Tag Archive | "cystic fibrosis gene"

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Defining Cystic Fibrosis


Cystic Fibrosis affects more than 30,000 children and young adults in the United States. It affects children by interrupting the work of the epithelial cells. These are cells that make up the sweat glands. They also line passageways inside the liver, pancreas, lungs, reproductive and digestive systems.

A child inherits the Cystic Fibrosis gene from a parent in the form of a defective protein called Cystic Fibrosis Conductance Regulator. If this protein is not effective, the epithelial cells are not able to regulate the way chloride passes by cell membranes. Chloride is found in ordinary table salt. When this happens it disrupts the balance between salt and water that is needed to maintain the lining in the lungs, the pancreas and other passageways in the body that connect to other parts of the body. These passageways are made of a normal coating of fluid and mucus. A child with Cystic Fibrosis will have that coating become thick, sticky, and hard to move. The Cystic Fibrosis gene is found on the number seven chromosomes, one of the 23 that make up our bodys DNA.

Mucus is normally a good item to have because it traps germs and cleaned out of the body. With Cystic Fibrosis, the mucus stays trapped in the lungs with the germs and become infected. Cystic Fibrosis will also damage or block the passageways that carry enzymes to help the stomach digest foods. A child with Cystic Fibrosis cannot absorb important nutrients, especially fats. The child may be eating a healthy, normal diet and display a good appetite, but will not gain weight.

It takes a pair of Cystic Fibrosis genes for a child to show symptoms of having Cystic Fibrosis. If there is only one gene inherited, the child will be a carrier. They will not have CF symptoms but will pass the gene on to their children. It is estimated over twelve million Americans are Cystic Fibrosis carriers. If both parents are carriers, there is a one-in four chance their child will have the disease. Caucasians have the highest risk for contracting Cystic Fibrosis. Asian Americans have the lowest risk. It is estimated over 3,600 Caucasian babies will be born with Cystic Fibrosis in the United States this year.

Cystic Fibrosis can strike in any area of the world, in every ethnic group, and whether you or rich or poor. Although scientists are unsure why the Cystic Fibrosis gene evolved, they do believe that it may have been because of medicines used to protect earlier generations from cholera. Cystic Fibrosis can be detected by genetic testing before and after the birth of the child. If you have a history of CF in your families, you may want to have genetic testing done to find out if you are a carrier of the defective gene. Nearly 70 percent of those who have CF is because the inherited the gene from both of their parents. The gene is named Delta F508.

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Children With Cystic Fibrosis


Parents who have children have tough times and it can be heartbreaking. Parents often feel guilt because they blame themselves because they passed the mutant gene on to their child. Fear may also be an emotion that a parent will have when their children are diagnosed with a potentially fatal disease. It is normal for parents to feel these emotions and if they are having difficulty coping with the emotions, look for a support group in your area or search for an on-line Internet support group.

You might be one of the twelve million Americans who are unaware they are carrying the mutant gene for cystic fibrosis. Infants are often diagnosed when they are first born because not pass the substance that all normal babies pass within the first few days of birth. Some infants may experience diarrhea and foul-smelling bowel movements. The feces may look greasy and the child may have chronic pain that cause them to cry. Their stomachs may become bloated and they may produce excess gas.

Other babies may not show any signs of the disease for several months. The baby may be eating healthy, have a good appetite and seem to be healthyexcept they are not growing. This failure to thrive is a sign a visit to the doctor may be called for. Another sign of the presence of the mutant gene is excessive salty taste on the skin. Kissing the baby and having it taste like salt is one of the primary symptoms of cystic fibrosis.

One of the hardest things a parent has to do for their child with cystic fibrosis is physiotherapy. Loosening the mucus so it can be expelled. This is uncomfortable for the child and hard for the parent. Cupping your hand and smacking your childs chest and back for half an hour each day is not fun but it is necessary.

Fighting infections and keeping your child as healthy as possible is your priority. The cystic fibrosis gene does not affect the immunity system but the children have a harder time fighting off the infections that normal children get. The mucus that coats the linings of the organs and keeps the body lubricated is too thick to pass through the system. It collects in the air passageways that cause infection to flourish.

The best choice for your child is to help them be as normal as possible. They should be encouraged to take part in sports and social events. Encouraging them to get physical exercise and stay active will give them a better quality of life and help keep the thick mucus loosened up so it can be coughed up. A parents natural instinct is to protect their child and that is fine. Being overprotective will do them more harm than good. Allow them to grow, be independent, learn to make decisions, and be normal. Many cystic fibrosis patients are now living well past infancy and are marrying and raising children of their own.

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Are You at Risk of Having a Child With Cystic Fibrosis?


