Child with rare disease living life to the fullest
The disease can be characterised by a constant fever, as the patient is unable to sweat.
At first sight, Farrarmere resident Somai Venter (9) is nothing more than a fun-loving child, but she is actually living with a rare and incurable disease.
Following countless doctors’ visits, lengthy hospital stays and many sleepless nights with her parents, Pieter and Madelein, grappling to manage fevers peaking at 43 degrees, Somai was diagnosed with hypohidrotic ectodermal dysplasia with immune deficiency at the age of three.
“She was born prematurely, weighing only 908g,” said Madelein.
“We thought nurturing our baby girl to a healthy weight would be our only challenge, but when the fever set in, we scrambled to find answers.”
According to Madelein, the disease can be characterised by a constant fever, as the patient is unable to sweat. Therefore, the body is unable to regulate its core temperature.
In Somai’s case, her immune system is also severely compromised and her jaw is slowly disintegrating, which will result in her having to undergo a jaw replacement with tooth implants at the age of 16.
“The scariest moment in the process of establishing what was causing her to be so ill was when we were told blood tests have isolated nine of the 13 markers in diagnosing leukaemia. The tests came back negative and the process of elimination started again.
“We were then referred to the Red Cross Children’s Hospital in Cape Town, where she was diagnosed. At that stage, there were only seven other known cases in the country.
“Finding information about the disease proved to be just as rare as the disease itself, but we finally found the help and support we needed through Rare Diseases South Africa.”
Despite the many obstacles one would encounter while living with a rare disease, Somai’s only hurdle seems to be how to balance school, playing and dancing, which has become her passion.
“We believe in raising her to be as happy, independent and adventurous as possible,” said Madelein.
“She knows her body works differently to other children’s, but she is not hampered by it.
“With the onset of Covid, we did our utmost to prevent contact with the virus and have thankfully been successful.”
Given her positive attitude and caring nature, the Venter family, with Mindpro Academy in Atlasville, which Somai attends, annually participate in the Rare Diseases Day on February 28.
“My friends and I wear blue on this day because it shows everyone we care about people who have a rare disease,” said Somai.
“We also try to collect soft toys that are then given to children spending a long time in hospital. That way, they know that somewhere, someone is thinking about them and hoping they feel better.”
Madelein feels there is not enough awareness about rare diseases and information about where parents can find support.
“With the help of Rare Diseases South Africa, we were fortunate to locate a support group in the UK where we can talk about new symptoms or any challenges we’re facing, especially emotionally,” she said.
“I hope we can grow this unique community locally.”
As for Somai, she hopes to one day become a marine biologist or paediatrician.
“I am rare and proud of it because one day I am going to change the world,” said Somai.
Wear blue
Be part of Rare Disease Day on February 28 by wearing blue and showing your support for those with rare conditions.
For more information, visit www.rarediseases.co.za
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