Toti parents plea for help with baby’s BWS diagnosis

"Our greatest fear is that he does not receive the cancer screening and eventually it becomes too late to treat."

February 23, 2017

Holly Konig 2 minutes read

11-month-old Toti baby, Nathan Naude was born with Beckwith Wiedemann syndrome (BWS), a paediatric overgrowth disorder which involves a predisposition to tumour development.

ELEVEN-month-old Toti baby, Nathan Naude was born with Beckwith Wiedemann syndrome (BWS), a paediatric overgrowth disorder which involves a predisposition to tumour development.

Nathan’s parents, Schalk and Simone Naude, aim to raise not only funds towards Nathan’s medical needs but awareness about the rare disease South Africa knows so little about.

“South Africa is in the dark when it comes to BWS. Many children could have been spared a lot of pain and suffering if it was studied better in this country. Not to mention what parents and loved ones have to endure due to not identifying BWS,” said Schalk Naude. BWS is a rare disease, with statistics showing one in every 13,700 children being diagnosed. The overgrowth affects the external as well as the internal features. The most recognisable traits include an enlarged tongue, abdominal wall defect and low blood sugar. Areas of concern include enlargement of some organs.

“Our little Nathan has an enlarged spleen, liver, heart and tongue and was recently diagnosed with a salivary gland tumour. Several of the lymph nodes around his neck and head are prominent and have increased in size,” said Schalk.

Cancer is the main risk that children with BWS are prone to. This means that cancer screening such as MRI scans, sonars, X-rays and alpha-fetoprotein (AFP) blood tests need to be done frequently to detect and monitor cancer growth in order to find the disease in time to prevent it from spreading and in turn becoming terminal. Baby Nathan suffers from hip dyspepsia as his soft bones haven’t hardened enough yet. This delays milestone movements such as sitting, standing and walking. Doctors are trying to conclude what relation this has to the BWS or if it is a separate and second disability altogether. Nathan has also been diagnosed with ‘brain volume loss’ as per his last MRI scan where it was also noted that he has excess fluid on the brain. Genetic analysis is the only formalised form of diagnosis that will display all relevant defects in the genetic structures to fully determine all possible BWS defects and medical conditions that Nathan has. This will ensure that he can be provided with the best care.

“Unfortunately, this procedure is not available in South Africa and we now need to get Nathan to the USA or Europe to have the analysis conducted. Just the laboratory fees for conducting the analysis are currently about R8,477,”said Schalk.

With only one parent working, as the other lost their job due to being off work so frequently to care for Nathan, it’s increasingly difficult to meet Nathan’s medical needs.

“This loss of income is placing restrictions on how much we can do for our son,” explained Schalk.

“Our greatest fear is that he does not receive the cancer screening and eventually it becomes too late to treat.”

Any assistance with regards to the Naudes’ situation is appreciated, be it financial contributions, creating awareness, providing others with the ability to recognise BWS in their own little ones and ultimately sparing a life.

Click here to find out more about Baby Nathan and BWS and email bwsdevelopment.funding@gmail.com or call father, Schalk Naude on 078-141-5525

Bank details for any EFT donations are as follows:

FNB