Tag Archive | "diagnosis 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 History of Cystic Fibrosis


Cystic fibrosis was a disease that has been around since the Middle Ages. Many infants with salty skin often died in infancy or young. These babies and children were considered bewitched because they died at such an early age.

The scientist Fanconi first named the disease in medical history when he refers to it as cystic fibrosis with Bronchiectasis. A scientist from Columbia University first developed a complete profile and description of cystic fibrosis symptoms. A profile did not help much with treatment in 1938. It was finally discovered in 1949 that cystic fibrosis was caused by a recessive mutant gene. Diagnosed then as a genetic disease improvements are being made each year in treatments for this incurable disease.

In 1953 the Pediatric Society noticed cystic fibrosis patients suffered from excessive dehydration during a heat wave in New York City. Columbia University discovered cystic fibrosis patients were secreting large amounts of salt in their sweat. This is what led to developing the sweat test to diagnose cystic fibrosis.

More advances were not made until the early 1980s when researchers discovered organ damage caused by cystic fibrosis was caused by the malfunction of the epithelial tissue. In 1989 a pair of scientists discover and isolate the gene responsible for cystic fibrosis. The gene was credited to the chromosome number seven. It is responsible for cystic fibrosis.

Today, in 2007, strides are being made in treatment and early diagnosis of cystic fibrosis but there is still no known cure for the disease. The basic problem with the disease of cystic fibrosis is the same in all patients. The abnormality in the number seven chromosomes affects the glands that produce sweat and mucus. Our bodies need sweat to keep cool but the mutant gene causes excessive loss of salt in the sweat. Mucus is good to have too because it lines important organs in our body keeping them from drying out. Cystic fibrosis causes the patients mucus to become excessively heavy, discolored, and sticky. Mucus sticks to the lining and allows germs, bacteria, and infections to linger and cause severe infections.

Cystic fibrosis normally affects the digestive and respiratory system but is known to affect other organs also. CF causes liver problems, digestive disorders, and can even lead to osteoporosis and bone loss. If a person loses a great deal of salt in their sweat, it can cause abnormal heart rhythms and shock. When the digestive organs are affected, the patient does not process food as they should and the body does not receive enough of the vital nutrients it needs.

Patients with cystic fibrosis should take steps to maintain good health including eating healthy foods, staying active, and avoiding smoking or being in a smoky place. Cystic fibrosis patients already have problems with breathing and smoking further complicates an already incurable disease. Staying active will help keep the thick mucus loosened so it can be expelled from the body. Patients may also want to take supplements because the digestive system has problems digesting foods.

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Standard Tests for Diagnosing Cystic Fibrosis


The standard and most common test for cystic fibrosis is the sweat test. Mothers often are performing this test in a maternal way when they kiss their infant and realize they have a salty taste. The sweat test measures the chloride or sodium (salt) is in the childs sweat. The test is normally painless and is conducted by placing a chemical that induces sweat to a portion of the body, usually an arm or leg. Then an electrode is attached to that spot and a mild electric current are passed through the area causing that spot to sweat. The small amount of current may feel tingly or cause that area to feel warm but is harmless and weak. Sweat is collected and sent to a laboratory for analysis for the mutant gene that carries cystic fibrosis.

The sweat test is the most common test and it is done with two separate samples. Both samples may be taken together but will make sure a patient is not given a false-negative or false-positive result. A high slat signals the mutant gene is present in the body and the diagnosis of cystic fibrosis is given. The sweat test does not show how severe symptoms will be or how that person will handle the disease.

The sweat test may not be a test to be used on a newborn because they do not produce enough sweat for a reliable diagnosis. The sweat test is normally not given to an infant until they are two to three months old.

There are other tests that can be performed to test for cystic fibrosis. You may be tested to see if you are a carrier with a genetic analysis from a sample of your blood or saliva. Your child can be tested before birth. If you get a diagnosis of cystic fibrosis it still will not allow you to know how severe the disease symptoms will be. The disease cannot be treated before birth.

