'God will send a cure': Toddler lives on borrowed time after rare genetic disease diagnosis

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It took about a year before Luca was diagnosed with Niemann-Pick Disease. Photo: Supplied/Gogetfunding fundraiser
It took about a year before Luca was diagnosed with Niemann-Pick Disease. Photo: Supplied/Gogetfunding fundraiser

Baby Luca's parents are in a race against time, as they struggle to raise the funds needed to pay for the expensive treatment that their son needs to stay alive.

When he was just seven months old, Luca's parents noticed that he was not reaching the development milestones as he should. Upon visiting a paediatrician, the doctors noticed that Luca had an enlarged liver.

"It took about a year to find his diagnosis," Luca's mom, Marisa Barnard, who lives in Kuruman in the Northern Cape, told News24 in an interview.

Luca was diagnosed with a very rare, and fatal, genetic disease called Acid Sphingomyelinase Deficiency (ASMD), also referred to as Niemann-Pick Disease.

He was diagnosed with Type A/B, which is characterised by an enlarged liver, loss of muscle tone, failure to thrive and a possibility of neurodegeneration – a disease where cells of the central nervous system stop working.

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Luca and his dad at home. Photo:Marisa Grobler.

His distressed mom says that there is no medicine for this genetic disorder in South Africa, but experimental medicine is available overseas.

"Unfortunately, the Olipudase Alfa medication from Sanofi, used in the enzyme replacement therapy that Luca needs, is only available in the USA," says Barnard, adding "We are trying our best to import this treatment to South Africa."

R2.2 million per year 

The treatment is costly. The medication on its own is estimated at R184 000 per month, or R2.2 million per year, shared Barnard.

Currently, Luca endures infusions in an intensive care unit (ICU) every second week, and these will most probably continue for the rest of his life, or until a better treatment is found.

His mom says that they have started a Gogetfunding fundraiser to try and help Luca.

Barnard and her husband Christiaan, who works at a local mine, are also opening an open-air restaurant in Kuruman soon, with the aim to create a permanent income to raise money and support her other three children - Lisa, 8, Daniel, 6, and Mille, who is nine years old.

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Luca and his siblings at home. Photo: Marisa Grobler.

Luca will be turning three in March 2022 and his mom says that he is doing well despite the diagnosis.

"He is very small and only weighs 6kg and he gets sick very easily. He does not do very well in social situations so we do not take him out of the house much as he does not do well out of his routine," Barnard says.

"God gives hope and strength greater than you can imagine, we have a brilliant support structure with friends and family. We will stay on our knees and keep on believing that God will send a cure," she told Parent24.


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