Genetic Cystic Fibrosis and Pregnancy
Fibrosis
How can you know your risk of developing genetic cystic fibrosis? The first thing you need to realize is that cystic fibrosis (CF) is a genetic disease. Each human being has 23 pairs of chromosomes in each cell of the body. It is a mutation on the seventh pair that causes CF. This gene is very complex, and well over 1,000 different kinds mutations on this gene can manifest as CF.
As a genetic disorder, it is passed along from parents to child. In the case of CF, two CF genes must be inherited, one from each parent. This makes CF a recessive disorder, because two genes are needed for the condition to manifest. While both of these parents, with their sole CF gene, would be healthy, they are still "carriers" of the condition.
When two carriers have children, the risk that their CF genes will combine and that their offspring will have CF is one in four, or 25%. In addition, CF is an autosomal disorder, meaning that the CF gene can affect males and females equally.
Because of its recessive nature, the birth of a child suffering CF is frequently a complete surprise for a couple, since there are often no prior history of CF in the family.
This makes sense, because it is likely the gene has been passed on singly, and because of their good health, neither parent knew that he or she was a carrier.
One of the ways to evaluate your risk for having a CF mutation, even if you have no family history of the disease, Caucasian and Ashkenazi Jewish groups are at the highest risk, with a 1 in 3300 chance of having a child with CF. Hispanics follow, at 1 in 8000-9000, and African-Americans, at 1 in 15,3000. At lowest risk are Asian heritages, at 1 in 32,100.
If you are concerned that you might be a carrier of CF, a simple test for the gene can be performed using either a small blood sample or a cheek swab. Of the over 1,000 mutations, laboratories test for the most common - from 30 to 100. This means that the detection rate can vary.
Ashkenazi Jews get the most reliable results, at 97%. Caucasians have a 90% detection rate, and African-Americans 75%. The detection rate for Hispanics is 57%. The lowest detection rate is for Asians, at 30%. These variances occur because the mutations that cause CF vary around the world, and are more common in certain areas than others.
This means that, although CF carrier testing yields positive results, it is still possible to have a CF mutation. There are still more mutations that cause genetic cystic fibrosis that have not been discovered yet. For this reason, testing is recommended for anyone who has a family member who has manifested the disease, or whose partner either suffers from CF, has a family member with the disease, or who is a known carrier.
Casey Flaherty - Nutrition and Cystic Fibrosis
Episode #0085 Casey Flaherty Nutrition and CF Casey Flaherty, 25 years old with cystic fibrosis, living in New York City and running the ING New York City Marathon. Casey is working, attending nursing school, taking yoga classes and living, breathing, and succeeding with CF. -Casey eats a high calorie well rounded diet consisting of fruits, nuts, vegetables, dairy for calcium, and lots of carbohydrates & protein. -Besides being adherent to my treatments I believe in good nutrition, exercise, and rest. I try to get 8 hours of sleep every night states Casey. -Casey loves junk foods like baked goods and pizza but tries to stay away from foods high in corn syrup and processed goodies. -I am always eating throughout the day so I make sure I pack my bag with fruit and trail mix states Casey. -Caseys little secret on nutrition and CF is that she eats a lot of peanut butter and cheese as a snack because if its nutritional value. -CF is part of my life and I just deal with it everyone has something states Casey. -Caseys recommendations to others with CF, Be adherent to your medications, have a well balanced diet, rest, and communicate with your doctor. -Casey believes, The more you put into your health, the more you will get out of it! This LIVING. BREATHING. SUCCEEDING. Podcast/Vodcast series is the 7th in a series of 12 made possible through and unrestricted educational grant from Genentech to The Boomer Esiason Foundation. For more information on cystic fibrosis or the Boomer ...
Fibrosis Video Rating: 5 / 5
Orignal From: Casey Flaherty - Nutrition and Cystic Fibrosis
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