Cystic fibrosis is an inherited disease so many families will want to have siblings tested for the mutant CF gene. They may have the gene but show no symptoms of the disease. These tests are usually done as a simple sweat test but in some occasions a blood test will be required. First cousins in a family should also be genetically tested for the cystic fibrosis mutated gene.

Tests can also be performed to test the functioning level of the liver, pancreas, and the breathing capacity of the lungs. Antibiotics will be needed to help fight infections. The heavy mucus allows bacteria, germs, and infections to stay in the system and create chronic respiratory and digestive problems.

The testing done to find out if a person has cystic fibrosis is fairly painless but can be valuable in an early diagnosis of the disease. The disease symptoms are treated and every effort is made to give the patient the best quality of life that is possible with cystic fibrosis.

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Medical Problems Caused by Cystic Fibrosis


Cystic fibrosis symptoms are caused by heavy, thick, mucus. They include frequent coughing that brings up thick discolored mucus and frequent bouts of chest congestion and frequent pneumonia. The skin may taste salty to when the child is kissed and dehydration. The stools of a cystic fibrosis patient are thick, greasy, and smell foul. The patient may be eating well and have a good appetite but fails to gain weight and thrive. Stomach pain, bloating and excessive gas is caused by too much gas in the intestines and is painful.

There are other medical problems caused by cystic fibrosis. Infertility in men is often caused by cystic fibrosis. Sinusitis is caused by the space behind your eyes, nose, and forehead being blocked by thick mucus. They become infected and cause sinusitis when the lining of the sinuses becomes blocked. Sinusitis is common in patients with cystic fibrosis. Nasal polyps may develop in the sinuses and require surgery to remove.

Cystic fibrosis affects the lungs and bronchial tubes. These are the large airways in your lungs. Bronchiectasis is a lung disease that causes these airways to become stretched and flabby. They produce pockets where mucus collects. These pockets are a breeding ground for bacteria and infection causes more damage to the bronchial tubes. This can lead to bronchial infections and serious illness including respiratory failure.

Your pancreas is another part of the body that cystic fibrosis affects. Severe inflammation of the pancreas causes extreme pain. Intestinal blockage is another problem a CF patient may face, especially a newborn baby.

If your lungs are not moving enough oxygen through the body clubbing can be a result. Clubbing is the widening and thickening of the toes and fingers. Clubbing is a definitive sign of cystic fibrosis.

Other serious illnesses and complications include liver disease, diabetes, gallstones, collapsed lungs, and rectal prolapse. Coughing and the body having problems passing stools cause rectal prolapse. This pushes the rectal tissue outside of the body.

Another serious illness you may have because of cystic fibrosis is low bone density. Your body does not get enough Vitamin D and can cause rickets. Your doctor may recommend Vitamin D supplements to prevent low bone density.

If you see any signs or symptoms of cystic fibrosis you should contact your doctor immediately. Frequent cough, repeated bouts of pneumonia and bronchitis, dehydration, diarrhea, stomach pain and excessive gas are symptoms of cystic fibrosis. If your child is eating normally but fails to strive, they should be checked for a diagnosis of cystic fibrosis. Kiss your child somewhere on his or her skin. If the kiss tastes salty that is another sign your child should see a medical professional.

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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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General Symptoms of Cystic Fibrosis Throughout The Body


People often think of cystic fibrosis as only affecting the respiratory organs of the body. This the place cystic fibrosis patients experience the most severe symptoms of cystic fibrosis. The common signs of cystic fibrosis in the pulmonary and respiratory system are commonly known. Coughing, wheezing, frequent bouts of bronchitis and pneumonia, sinusitis and fleshy growths in the nose. Thick, sticky mucus that is discolored when it is brought up is a sure sign of cystic fibrosis.

Cystic fibrosis often will show up in other parts of the body and will not be as easily recognized. This disease will often show up in the digestive organs. A common sign of digestive problems is stomach cramping, pain, and excess gas. Other common signs of a possible diagnosis of cystic fibrosis are diarrhea, stools that look greasy and smell foul. In worse cases a patient may experience a bowel blockage. A patient with cystic fibrosis may have severe vomiting.

