July 2007 Archives

Cystic Fibrosis - What you need to know...


doctor.jpgIntroduction to Cystic Fibrosis (CF)

More than 30,000 young adults and children in the United States suffer from cystic fibrosis (CF).  It affects the lungs and breathing and disrupts the normal function of the epithelial cells, causing those with the disease to become sick.  Therefore, children with cystic fibrosis often find it difficult to participate in strenuous activities even if they are very active.

Understanding this disease and its effects can help parents, teachers, and children better cope with it. This guide will explore cystic fibrosis, what causes it, and the symptoms and treatments.

What is Cystic Fibrosis?

Cystic fibrosis is a genetic disorder that affects the digestive system and lungs. It causes children to be more likely to have infections in their lungs repeatedly. This happens because there is a disruption in the normal function of the body's epithelial cells.  These cells line passageways in the liver, lungs, pancreas, reproductive, and digestive systems. The skin's sweat glands are also made up of epithelial cells.  Patients with cystic fibrosis continuously have an excessive buildup of mucus in the lungs and passageways.

The Dangers of Cystic Fibrosis

Cystic fibrosis poses a serious threat to patients because of the excessive mucus buildup in the lungs. The mucus is very thick and can create the perfect environment for bacteria to develop and grow, especially pseudomonas aeruginosa, which can cause severe life-threatening infections or nosocomial infections in persons with cystic fibrosis.  A cystic fibrosis sufferer has defective CFTRs (cell membranes), and their immune system is unable to offer proper immune response to fight such infections.  Therefore, these infections can be deadly.

A baby with cystic fibrosis usually gets this infection by the age of 3.  By the age of 10, the infection has become chronic in many patients.  Many cystic fibrosis sufferers do not live to be in their 40s.

Another danger of cystic fibrosis is maldigestion due to a poor-working pancreas. This can lead to symptoms of steatorrhea and malabsorption.  The stools will become greasy and large, and may even have visual droplets of fat.  With this condition, the patient might have a difficult time gaining weight.
  
Who is at Risk?

A child or young adult is at risk when they have two cystic fibrosis genes, one gene from each parent. In a person's DNA, or inherited genetic system, there are 23 pairs of chromosomes. The gene that causes cystic fibrosis is located on the 7th chromosome.  A baby born with only one cystic fibrosis gene and not a pair is only a carrier of the disease.  Carriers do not show symptoms of cystic fibrosis, but can pass the genes and the disease to their children. There are an estimated 12 million carriers within the United States. When two of these carriers have a baby together, the baby has a one in four chance of developing cystic fibrosis.

Over time, about 1,200 cystic fibrosis mutations have evolved. Some of these mutations can cause milder forms of cystic fibrosis with milder symptoms as well.  The mutant CF gene called Delta F508 is found in about 70 percent of people with the disease.  It can be detected through genetic testing on adults before they start a family, during pregnancy, or after a child is born.

Caucasians are at the highest risk of having cystic fibrosis while Asian-Americans are at the lowest risk. Almost 1 out of 3,600 Caucasian children has cystic fibrosis. The disease does, however, affect every ethnic group and people from around the world.
Getting a Diagnosis

When it is believed that a child might have cystic fibrosis, a pediatrician will likely perform a sweat chloride test. This test measures how much chloride is present in the child's sweat. If a child does have cystic fibrosis, the chloride level is usually above 60 mEq/L. There are also borderline levels in which further testing will be considered.

There is also DNA testing, which tells if there are two cystic fibrosis gene mutations present in the body.  DNA testing is not 100 percent accurate because there are still many mutations that are unknown. So, DNA testing alone can fail in about 10 to 20 percent of cases.  Another method is to diagnose cystic fibrosis either prenatally or with a newborn screen. In a newborn screen, the levels of immunoreactive trypsinogen are measured.  These levels will be elevated above normal if the child has cystic fibrosis.

Treatment for Cystic Fibrosis

There are many aspects to treating cystic fibrosis.  Treatments often include - but are not limited to - vitamin and mineral supplements, nutritional therapy, replacement of pancreatic enzymes, chest physical therapy, pulmonary therapy, the use of aerosol medications, and antibiotics.

