“I had been diagnosed as a carrier and was monitored by the hospital but I didn’t take it very seriously. Then suddenly in March 2004, I was told that I had kidney failure.” Read on to find out Priti’s story.
“Even though my mother and four siblings had been diagnosed with Fabry disease, I had no symptoms, so I thought I had escaped,” says Priti*, 52. “I had been diagnosed as a carrier and was monitored by the hospital but I didn’t take it very seriously. Then suddenly in March 2004, I was told that I had kidney failure.
“It was a huge shock. I only had 10% kidney function and had to start dialysis. I knew what that meant because my older sister, who had already been diagnosed with Fabry disease, had been through renal failure already.”
Fabry disease is a lysosomal storage disease, a rare genetic condition with no cure caused by the lack of an enzyme that breaks down waste products in the cells. The build-up of waste products causes progressive cell damage affecting many parts of the body. Symptoms can include burning sensations or pain in the hands and feet, headaches, vertigo, tinnitus, dark red spots on the body, fever, sweating too little or too much, intolerance to heat, abdominal pain, vomiting and diarrhoea and impaired hearing.
Fabry disease is not contagious. It is a hereditary condition that can be genetically inherited from parents to children.
Over time, some patients develop more serious symptoms that affect the heart, brain and kidneys. Waste products accumulating in the kidney cells and the walls of blood vessels supplying the kidneys can lead to impaired kidney function. Priti started continuous ambulatory peritoneal dialysis. “The equipment was portable so I was able to travel and did not need to go to hospital for dialysis, but the process means you are prone to infections and five years later infections meant I had to swap to haemodialysis, which I have now had for seven years.
“I now go to the hospital for haemodialysis three days a week and I’m tired afterwards so with that and looking after the house and one of my sons who also has Fabry and lives at home, I can no longer work – I trained as a dispensing pharmacist. Sometimes I have pain in my hands and feet which painkillers do not help much, and I have occasional gastro-intestinal symptoms. I can feel weak and I’m slow doing household chores.”
More than 80% of Fabry disease patients suffer from some degree of kidney impairment, and this typically becomes apparent in their mid-30s, and can occur as early as childhood.
Priti hopes for a kidney transplant and at one point had a potential donor, but she has high levels of antibodies so her body would be likely to reject anything other than an extremely close match.
“Now my daughter – who does not have Fabry and is a perfect match – has offered to be a donor but the necessary tests have revealed that she has a so-far undiagnosed kidney problem of her own. I am on an emotional roller-coaster. She is my best hope of a transplant but I just hope she has not got anything seriously wrong.”
Meanwhile, says Priti: “I feel guilty that I have passed on this disease to my children but there is some comfort in speaking to other Fabry patients, and I live in hope.”