How do you know if you are at risk of getting cystic fibrosis? It can affect males and females and people from all ethnic groups. The disease is most common in Caucasians. Cystic fibrosis is the most common inherited disease among American Caucasians. Caucasians who have ancestors that came from Northern Europe are most susceptible to getting cystic fibrosis.

Cystic fibrosis is common in Latinos and Native Americans. It is especially prevalent in the Pueblo and Zuni tribes although it is uncertain why they have a higher risk factor. Cystic fibrosis is less common in African Americans and Asian Americans. The disease is believed to evolve from the bodys defense against the disease of cholera. That fact has not been scientifically proved.

A human being has 23 pairs of chromosomes that are inherited from parents called DNA. If there is a defective gene it is the number seven gene that will be a mutant. A child cannot get cystic fibrosis unless both parents have the mutant gene. They could become a carrier if they inherit the CF gene from one parent. Carriers do not show any cystic fibrosis symptoms but can pass the gene on to their children. If both parents are carriers there is a 25 percent chance one of their child will have cystic fibrosis.

There are many mutations of the cystic fibrosis gene. Some will have more severe symptoms than others born with cystic fibrosis. Scientists estimate that as many as one of every 3600 Caucasian babies born in the United States this year will be born with cystic fibrosis. In comparison, there will be one of every 17,000 African American babies born with the disease, and only one of every 90,000 Asian babies will be born with cystic fibrosis.

Scientists estimate that about twelve million Americans are carries of the mutant cystic fibrosis gene. If you know there is cystic fibrosis in your family, you may want to have genetic testing to see if you or your spouse is a carrier for the disease. This may affect your decision about starting or adding to your family. Testing can be done on parents, family members, siblings, and on unborn or recently born children.

Cystic fibrosis is a disease that demands daily care including pulmonary therapy, a special diet high in fats and vitamin supplements to prevent dehydration and proper growth. Special oral doses of enzymes for the pancreas may be required as well as an antibiotic to combat lung infections. A child may be given a mucus-thinning drug to keep their mucus thin and flowing.

New research is taking place on a new drug that goes into the system through the inhalation process and delivers normal copies of the mutant gene number seven. This new gene therapy is undergoing clinical trials in many different health and medical centers throughout the United States. Lung disease is common in most patients with cystic fibrosis causing disability and a shorter life span.

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Are You A Carrier of the Cystic Fibrosis Gene?


Do you know if you are a carrier for the cystic fibrosis gene? If you are parents and want to start a family or are planning on having another child and are concerned because there is cystic fibrosis in your family history, consider genetic testing. Cystic fibrosis is an inherited disease a child could get if both parents carry the recessive gene that contains cystic fibrosis. You could be a carrier without showing signs of the disease and pass it on to your child. If your spouse is not a carrier, there is still a 25 percent chance your child will also be a carrier. You have a higher risk of being a carrier of cystic fibrosis if you are a Caucasian and descendent from a family in Northern Europe. Although other ethnic groups can be affected by cystic fibrosis, they have much less risk than a Caucasian.

The difference in ethnic groups who are carriers of this mutant gene are shown by these statistics:

Caucasians have a 1 in 29 chance of carrying the cystic fibrosis gene
People of Latino background have a 1 in 46 chance of carrying the gene
African-Americans have a 1 in 65 chance for having the mutant gene
Asian-Americans have the least risk of being a carrier; the rate for this ethnic group is 1 in 90.

The Cystic Fibrosis Foundation estimated about 30,000 adults and children in the United States have cystic fibrosis. This disease severely affects several organs in the body but especially the respiratory and digestive systems. The abnormal gene makes normally thin, watery mucus turn into thick, heavy, and sticky mucus that adheres to the walls of the important passageways to these organs.

The mucus collects in the lungs and passageways and prevents bacteria from being coughed up and expelled from the body. This promotes serious infections that become acute and can cause significant damage to the lungs. These severe infections can potentially be life threatening.

If your doctor determines you and your partner are both carriers of the mutant gene, the unborn child can be tested in utero. The infant cannot be treated for the disease until after the birth but it does give parents a chance to educate themselves about the disease and explore different was of treating CF. Although you can discover if your baby has this inherited disease, it will not tell you the severity of the symptoms or which organ of the body will be the most seriously affected.

There is renewed hope for those who suffer from cystic fibrosis. New methods of treatment, new medications, and new physiotherapy methods are giving the cystic fibrosis patient have a longer life. It can also help improve the quality of life. A person can do much toward staying healthy by eating a healthy diet, staying away from secondhand smoke, and exercising regularly. Self-care is important for a person with cystic fibrosis. A small child or infant may need help to treat their disease.

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