Awareness of Cystic Fibrosis

Cystic fibrosis awareness is increasing as more research is being done to help develop a cure or to find more successful treatment methods.  Through cystic fibrosis support groups, patients and/or their parents are able to find advice and help from others who have been through the same trials and difficulties while battling CF.  Also, the scientific advances toward gene therapy offer hope to be able to repair the CF gene that causes the disease someday.

Cystic fibrosis seems to be a "silent" disease. One might not ever know if a child or person sitting next to them has the disease. But the reality is that cystic fibrosis can be a devastating disease that affects everyone in the family.  Those with a loved one that has been diagnosed can help by learning all they can about the disease and possible treatments.

Cystic Fibrosis Symptoms


Symptoms of Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a hereditary disease that causes respiratory and digestive problems, and in many cases, deadly lung disease. Children are born with the illness when both their parents are carriers of the CF gene.  Each year, about 2,500 babies are born with cystic fibrosis.

The type and severity of symptoms vary with each patient because there are hundreds of mutations of the CF gene. The average lifespan of a person with cystic fibrosis (especially more severe cases) is usually about 30 years old.

Symptoms usually appear within the first year after birth, but there have been cases where the symptoms did not show up until adolescence or even late teenage years. There are many symptoms directly or indirectly related to cystic fibrosis. Below we'll take a look at some of the most common symptoms and how they can affect the patient in their day-to-day living.

Unusual Bowel Movements

One of the early signs of cystic fibrosis is persistent diarrhea or foul-smelling, bulky and greasy bowel movements. The reason for abnormal bowel movements is that mucus blocks the pancreas' ducts and prevents the enzymes that are produced by the pancreas from reaching the intestines for proper food digestion. This can also lead to excessive weight loss and malnutrition. Some babies that are born with cystic fibrosis can develop an intestinal blockage called meconium ileus, which can happen shortly after birth.

Mild-to-Severe Breathing Problems

Mucus also becomes very thick and sticky within the lungs, which can cause mild-to-severe breathing problems. The mucus obstructs the airways and can lead to bacteria formation and infections in the lungs. Lung infections can also lead to wheezing, chronic coughing, and inflammation of the lungs. The mucus buildup often leads to permanent lung damage with scar tissue (fibrosis) and cysts, and eventually death caused by lung disease, over time. 

Salty Skin

A person with cystic fibrosis will have salty-tasting skin. This is because their body is producing or secreting too much sweat and mucus due to a gland abnormality. They lose excessive amounts of salt while sweating, thus, causing their skin to be extremely salty.

Abnormal Heart Rhythms

Losing excessive salt upsets the body's balance of minerals in the blood. This can lead to abnormal heart rhythms or even shock.

Infertility in Males with Cystic Fibrosis

Males with cystic fibrosis are often sterile, or unable to father a child biologically, because the tubes that carry the sperm, called the vas deferens, do not develop properly.  Infertility is possible in women with the disease as well, but less common than with males.

Pneumonia

Cystic fibrosis patients are likely to develop frequent pneumonia because of the mucus buildup within the lungs. That's why it is important to be consistent with treatments on a daily basis to help reduce mucus buildup.

Other Symptoms

There are many other symptoms that are indirectly related to cystic fibrosis. These include sinusitis, nose polyps, pneumothorax, enlargement of the heart, liver disease, diabetes, gallstones, enlargement and rounding of the toes and fingers, abdominal pain, and coughing up blood.

One patient might have many of these symptoms or only a few. This depends on the severity of their cystic fibrosis based on the type of CF mutation they received from their parents genetically.  Though there are treatments for these symptoms, scientists are working diligently toward treating or curing the actual source of the problem - the CF genes.

Cystic Fibrosis Treatment


Common Treatments of Cystic Fibrosis (CF)

When someone is first diagnosed with cystic fibrosis (CF), they might spend a short time in the hospital to receive diagnostic tests to measure their breathing as well as the functioning of the lungs.  They might also have a nutritional assessment. Doctors will want to be sure their lungs are clear and that they are on the right track with proper vitamins and dietary enzymes to help them maintain a normal weight.

