Amanda*, 60, knew there was porphyria in her genes as both her mother and grandmother had suffered from this rare disease and she had witnessed the difficult time her mother had had with the blisters that characterise the condition. “I grew up well aware that South African variegate porphyria is a genetic disease, and that you had to avoid the sun and be very careful with medication,” she says. [For more detailed information on porphyria, see here.]
Having been tested for the condition regularly as a teenager, she'd always felt blessed when the tests came back negative, particularly because she loved sport and the outdoors. However, at 24 years of age, a night after the birth of her first child, Amanda had to be admitted to hospital with acute abdominal pains. This time the test came back positive for porphyria.
The fallout of porphyria
It was in her thirties that she experienced the worst of the disease with large and unattractive blisters on both her hands and feet. “I recall this one awfully embarrassing day while I was shopping for groceries. As I was signing for my purchase, a blister on my hand burst and the rose-coloured fluid typical of porphyria ran over the cashier’s pen and the paper. I was so embarrassed that I sat in my car and wept,” she relates.
Unfortunately these blisters can often become infected which lead to a lot of pain for Amanda. But she didn’t let that stop her doing what she loved: going to the beach with her children, swimming, playing tennis and golf, and riding horses, she says.
Taking care of yourself
Fortunately, as Amanda reached 40, she started experienced fewer and fewer attacks – although even now she is never free of the odd bump on her hands. “Although I get fewer blisters, I have to be careful not to bump or catch my hand on anything sharp as this causes the skin to break; then I just make sure it is kept clean and dry. However, the one thing that does cause me major annoyance is what I call ‘prickly heat rash’ which is when the skin on my arms itch and prickle badly. If I start itching it, it feels as though my arms are on fire, so I ensure I always carry antihistamine cream with me to soothe the rash.”
Amanda says she never takes any medication (even if prescribed by a doctor) without checking the drug’s information pamphlet – it’s critical to always check that a medication is safe for those who suffer from porphyria. “I know that drugs containing sulphur and barbiturates are to be avoided, but the list of dangerous medicines is long, and new ones are added to it regularly,” she says.
Two of Amanda’s children have inherited the disease and one of her grandchildren has just tested positive for it. “However, diagnosis of porphyria is not nearly as awful as it sounds – it can be managed and you can live your life to the full,” says Amanda.
*Name has been changed and surname withheld
For more info
For more information, including contacts for support groups, visit Porphyria South Africa, a joint University of Cape Town and University of KwaZulu/Natal information site on porphyria.