Condition: constant

For Dawn Bare, it seems like yesterday that she was lying beside her 6-year-old daughter in a hospital bed as the child rolled around in acute pain brought on by a kidney-stone obstruction.

"I was trying to focus on my little girl while digesting some information the doctors gave me: 'All three of your children have cystinuria,'" she recalled. "I was in shock. How could this be? I am a nurse. I know about this rare disease. I even felt a sense of guilt because this disease is hereditary and my mother suffers from it. Visions of nursing school flashed through my mind. I remembered the research I did, the papers I wrote and the doctors I questioned for my mother's sake. Unfortunately, 20 years ago, they knew even less about cystinuria."

Cystinuria, still widely unknown to the medical community and general population, is a rare disorder characterized by the buildup of cystine crystals or stones in the kidneys and bladder, said Dr. David Goldfarb, chief nephrologist at St. Vincent's Hospital in New York City. As the kidneys filter blood to create urine, an amino acid called cystine is normally absorbed back into the bloodstream. People with cystinuria, which means 'cystine in the urine,' can't reabsorb cystine and other amino acids and it accumulates in their urine.

"The cystine doesn't dissolve well - it precipitates, or crystallizes, and forms stones," Goldfarb said. "The loss of the other amino acids has no consequence.''

The disorder afflicts approximately one in 7,000 people usually between the ages of 10 and 30, he said, although some affected individuals will show symptoms in infancy. It is not life-threatening.

He added: "The gene that causes cystinuria is recessive, so people with the disorder must have inherited two abnormal genes, one from each parent. People who carry the gene but don't have the disorder have one normal and one abnormal gene. These people may excrete larger than normal amounts of cystine into the urine, but seldom enough to form stones."

Cystine stones form in the bladder, renal pelvis (area where urine collects and flows out of the kidney), or ureters, long narrow tubes that convey urine from the kidney to the bladder), Goldfarb said. The first symptom usually is intense pain caused by a spasm of the ureter where a stone becomes lodged. Blockage of the urinary tract by stones may result in urinary tract infection and kidney failure.

"This pain has been described as the worst, most unbearable pain you could ever feel," Bare, 40, of Altoona said. "Some say it has brought grown men to their knees, begging for relief in the local emergency room. Others say they've actually passed out from the horrible pain."

Her 11-year-old daughter, Allison Bare, can attest to the excruciating pain the disorder has wrought.

"I miss a lot of school because I'm home sick, and I miss out on going out with my friends," she said. "Sometimes I just go with it, but sometimes the pain is really bad and I can't. It's terrible."

Music has been her primary therapy.

"I play a lot when I'm in pain," she said. "Because when I focus on piano it sort of takes the pain away. It makes me feel better when I play."

In addition, the three Bare children (Emily and Bradley Bare are 9 and 6, respectively) are required to drink lots of water - enough fluid to produce at least 8 pints of urine each day - to keep cystine levels low. During the night, however, when a person is not drinking, less urine is produced and stone formation is more likely. The risk is reduced by drinking more fluids before bed.

Another treatment approach involves making the urine more alkaline by taking potassium bicarbonate or sodium bicarbonate (baking soda) and acetazolamide, Goldfarb noted, adding cystine dissolves more easily in alkaline urine than in acidic urine.

"The optimal treatment is hydration," he said. "But it's also helpful to alkalinize the urine. This means increasing the pH, or neutralizing acid."

In terms of diet, Goldfarb recommends consuming less salt to reduce cystine excretion and less animal protein to reduce acid production and cystine excretion.

If stones continue to form despite these measures, prescription drugs such as Thiola and d-penicillamine help dissolve cystine, he said. However, about half of all people who take the latter develop adverse effects such as fever, rash, or joint pains.

Dawn and Tom Bare take their three kids to Children's Hospital of Pittsburgh an average of three to four times a month for testing, hospitalizations and routine examinations, she said. All three have been prescribed Urocitrate, a urine alkalinizing liquid, while Allison has been prescribed Thiola.

Sandy Miller, 69, of Northern Cambria has been coping with the debilitating effects of cystinuria since she was 17. She knows full-well how unpredictable the condition can be - and the pain it inflicts.

"It comes on so fast," she said. "I'm always in and out of hospitals - you just never know when it's gonna happen. My husband and I can't even go on vacation because of this."

Miller passes an average of five to six stones, usually four days a week, she said, adding she underwent a surgical procedure called percutaneous nephrolithotomy two years ago in Pittsburgh to have a lodged jagged cystine stone the size of a quarter removed from her kidney.

"They say what's the pain on a scale of one to 10?" she said. "But you can't give a number for the pain of these stones. It's just constant pain with no relief in between. Most of the time you're throwing up, or you just pass out. I don't know how Dawn's kids are able to tolerate the pain.

"Right now, I just fear I'll have to put up with this for the rest of my life," she added. " ... There's really nothing else I can do."

Mirror Staff Writer Jimmy Mincin is at 946-7460.

Member Comments

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DaveHannah

03-05-09 11:36 AM »Report Abuse

We had a lot of trouble with bladder stones with our Hannah (a Cairn terrier), including an instances of acute retention which could have killed her, but a change of diet to a bland and natural one seem to solve the problem on a life long basis. Most vets seem to favour a change of diet. For a description of Hannah's problems and details of a successful diet please see - *******bladderstones.googlepages****/hannah If the link does not work then just copy and paste the address into the *******www address bar at the top of your screen.

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