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DEAR DR. ROACH: I am a 62-year-old female who weighs 97 pounds and is 4 feet, 10 inches tall. I’m a non-smoker, non-drinker. I’m a mother of three, take no medications and have no medical issues except acid reflux.
My brother died of Ewing sarcoma at 6. My 10-year-old sister died of dysgerminoma. Mom was diagnosed with colon cancer at 47 and died at 52. Dad died of pancreatic cancer at 81 after being in remission from prostate cancer for five years. On Mom’s side, her sister and aunt also had colon cancer.
What screenings do I need? What screenings are needed for my two daughters, ages 41 and 43? My daughters’ paternal grandmother died of breast cancer at 72. My other siblings, a 56-year-old brother and 68-year-old sister, are healthy. – G.T.
ANSWER: With so many cancers in your family, I would strongly suggest a visit with a genetic counselor. The combination of colon, pancreatic and prostate cancer suggests a genetic syndrome, such as Lynch syndrome and BRCA 1 or 2, although your history isn’t classic for either of these. There are many less-common familial syndromes that increase the risk for various cancers, and we are gradually increasing our knowledge of them.
Some of the cancers you mention are not associated with any known syndrome, such as Ewing sarcoma, a primary bone cancer, and dysgerminoma, a rare type of ovarian cancer. It’s possible that your family has just been very unfortunate. Still, I would recommend getting more knowledge about any genetic risk you may have.
With this information, you can learn the right screening strategies for yourself, as well as obtain information that could potentially be valuable to your siblings and children.
DEAR DR. ROACH: At first the doctors thought my wife had myasthenia gravis. After a series of tests, it was determined that she did not have that disease. However, the neurologists now think she has mitochondrial myopathy. Can you tell us a little more about this disease, please? – R.R.
ANSWER: Mitochondrial myopathies are a group of disorders of the mitochondria, which are responsible for the production of energy inside the cell. Almost all cells contain mitochondria, but muscle cells are loaded with them. Since they do so much of the energy consumption, muscles are most affected. These disorders used to be considered rare, but it is now thought that 1 in 10,000 people may have one of these disorders (which makes it uncommon, but not rare). Mitochondria come almost completely from the mother, and as a result, a family history of muscle problems in the maternal line suggests this diagnosis.
Mitochondrial myopathies range dramatically in severity. They are diagnosed with a combination of blood testing, EKG (since some can affect heart muscle), EMG (a test of the electrical activity of muscle), muscle biopsy and genetic tests of the mitochondria.
Unfortunately, I can’t give you any details at all about prognosis or treatment, which require a specific diagnosis. Most of these have no specific treatment, though L-carnitine, coenzyme Q10 and creatine often are tried. Your wife’s neurologists will give you more information.
Dr. Roach regrets he is unable to answer individual letters, but he will incorporate them in his column whenever possible. Readers may email questions to ToYourGoodHealth@med.cornell.edu. To view and order health pamphlets, visit www.rbmamall.com, or write to Good Health, 628 Virginia Drive, Orlando, FL 32803.
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