After preliminary testing and a prescription of treatments, the patient will usually follow up with the doctor every one to three months. Treatments will vary from one child to the next depending on the severity of the condition. Cystic fibrosis is a genetic disease that is inherited when both parents are carriers of the CF gene.  Because there are hundreds of CF gene mutations, one child's symptoms may vary from other patients, and some conditions of cystic fibrosis will be worse than others.

Therapy Treatments for Cystic Fibrosis

There are two main therapies given to cystic fibrosis patients - pulmonary therapy and nutritional therapy.  Pulmonary therapy is a treatment to help clear mucus from the lungs through exercise, physical therapy, and medications. Chest therapy includes bronchial drainage.  This is accomplished by putting the patient in a certain position that promotes lung drainage. While in this position, the chest or back will be clapped and vibrated to help dislodge and move mucus.

There are mechanical aids available today that help perform this therapy. Inhaled medications are often prescribed to help with breathing. These can include mucolytics to help thin the mucus, bronchodilators for widening breathing tubes, and decongestants that can reduce the swelling in the breathing tube membranes. A new treatment that is being researched is an inhaled spray that contains normal CF genes. The normal genes can enter the lungs through the inhaler to help repair lung damage. Also, there is a protein repair therapy that repairs the defective protein in the body called CFTR.

Medications and Other Treatments

Antibiotics are usually administered to patients with cystic fibrosis for lung infections or other types of infections. These are often taken orally or in the form of aerosol. They can also be injected directly into a vein.

Nutritional Therapy

To help with digestive problems, the patient is often given a manageable diet that is high in calories and low in fat. The diet is also usually high in protein.  Pancreatic enzymes are prescribed to help with digestion. These enzymes are not habit-forming and will not alter behavior. Enzymes help the body to absorb the necessary nutrients from food.  They also help reduce the number of stools, amount of bulkiness in the stool, distension, and abdominal pain. Nutritional supplements given are vitamins A, D, E, and K.  To help with obstructions of the intestines, mucolytic agents and enemas are used.

Patients might also be told to keep salty foods handy. Their body releases excessive amounts of salt through sweat, and the body needs to be replenished of salt throughout the day.

Though these treatments cannot cure cystic fibrosis, they can help the patient better cope with the affects of the disease and live a healthier, fuller life.

Children With Cystic Fibrosis


Cystic Fibrosis (CF) and Children

Children with cystic fibrosis (CF) face many difficulties, especially as they grow older. They are often faced with severe symptoms that can affect their routine on a daily basis. They might even have to be hospitalized from time to time if an illness develops such as pneumonia or another infectious condition.

Children inherit cystic fibrosis only if both parents are carriers of the CF gene or a mutation of the CF gene.  They might experience problems breathing or digestive problems, which can result in malnutrition. As children grow older, the condition worsens and often leads to death by lung disease in many patients.

Children with Cystic Fibrosis and Physical Activity

Children with cystic fibrosis are usually still physically active and might be interested in sports, swimming, horseback riding, skating, biking, or any other outdoor activity just as any other kid. Many children with this condition thrive in a school setting and have excellent attendance records. They might not even appear to be sick most of the time.

The good news is that physical exercise helps to release mucus from the lungs and body. So, exercise should be a part of their daily routine, even if it's a just a little activity. The child should be able to decide how much activity he can handle. It really depends on their breathing. Some days, they might be more active than others depending on how they feel. At school, the child's teacher should know that physical activity is good for them so they won't be overprotective.  Also, the teacher should understand that the child has limitations when it comes to being active.

At-School Needs

At school, a child with cystic fibrosis will require special attention from teachers. This is because the child must keep up with medications, fluids, and certain foods to eat when emergencies arise.

The child will need to keep enzymes with him at all times.  These are to be taken before eating. Enzymes are not habit-forming and will not harm other children if another child ever grabs one and consumes it.  If the child fails to take the enzymes, he may experience stomach pains and need to use the bathroom more often than normal. Many children carry a supply of enzymes in their lunch box to have at lunch and snack time.  Teachers should be mindful of when and if the child is taking enzymes as required.

