I Hate Dialysis Message Board
Dialysis Discussion => Dialysis: News Articles => Topic started by: okarol on December 21, 2007, 12:08:52 PM
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Spreading the word
Genetic kidney disease sufferer is on a mission to help find a cure
ANNE KELLY
RECORD STAFF
Friday, December 21, 2007
It is a disease which can swell the kidneys from the size of a human fist to the size of a football, weighing as much as 38 pounds each. It riddles them with painful, fluid filled cysts, which grow as big as baseballs, crowding out normal kidney tissue.
The culprit is polycystic kidney disease, one of the most common of all life-threatening genetic diseases. By age 60, half of those with the dominant form of the disease experience kidney failure and require a kidney transplant or dialysis to keep them alive.
Those with the disease also face a higher risk of heart problems, stroke, brain aneurysms and cysts in other areas of the body, such as the liver.
There are more than 63,000 people in Canada and 12.5 million people worldwide with the disease. There is no treatment and no cure, although three drugs are being tested which could slow the development of cysts.
Nina Young, 26, of Kitchener, learned she had the disease when she was just 13. It has cut a wide swath through her family.
Her grandfather died from its complications as he was preparing to begin dialysis. Her mother Laura, who lived in Kitchener, succumbed in the summer of 2006 at age 45.
Of her mother's siblings, six have the disease and one does not. Another died in infancy of unknown causes.
Two have died as adults and two have had successful kidney transplants. Young's brother and several cousins also have the disease.
After eight troubled years on dialysis, Young's mother had climbed near the top of the transplant waiting list before her death.
Although Young's own kidneys and heart are currently fine, she is already having problems with her blood pressure and has a number of cysts on her kidneys and liver.
A single mother of an eight-year-old, she is unable to work outside the home and provides home day care.
"It's not an easy feeling knowing that I may have 10 years left until I'm on dialysis," Young says in a recent interview at her home.
But she is trying to stay positive.
Young is on a mission to educate people about polycystic kidney disease, hoping that awareness will prompt more research into treatments and possibly a cure. She is involved with the Polycystic Research Society of Canada as a volunteer representative for Waterloo Region, which does not have a chapter. The society has support groups and holds an annual walk to aid in funding research.
Young is moving to her native Newfoundland next summer to be closer to her family and plans to start a chapter there. She has a blog which details her health struggles. (www.pkdfighter-ninasblog.blogspot.com.)
In one poignant entry she writes: "watching my family, and especially my mom, fight so hard to just live is what has given me the courage to stand up and make a difference.
"I will continue fighting for them, for myself and for every other person out there in the world who is affected by this disease. I will not give up until there is a cure."
Young's determination is a departure from the depression she experienced while growing up.
Every time the phone rang, it seemed another family member was seriously ill. Depression often accompanies the disease.
"It's a very emotional thing.," she says. "There was a time, I couldn't talk about it at all. I'd just break down and cry."
She understands now that constant worry is counter-productive.
"Stress is terrible on your body, because it causes hypertension (high blood pressure). Cysts don't like that. It aggravates them and they start growing even more."
On the advice of a renal dietitian, she eats a low-protein, vegetarian, soy-based diet aimed at slowing the formation of cysts.
Lorrie Rome, national director of scientific programs for the Missouri-based PKD Foundation, says one of the drugs being tested is particularly promising.
"Probably within five to six years, if the clinical trials hold up, it should be on the market," Rome predicts.
"PKD research is a very exciting, dynamic and potentially therapeutically promising field," said Rome.
Young's eagerness to promote awareness and research is partly fuelled by her desire to ensure her daughter, Laura, has a better future, should she develop the disease.
When Young learned she was pregnant at age 18, "it was the greatest moment of my life. Now I have somebody here to go on for," she recalled thinking.
But Young feels the loss of her mother deeply. She cared for her during her horrible ordeal.
Her kidneys needed to be removed when they ballooned to 11 pounds and 13 pounds each.
As cysts grow, they can rupture and bleed, causing infection.
She required several surgeries to find a site that could withstand the catheter needed for dialysis.
Her final option was peritoneal dialysis, with a catheter running into her belly. But gangrene set in at the opening created for the catheter. The wound would not heal and she died not long afterward.
Young is encouraged by the research underway and is determined to stay as well as possible until there is a breakthrough.
The disease can be diagnosed through tests such as ultrasound, CT (computed tomography) scan and MRI (magnetic resonance imaging) scan.
Genetic testing is also available, but there are pros and cons with that, notes Rome.
In the United States, some people have been denied medical and life insurance based on their genetic testing results.
Young has not been able to get life insurance because of her illness. But, despite the many challenges that come with the disease, she tries to be upbeat.
"It's something you just have to learn to live with and do the best you can," she says.
akelly@therecord.com
WHAT IS IT?
Polycystic kidney disease (PKD), the most common of all life-threatening genetic diseases, affects more people than Down syndrome, cystic fibrosis, muscular dystrophy, hemophilia, sickle cell anemia and Huntingdon's disease combined.
It comes in two hereditary forms. They are:
1. Autosomal dominant, which affects one in 150 people worldwide. Parents with the dominant form of the disease have a 50 per cent chance of passing it on to each of their children.
2. Autosomal recessive, which affects one in 20,000 babies and often leads to death in their first year of life. Parents who carry the gene for the recessive form have a 25 per cent chance of passing the disease to each of their children.
The dominant form has two types of genes, known as PKD 1 and PKD2. Eighty-five per cent with the dominant form have the PKD 1 gene, which leads to more aggressive disease. The disease is also more aggressive in men and those who develop high blood pressure in their early 20s.
SOURCE: PKD FOUNDATION
SYMPTOMS
high blood pressure occurs in 50 per cent of patients
constant or intermittent pain in the back and the side of the stomach
blood in the urine
kidney stones
frequent urinary tract infections
heart problems
brain aneurysms
stroke
ON THE WEB
www.pdkcure.org
www.geocities.com/walkforpkdtoronto
www.mayoclinic.com
http://news.therecord.com/Life/article/285590
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Thanks for posting, Karol. We suspect Mike's dad had PKD and died from other causes before he was diagnosed with the PKD. Two of Mike's three children have it. They were both diagnosed in their early thirties. None of the grandchildren have been screened but we know they are all at risk for this horrid disease. We pray that one of the three drugs currently in trials will be effective for them by delaying the onset and/or progression Knowing they could all have it, is something we all live with. I feel great sadness and empathy for the spouses and in-laws who worry for thier children and grandchildren because they married into this wonderful family only to find they are cursed with this disease.
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thanks for posting that karol , as black said it is a horrid disease which me and both my boys have.
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My dad died at 28 years old due to a cerebral hemorrhage - a result of high blood pressure from PKD. My 2 sister and my brother have it, too. We never knew it was hereditary until we were in our 30's.
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My dad died at 28 years old due to a cerebral hemorrhage - a result of high blood pressure from PKD. My 2 sister and my brother have it, too. We never knew it was hereditary until we were in our 30's.
You know well what I meant. I'm so sorry. I still find it shocking that autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening genetic diseases, and affects more people than Down syndrome, cystic fibrosis, muscular dystrophy and sickle cell anemia combined, yet most people never heard of it. When you add in those with ARPKD the number is much higher. Many millions of families have been impacted by this, but most of the medical community appear to be ignorant. Someday there will be ways to prevent the progression, and cheap routine testing will identify those at risk before any damage can be done.
The chances, that your daughter would dodge the PKD gene and still have kidney failure, have to be in the billions. Amazing!