Cape Town boy, 3, with rare eye disease, expected to have surgery
- 3-year-old Zack Amos suffers from Toriello Lacassie Droste Syndrome.
- Dr. Raziq Sulaiman-Baradien says these rare diseases are the strong point of a medical geneticist.
- Zack will have a final surgery in August to remove the skin from his eyelids.
Zack Amos, three, of Grassy Park, Cape Town, suffers from hydrocephalus and a rare eye disease known as Toriello Lacassie Droste syndrome.
Even though the toddler suffers from such a rare syndrome, he remains a cheerful, happy and “hopeful” little boy, according to his parents, Andrea Amos and Jeninio Hendricks.
Dr Raziq Sulaiman-Baradien, registrar of medical genetics at War Memorial Red Cross Children’s Hospital and Groote Schuur, who handles complex genetic cases, said these rare diseases are the strength of the medical geneticist.
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“The presumptive diagnosis is oculo-ectodermal syndrome, also known as Toriello Lacassie Droste syndrome. It is a very rare disease with varying manifestations of eye and skin abnormalities, growth disturbances and problems. It is caused by somatic mosaic mutations in the KRAS gene, “he said.
Speaking to News24, Andrea Amos said that throughout her nine-month pregnancy in 2017, no doctor or gynecologist told her she could carry a “very special baby boy.”
It wasn’t until she gave birth on September 13 that she realized something was wrong, when she saw all the staff standing by her side.
âI gave birth normally to Zack. The nurse put him on my chest, but I still couldn’t see his face as I was still overwhelmed with the birthing process. They took him very quickly in an incubator, to watch it, “she said.
The 23-year-old mother added that she was transferred from Retreat Day Hospital to Groote Schuur the same day for observation and testing – on her and on Zack.
She claimed that she was not able to fully see her child until later that evening.
Before she could see Zack, a doctor sat her down and explained the child’s condition to her.
I told the doctor it didn’t make sense, either my child is blind or has no eyes.
She rushed into the room where Zack was – and then she realized she had seen him for the very first time … “he had no eyes”.
“I was completely in shock! I didn’t even know how it was possible because I was told my pregnancy was going well.”
Amos said Zack had two major eye surgeries at the Red Cross Children’s Hospital and remained under their supervision.
Hospital spokesperson Dwayne Evans said Zack had growths on his eyelids, skin lesions (skin aplasia and pigment changes) and hydrocephalus.
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âWe made a presumptive clinical diagnosis on Zack because it was not confirmed by molecular genetic testing,â Evans added.
According to the hospital, this mutation cannot be inherited and is only present in certain cells of the body, which explains the variation in clinical features in those affected.
Evans added that the risk of severe Covid-19 for children and adults with rare diseases is not well documented. He called on parents, caregivers and guardians to take the necessary precautions to ensure the safety of their little ones.
According to Amos, Zack is a “daddy’s boy” and lights up when he hears his father’s voice.
“The clinical features are variable, as is the prognosis. It would be difficult to say how Zack would behave in the future,” Sulaiman-Baradien said.
Amos said doctors told him that only one in 21 people worldwide have contacted this type of illness.
She said Zack needed a lot of attention as his head was slightly larger than normal, but he was very aware of his surroundings.
When Zack was born he couldn’t cry, and it built up a lot of fluid in his brain.
âHe currently has a drainage shunt in his head that drains water from his brain. The shunt goes from his head to his neck and into his stomach,â she added.
âEven if he is not able to see, he can distinguish daylight, and when there is a shadow near him,â she said.
According to Amos, the hardest part of dealing with Zack is when they take him to the mall because people stop and watch.
âAt first when his dad and I took him to the mall, I had to cover his face with a blanket because people would stop and look at him and make rude comments,â she said.
Zack lights up when he hears his father’s voice, they do so many things together.
According to Amos, “Zack is a normal child” in his eyes.
He currently weighs 10.9 kg and eats whatever she gives him.
âLike any child, he loves to eat sweets, but I don’t feed him too much sugar because he has a very weak immune system,â she said.
Zack will have a final eye operation on August 5 to check if the skin on his eyeballs can be removed, and it may be possible that he can see.
âAt the moment, we hope this is positive news because I just want the best for my child, so that he can start living normal things for children,â she said.
She said the process has been very long, but the help from her family has been overwhelming.
“We hope for a good result.”
Amos said Zack is a “daddy’s boy” – and lights up when he hears his father’s voice.
âI don’t exist anymore when it comes to spending time with Zack, it’s literally the boys against me,â Amos said.
“My child is a blessing, I adore him and look forward to spending many years living together.”