Juan du Plessis took his first step when he was 18 months old. His mother, Kelly, says she watched him miss milestone after milestone.
“When he was six weeks old his head would rest on the back of his neck, there was no support. I thought he had a breathing problem.”
The 27-year-old Joburg mother says she took him to ear, nose and throat specialists but the tests came back negative. No one knew what he had.
“I heard, ‘he will grow out of it’ a lot.”
“At seven months he picked up a chest infection that turned into pneumonia. In hospital, about 20 doctors saw him before a paediatrician mentioned Pompe disease.”
Du Plessis says giving a name to the jelly-like nature of her baby’s body made a difference.
“Before being diagnosed and receiving treatment Juan was very lethargic, he couldn’t hold his own bottle and if left on his tummy, he might just be able to drag himself with his arms.
“People often liken Pompe patients to rag dolls – floppy – my son was like that. Now he’s like a normal little boy.
“By the end of the week, when his medication is wearing off, he feels a dip and will ask for ‘muti’,” she says.
The ground-breaking treatment Juan receives is similar to that of burn victim Pippie Kruger, whose story many are following in the news.
Professor Priya Kishnani, professor of paediatrics and medical genetics at Duke University in the US, who was in SA recently, explains that Pompe is a genetic disease that is inherited when both parents are carriers of an abnormal gene that is missing an enzyme.
The treatment replaces the missing enzyme with one made from the cell line of a Chinese hamster’s ovaries.
“They are biological agents at the frontier of modern medicine. They do not offer a cure, certainly have side-effects, but essentially are life saving.”
They are also costly, which is why Kelly recently began an organisation called Pedalling4Pompe to increase awareness, provide support and help raise funds for families who can’t afford the treatment.
Pompe, which is diagnosed through muscle biopsy and blood tests used to assess the levels of acid alpha glucosidase enzyme, can occur at any age.
“In children we see weak muscle function such as poor sucking or swallowing, inability to roll over or sit unsupported. Most seriously, they have weak respiratory and heart muscles,’’ Kishnani says.
“In adults it is gradual. People usually have problems when it comes to running, climbing stairs or rising from a chair, and may end up in a wheelchair.’’
Until recently, she says, patient care focused entirely on symptom management. Today, enzyme replacement therapy is available which is intended to replace the deficient enzyme. - The Mercury