Tag Archive | "history of cystic fibrosis"

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When Should You See A Doctor?



If you suspect your child may have cystic fibrosis, you should contact your doctor immediately. Do you know you have a risk of passing on the mutant gene that causes cystic fibrosis? Does your child have other signs of this incurable disease? Those signs can be newborns that are not growing properly, chronic breathing and respiratory problems, and bulky, greasy stools. If your doctor is not growing steadily along the percentile curve may be a sign of cystic fibrosis.

You should contact your doctor if your child has frequent upper respiratory infections, recurring bouts of pneumonia, or other breathing difficulties. A child that may already be at risk for cystic fibrosis should be taken to the doctor if they develop a fever, seem tired when they are normally active or have a decreased appetite. If you receive a diagnosis of cystic fibrosis for your child, schedule a visit to a clinic that specializes in that disease. Your child will need to see a doctor for periodic examinations to check for any lung or digestive problems that may be developing.

Do not despair if your child is diagnosed with cystic fibrosis. It is a natural reaction for a parent to blame each other for the childs disease. Remember, there is nothing you did or did not do that gave your baby cystic fibrosis! Concentrate on giving treatments and allowing your child to grow with an improved quality of life. If you know you have a risk of being a carrier of the mutant gene that carries cystic fibrosis, you might want to be tested to see if you are a carrier of cystic fibrosis. Most doctors now offer genetic testing to all couples that are planning to start a family.

If you are pregnant and suspect you could be at risk for having a child with cystic fibrosis, your baby can be tested before he or she is born. It will tell you if the child has the disease but cannot tell you how severe the disease will be. If you child is diagnosed with cystic fibrosis before birth, you will have time to learn all you can about the disease and to find clinics and doctors that specialize in CF.

You should see your doctor if you have a family history of cystic fibrosis. Your risk is greater if your family is of Northern Europe descent and white. Cystic fibrosis is not as prevalent in African-American, Asian-American, and Hispanic ethnic groups. The chances of a person of Asian ancestry getting CF is one in 90, the chances of an African-American getting the disease is 1 in 62. White Caucasians have a one-in 29 chance of developing cystic fibrosis. Your greatest risk of having cystic fibrosis is if your have a family history of the disease. Your chance doubles when both parents have cystic fibrosis in their family history.

If you have a child who is having any signs of having cystic fibrosis, take them to see your doctor immediately. The sooner the diagnosis is made, the better the chances of treating and easing the symptoms of the disease.

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The Risk for Being A Carrier for Cystic Fibrosis


The only way a person can inherit the cystic fibrosis if both their parents are carrier of the mutant cystic fibrosis gene. Scientists know that one in every thirty people are carriers of this mutant gene. Your risk is higher if you are a Caucasian with ancestors that came from the Northern part of Europe. If you have a family history of cystic fibrosis, you are more likely to be a carrier of the mutant gene. If you are Caucasian, your risk of being a carrier of the disease is 1 in 29. The statistics change dramatically for those of Latino descent. Only 1 in 46 people will be a carrier. If you are of African-American descent the risks drop even lower. Only 1 in 90 African-Americans will be a carrier for the mutant cystic fibrosis gene.

If you have genetic testing and find you and your partner are both carriers of this mutant gene, your doctor can test your baby before it is born to see if the baby has the disease. It cannot be treated before the baby is born, but if you are aware the disease is present you will have time to look at all choices. It will allow you time to learn as much as you can about the disease and search for specialists or clinics in your area. Education is power. The more you know about this disease, the better you will be in handling the treatment. Cystic fibrosis is not curable, and any tests taken on embryos will not be able to discover how severe the symptoms will be for that child.

Cystic fibrosis is not curable but is treatable and new advances are being made in the treatment of this disease. Previously, the average lifespan for a child diagnosed with cystic fibrosis was 16 years old. Now patients are living much longer with the average lifespan close to 40 years old.

Doctors and scientists estimate there are more than 30,000 children and adults with cystic fibrosis in the United States. Cystic fibrosis affects major organs of the body including the lungs, the digestive tract, reproduction organs, and the liver. Thick, sticky mucus accumulates in the respiratory and digestive organs. This mucus becomes hard and difficult to remove because it is thick and sticky. This restricts the flow of air in the respiratory system and keeps the body from digesting food. Food not digested properly can cause malnutrition and an inhibited growth to a young child.

There are times when a child is not diagnosed with cystic fibrosis until they are teens. The first sign of cystic fibrosis may be the delay of the onset of puberty. Normally, cystic fibrosis is diagnosed within the first few months of life. Remember, your infant cannot inherit cystic fibrosis unless both you and your partner are carriers of the mutant cystic fibrosis gene. If only one parent is a carrier then the infant there is a twenty five percent chance a child may be a carrier of the CF gene.

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Screening Patients for Cystic Fibrosis


Previously, potential parents were tested for the cystic fibrosis gene only if they were considered especially at risk for passing on the disease. Doctors are now routinely ordering the test for partners wanting to have their first child or add to their family.
The test can be performed after the time of conception to see if your baby is at risk for cystic fibrosis. This disease cannot be treated before the baby is born. Your doctor can perform more tests on your baby as the baby develops. Testing done before birth will help you consider the best choices for raising and treating your unborn child.

If you are concerned you or your partner may be a carrier of the mutant cystic fibrosis gene, a sample of blood or saliva from you and your partner can be screened. There are some mutations of the genes that will not show up on this early test. In rare cases, a test may be returned as normal but the person may still be a carrier. This happens rarely but can occur in some patients.

