sister names,” she says.

An added burden was the costs associated with ensuring Ortica got the necessary medical care. This included monthly trips to Elim hospital. 

“The travelling got worse when we were referred to Steve Biko Hospital in Pretoria in February. The monthly trips to the hospital were draining as they were long and costly. I could not believe it when I was told in May that my child is one of the kids who will be operated on during Smile week. I was both excited and scared for her,” she says. 

Tuwani says the support she got from the hospital was amazing and that took a heavy burden off her shoulders. 

Managing Goldenhar syndrome 

Bailly says the management of the syndrome depends on the complications which can include cosmetic complications (ear abnormalities, skin tags, facial asymmetry), eye  problems, cardiac defects and spinal anomalies.

“Not all people have the same complications. Some are mildly affected, others are more severe.Surgery would depend on the need and if there are complications,” Bailly says.

”The care is multidisciplinary and involves paediatricians, plastic surgeons, medical genetics and remedial therapies including speech therapy depending on the complications the patient has,” he says. 

Meanwhile Tuwani says she is excited that her Ortica will now be able to feed properly. “This will show my community that my daughter’s condition had nothing to do with witchcraft,” she says. 

The Gauteng Health department says Ortica will continue receiving surgical procedures as she grows older. – Health-e News