The reproduction organs may also be affected. If a child has a delayed onset of puberty and have other signs of the disease this could be a sign of cystic fibrosis. Most males with cystic fibrosis will be sterile. Women with this disease may have difficulty becoming pregnant and be aware of the dangers of passing on the mutant gene that causes cystic fibrosis.

Another part of the body that can be affected by cystic fibrosis is the blood system. Anemia may occur. Anemia is a decrease in the number or make-up of the blood cells. Bleeding disorders such as inability to clot are also associated with cystic fibrosis.

Bone and joint problems is a little known sign of cystic fibrosis. We normally think of respiratory and digestive problems when a person is diagnosed with this disease. It might be surprising to learn that CF may affect arthritis, stunt the growth of a cystic fibrosis patient, severe pain in the joints and bones, and cases of osteoporosis may be attributed to this disease.

Another unusual sign of cystic fibrosis is an enlargement of the fingertips and toes. The digits swell, this symptom is called clubbing. This symptom is not rare but is often overlooked when searching for causes of respiratory, digestive, and reproduction problems. Other miscellaneous signs of cystic fibrosis is the inability to gain weight while still having an appetite and eating a normal diet. Salty skin and sweat, and liver problems are signs that may be overlooked in a diagnosis of cystic fibrosis. This disease could be mistaken for other problems with similar symptoms. Genetic testing needs to be done to confirm the diagnosis of cystic fibrosis. Knowing your family history may help your doctor decide what is causing your distress.

If you are experiencing any problems with breathing, frequent bouts of pneumonia or upper respiratory infections, or have polyps in your sinuses, you should contact your doctor. If you are diagnosed with cystic fibrosis it is helpful to have a medical team that specializes in this disease. Educate yourself also so you will be able to contribute to your own treatment.

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Coping Skills After The Diagnosis


The diagnosis of cystic fibrosis can be devastating for families and the patient. Everyone will go through a range of emotions and each one on their own timetable! Some of those emotions include anger, fear, and guilt. You will have concerns about your childs health, future, and possible financial problems. Teens will have a difficult time adjusting to a diagnosis of cystic fibrosis and it is normal for them to have all those emotions. Talking about the disease, treatments, and other issues about cystic fibrosis will help. It is especially helpful to talk to other people who are dealing with the same issues.

Parents may want to join a support group with other parents with cystic fibrosis children. If your child is older, there may be a group they can join with other teens with the disease. Talking helps ease fear and seeing how others are coping will help reassure them they can still live a full life. Consulting a psychologist may be an important step if your child is having difficulty accepting the diagnosis. Support groups can share experiences, help you find solutions, and lend an ear when you need to talk out your frustrations. If a support group is not available in your area, turn to the Internet for support. There are groups who will provide e-mail support to members. Learning how other patients deal with challenges may help solve some of your own problems.

Live a normal life and encourage your child to live as normally as possible. Parents natural instinct is to protect their child from harm especially if they have a disease that has no known cure. Be careful to not be overprotective. One of the best things you can do for your child is to encourage them to be like other children. Go to school, take part in sports, and have regular social interaction with their peers. Children who are encouraged to act like a regular kid will have less problems coping with their illness. Allow your child to be self-reliant and independent. Most children with cystic fibrosis will grow up, graduate from high school and college, and many will marry and have families of their own.

It is important you plan for your childs future. Start a college fund and encourage them to make plans of their own. You can help your child cope with their disease by talking openly with them and allowing them to express their fear and embarrassment. Teenagers are especially vulnerable to being self-conscious about their difference. No matter how normal you want them to feel, they will still know they are different. Teenagers have a tough time explaining chest therapy, taking a handful of pills before they eat a meal, and the cough that loosens mucus. Encourage them to explain their disease to their circle of friends and explain why they have the cough and other symptoms of cystic fibrosis.

Teens may rebel against their disease or pretend they dont have it. They may not willingly take their medicine, have their chest therapy, or eat healthy. They also may have peer pressure to start smoking. It is normal for a teen to go through this phase of their life but rebelling for a cystic fibrosis teen can be life threatening. If this happens you should consider a counselor or psychologist for help.

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