The standard test for diagnosis cystic fibrosis is the sweat test. This test measures the amount of sodium in the persons sweat. An abnormally high-level can be a sign the person has cystic fibrosis. A small amount of an odorless chemical is applied to a small area of the body and an electrode stimulates a mild electric current passes over that spot. It is normally painless; you may feel a tingling or warm feeling because the electric shock is mild. The sweat is collected from the area and sent to a lab for analysis. This sweat test is performed on two samples to make sure a false positive or false negative does not occur. If the sweat collected has a high-level of sodium (salt) it can suggest the patient has cystic fibrosis. This test will not decide how severe the disease will be in the individual and it cannot predict how the person will do with treatment.

The sweat test is not a useful tool in diagnosing newborn babies for cystic fibrosis. Most babies do not produce enough sweat in the first month of life to get an acceptable sample. Sweat tests are normally performed when the infant is two to three months old. If your baby is considered high risk for developing cystic fibrosis, the doctor may want to test the baby as well as any siblings in the family. There are other tests available to use on newborn and infants. These test can measure how well the pancreas, liver and the lungs are working.

Cystic fibrosis is an inherited disease. Testing may be suggested for other family members. First cousins may want to be tested to see if they are carriers of the mutant cystic fibrosis gene. If there is a history of cystic fibrosis in a family you may want to seriously consider genetic testing before you start your family or add to your existing family.

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Genetic Testing and Diagnosis of Cystic Fibrosis


Prospective parents who have a history of cystic fibrosis in their family may want to consider DNA testing before starting or adding to their family. Cystic fibrosis is an inherited disease that can only be passed on to the child if both parents are carriers of the mutant gene that causes cystic fibrosis. If only one parent is a carrier but shows no signs of the disease the child has a 25 percent chance of also being a carrier of the gene.

DNA analysis involves screening molecules found in the DNA to look for the carrier gene. The gene is associated with the number seven chromosomes. There are over 900 mutations of the cystic fibrosis gene. This means screening is never totally accurate. The tests results are only 80 to 85 percent accurate. Genetic testing has cut the birth rate of babies born with cystic fibrosis. Many prospective parents are having genetic testing and opting out of having a child if they are both carriers of the mutant gene.

The most common test to discover the presence of the mutant cystic fibrosis gene is called the sweat test. It is normally not done on an infant younger than two to three months old because they do not sweat enough to get enough samples. The sweat test measures the salt in the sweat of a patient suspected of having cystic fibrosis.
Sweat is collected from the body by first applying a substance that increase sweat on either an arm or a leg. An electrode is then placed on the area and a mild current of electricity is run through the electrode. There is not any pain associated with this test. The most you should feel is a warm feeling or a mild tingling. A special material will collect the sweat from two separate parts of the body and tested. This double test is conducted to avoid getting a false-negative or false-positive reading.

Ironically, it is normally the mother of an infant will perform her own sweat test without realizing it. She may kiss her baby and notice their skin tastes salty. Understanding this may not be normal she will take the baby to the doctor to see if there is something wrong. An infant may display signs of bowel obstructions, chronic diarrhea, bloating of the stomach, pain and excess gas. An infant that fails to grow at a normal rate even though they are eating normally should also be taken to a doctor for evaluation.

Another test used for newborns is the IRT test. Normally this test is a routine procedure done after the birth of a baby. Blood drawn two or three days after birth is analyzed for a protein called trypsinogen. If the babys test comes back positive, the doctor may confirm the diagnosis with a sweat test and other diagnostic tests.

Other form of testing that is done to diagnose cystic fibrosis includes chest X rays, tests to discover the lung function the patient has, and testing the sputum that a patient coughs up. There also stool examinations to make the diagnosis of cystic fibrosis.

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Cystic Fibrosis and Pregnancy


Scientists and researchers recently released a study showing a decline in birthrates of babies with cystic fibrosis since genetic testing became available. The general public has more knowledge and understanding of the disease that was a mystery for so long. In medieval times the people believed a baby was bewitched when they displayed symptoms of what we now know is cystic fibrosis. With new research and new methods of genetic testing, many hope there will be an another reduction in the birthrate for CF babies. Cystic fibrosis in men will make them sterile, but a woman may still conceive and carry a child to full-term or near full-term.

A child cannot be born with cystic fibrosis unless both of his or her parents are carriers of the mutant gene. That gene was identified in 1988 and is called the cystic fibrosis transmembrane conductance regulator gene. It is associated with the number seven chromosomes. If only one parent is a carrier of the gene, there is a 25 percent chance their child will be a carrier for the disease. There are millions of people in the United States alone who are carriers for cystic fibrosis but do not have signs or symptoms of the disease in their body. Most do not even know they are carriers.

Studies have been conducted on birthrates of children born with cystic fibrosis. A study from Italy shows that babies with cystic fibrosis are often preterm and have a lower than average birth weight. The birth weight was lower than normal for even full-term babies. One of the first signs of cystic fibrosis may be a failure to thrive while eating normally.

Screening for cystic fibrosis in newborns has changed and there are now new ways of testing when the baby is young. The most common form of testing is the sweat test but it is not effective for screening newborn babies. New tests are now being done with the normal blood tests babies have after they are born. The test will be looking for a protein associated with the pancreas and screening their immune system. This would remove the need for a full DNA analysis and can be done at a lower cost.

North America is concentrating on improving quality of life for newborns with cystic fibrosis and finding new ways of treatment. There is no known cure for cystic fibrosis but many new methods of testing, diagnosing, and treating the disease has given CF patients a better quality of life and increased their lifespan.

Your doctor can do genetic testing on you and your partner if there is a history of cystic fibrosis in your family. You may want to consider having the tests done before you decide to get pregnant or add to your family. Testing can be done on babies before they are born to find out if they have cystic fibrosis although there is no way to treat them. The testing gives the parents extra time to learn all they can about the disease and its treatment.

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