When you notice the silent killer, it might be too late. It sneaks up on you, without you even knowing, and suddenly takes hold of your health. What you might believe to be an ordinary recurring infection, may be something much more threatening and serious.
Primary immunodeficiency disease (PID) comprises a heterogeneous group of rare genetic disorders that affect the development and function of innate and adaptive immunity.
According to Kaarina Meintjes, mother of 18-year-old Simon who suffers from this disorder, it is not child’s play.
At the age of 14, Simon was diagnosed with one of roughly 300 forms of this deadly disease. He was also among the first in South Africa to be diagnosed with this specific form of PID, known as Hyper IgE Syndrome.
“Even though he was born with the disease, he was only diagnosed later in his life. From a young age he was very sickly. He had terrible eczema and reoccurring skin infections. As doctors were unable to correctly diagnose him, we always assumed he had severe eczema and treated him accordingly,” Kaarina explained.
She went on to say that after Simon had been diagnosed, she did a great deal of research about the disease. She found that PID can either be genetically transferred or occur in a child without any family history of the disease – as in Simon’s case.
His condition worsened to the point where he had to be home-schooled from Grade 9.
“He was often in hospital for treatment. It really played havoc with our entire family as it’s an expensive disease that requires a lot of attention. It really affects every member of the family,” Kaarina said.
Luckily she discovered a support structure known as Pinsa (Primary immune deficiency network of South Africa) just in time.
“When your or a family member is diagnosed with PID you can register with this support organisation. It’s a network of professionals and other people with a PID. They share their journeys, tips, information and advice on a regular basis. It doesn’t make you feel so alone because more people suffer from this disease than one might think,” she said.
“There isn’t necessarily enough knowledge about the incurable PID, and that’s why this network was created. They can put you in contact with the relevant people to help you.”
She went on to explain that for every province, there is a support group that meets once or twice a year.
Kaarina urged all parents to be vigilant regarding their children’s health. The sooner children are diagnosed, the sooner they can receive the required treatment. It also makes them less prone to cancer that can occur because of their weakened immune systems.
“Not only does his treatment amount to R50 000 each month, there are many hidden costs such as therapy, ointment and home schooling, among other things. Parents should really be aware because an early diagnosis makes a huge difference,” Kaarina said.
“Since he started with treatment he genuinely started getting better. He is absolutely perfect when he receives his treatment every week. He doesn’t even get infections any more.”
Because PID and HIV symptoms are very much alike, one should first be tested for HIV.
Some of the characteristics of any form of PID include the following:
• Severe infections of any sort (such as of the lungs, skin or bladder)
• Patients might not appear that sick
• Persistent and unusual infections
• No treatment seems to effective
For more information feel free to visit Pinsa at www.pinsa.org.za.
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