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Annie McDiarmid would rather spend her time chopping wood and riding horses, but, hounded by pain that never goes away, she contents herself with sewing and reading.
"I'm still pretty grateful that I have at least some quality of life," said the 48-year-old Datil woman.
McDiarmid had to retire on disability seven years ago from her work as a law-enforcement officer with federal agencies, mostly the Department of Defense. Her pain comes from kidneys enlarged and filled with cysts from polycystic kidney disease (PKD), a common genetic disorder that used to be known as Bright's disease.
Even though an estimated 3,000 people in New Mexico have the disease, the public doesn't know much about it.
"This is the most common genetic disease. The more people know about it, the more chance there is overall to get some funds for research," she said.
Plus, she said, people with PKD should know that a local chapter of the PKD Foundation was formed two years ago.
"When I first found I had it, it was very isolating," McDiarmid said. "I didn't know another soul with it-- except my mother, and she wouldn't talk about it."
PKD is autosomal-dominant-- that means you can get the disease with one copy of the gene from one parent, said Dr. Angela Wandinger-Ness, associate professor of pathology at the University of New Mexico.
There is no cure. People can take dietary steps, such as cutting down on salt, to help control the high blood pressure that often comes with the disease. Ultimately, PKD causes kidney failure, which must be treated with dialysis or a transplant, she said.
It's not clear why the cysts form. The disease can be caused by mutations in two different genes, each of which makes a protein. The two proteins bind together, according to Wandinger-Ness.
"Exactly what those proteins are doing-- we're still trying to figure that out," she said. They may play a role in moving calcium into the cell, or they may be involved in kidney development.
They also might be involved in how tightly cells in the kidney hold together, a possibility Wandinger-Ness is investigating in her research at the Cancer Research and Treatment Center. She compared the cells lining the nephrons-- the channels where fluid moves through the kidneys-- to the lining of a hose. You don't want leaks.
When researchers figure out what's going on at the molecular and cellular level, they might know why kidneys form cysts. Those with the disease also may form cysts in their liver or develop aneurysms, both conditions that involve cells similar to those implicated in the kidneys, she said.
The disease can progress at different rates in different people. Joan Kissinger, 57, still works as a nurse at Lovelace Medical Center in Albuquerque after being diagnosed 16 years ago. Her disease was caught, she said, with regular testing during a pregnancy.
Often, it is diagnosed with ultrasound images that show the enlarged kidneys.
Kissinger said she experiences periodic pain, similar to a gall bladder attack, and takes medication to reduce her blood pressure. Her kidneys, though, still are functioning normally, she said.
"I have three children now to worry about," she said, giving their ages as 15, 23 and 25. They might not know if they have PKD, though, until their 30s or 40s, when the kidneys might develop enough cysts to show up on an ultrasound or cause symptoms.
"I remind them to stay healthy and watch their blood pressures," she said.
For Deborah Weaver Parker, 49, the diagnosis of PKD was the spark that caused her to follow her dream of opening a business. "The immediate coming to terms with a life-threatening condition caused me to be very reflective on what to do with my life," the Albuquerque woman said.
She had taught English and reading at Albuquerque Technical Vocational Institute to students who didn't get high enough scores for college entry. She also was involved in planning and quality assessments, skills that she translated in her business, Dynamic Growth Strategies Inc., to help nonprofit groups.
Weaver Parker said she found out she had PKD eight years ago after her father, on dialysis at age 67, urged her to be tested. She has high blood pressure, which now is under control, and very occasional flank pain, she said.
"The vision I have for the (local PKD Foundation) chapter is that some day, when somebody gets diagnosed, wouldn't it be great if they had a group of people to call, so they can feel it's not a death sentence right away," said Weaver Parker, a board member. "We could do some real good in terms of supporting people."
Copyright 2003 Albuquerque Journal