Wednesday, May 16, 2007
Medical Reports: Would you want to know?
More and more debilitating diseases are now detectable through genetic testing, but if something runs in your family, would you want to know if you are going to get it? We talk to patients and doctors about this emotional decision in tonight's special assignment report.
WSVN -- For Laura, family is a blessing, but it's her family genes that are a curse.
Laura: "A lot of slurred speech. There's a lot of involuntary movements. My mother choked a great deal."
For years, she watched her mother suffer from Huntington's Disease, a neurological disorder that's hereditary and brutal.
Laura: "Oh, it was so hard watching her deteriorate. Huntington's Disease robs you of your dignity."
And then it robs you of your life.
Laura: "I lost her four years ago today, so it's really hard."
But just as hard for Laura, wondering if she'll suffer the same fate.
Laura: "I think there is fear involved. Obviously, you don't want to have it."
There is a way to find out if Laura does have this dreaded disease.
A genetic test would tell her if she carries the gene that puts her at risk.
Dr. Louis Elasas, geneticist: "There's at least 5,000 disorders caused by single genes that can be tested for."
Laura wasn't sure she wanted to know but couldn't plan her future without finding out if she had the disease.
Laura: "I wouldn't want to bring a child into this world and watch them suffer with the same disease my mother did, and it's also making us think about our children watching me suffer, like I watched my mother suffer."
The test was positive. Now she wonders and waits.
Laura: "Primarily they say in your 30s is usually when it affects a person. It's hard to think. Oh, my gosh, I'm 33. When is it going to hit me?"
Jennifer Estep was also playing a waiting game with breast cancer.
Jennifer Estep: "I knew that I was probably going to get it sometime in my lifetime."
Her mother and her grandmother both had the disease.
Doctors told her knowing her risk could save her life.
Dr. Alejandra Perez of Memorial Breast Cancer Center: "The way I see it, you need to know your enemy in order to fight it."
With a husband and these two little boys to love and take care of, the stakes were high.
Jennifer Estep: "I have a lot to live for, and I didn't want something cutting it off at too young of an age."
The test showed she does have the gene mutation that puts her at high risk.
Dr. Alejandra Perez: "When you have the Braca gene mutation, you have a 60 to 70 percent chance of developing breast cancer."
So Jennifer made a radical choice: A double mastectomy.
Extreme? Yes. But it cut her chances of ever getting breast cancer by 99 percent.
Jennifer Estap: "I was able to do something about it, before it got to me."
With many patients, like in Laura's case, testing doesn't give you a cure.
But Laura says knowing you will get a debilitating disease down the road helps you live for today.
Laura: "I'm grateful, I've found the love of my life, and someone who is holding my hand through the whole thing."
If you're considering any genetic test, doctors warn you should meet with counselors to make sure you're ready to handle the results.
FOR MORE INFORMATION:
Memorial Breast Cancer Center
Dr. John T. MacDonald Foundation Center For Medical Genetics