A child who has CF will usually cough frequently. Coughing is actually good for the lungs and should not be discouraged by teachers.  The child will also need to keep salty snacks and sports drinks on hand to replenish the salt in their body.  A teacher should also be aware that the child may have to slip to the bathroom often or leave the classroom to take care of their special health needs from time to time.

Having a discussion with the entire class about cystic fibrosis could help other students understand what is going on and to be more open and friendly to the child.

Misdiagnosis of Cystic Fibrosis in Children

Children with cystic fibrosis can go on for years thinking they have something else such as chronic bronchitis, pneumonia, celiac disease, or asthma. A misdiagnosis can be detrimental to their health and cause further complications as symptoms increase. Parents and teachers alike should understand the symptoms so they will recognize if a child might possibly have cystic fibrosis.

A Longer Life

In years past, children with cystic fibrosis rarely lived long enough to even reach school age. Nowadays, they are living on into adulthood thanks to better treatments and a greater awareness of the disease.  They can live fulfilling lives and even plan for families and careers for the future.

  

Coping With Cystic Fibrosis


How to Cope with Cystic Fibrosis (CF)

If you or someone in your family has been diagnosed with cystic fibrosis (CF), there are many resources that can help you better cope with the disease.  If you're the parent of a child with cystic fibrosis, you and your child can still lead normal, fulfilling lives by understanding how the disease, treatments, and symptoms affect your child from day to day. Here are some ways parents, teens, and young adults can cope with CF.

Coping as a Parent of a Cystic Fibrosis Patient

If you are the parent of a young child with cystic fibrosis, there are several ways you can be an encouragement to your child.  One thing to remember is that showing frustration toward your child could cause them to feel that having the disease is their own fault. They might feel isolated or unwanted at times because of their special care needs. So always reassure them that you don't mind caring for their needs and that they are special to you no matter what. 

With a young child, it's important to care for them on a daily basis and make it a normal part of their routine. Don't single them out in the family because of their illness, but try to make treatment times and procedures seem as natural for the family as possible.  Also, talk to their siblings about being patient and helpful.

Don't Feel Guilty or Overprotect Your Child

As a parent, you might tend to feel guilty or that you somehow caused your child's cystic fibrosis. Rest assured that you did not cause the disease. Most carriers of the disease don't know it. Many people don't even know that the possibility of being a carrier exists.  Replace that guilt with determination to help your child become all that he or she can be.

Don't overprotect your child, but encourage them to participate in activities with other children. Give them small goals to reach on a daily basis to build self-confidence. Allow them to make some small mistakes so they can learn from them. Teach them that having an illness or disability shouldn't be an excuse for not striving to be all they can be. Help them to become self-reliant and to administer certain treatments on their own as they grow older and mature.

Educate Yourself and Others

Another way to help your child is to educate yourself and others about the disease. Family members and friends should know that the disease is not contagious.  Their children can play with your child without risk of catching cystic fibrosis.  Also, ask your family and friends to explain things to their own children ahead of play time so the children will understand about the treatments and how they work.  This helps to reduce their curiosity so they can play normally together.

With all these things in mind, keep a positive attitude. Displaying the right attitude in front of your child can make all the difference in their well-being. They need to see a light of hope even when things aren't going so well. They need to know you love them but also that you have a positive outlook for their future.

Coping with Cystic Fibrosis as a Teen

If you are a teen or young adult with cystic fibrosis, coping can be difficult at times. Even when you're feeling well, CF can be in the back of your mind because it must be consistently treated. As a teen still living at home, talk things over with your parents if possible when you feel frustrated. There might be times when you don't feel like taking treatments.  Let your parents know about these times so they can help.

Also, be open with your doctor about cystic fibrosis. Let him know how you feel and the struggles you are having. Doctors might have found solutions that work just from dealing with so many other patients with cystic fibrosis. Your parents might even research with you online to learn more about CF and to find others who can offer advice. Also, check to see if there are any groups of other teens with CF in your area so you can meet others who go through the same struggles.

Keep active with your friends and family so you won't become depressed. Sitting around and thinking about it will only make things worse.  Even if you don't feel up to strenuous activity, there are other things you can do to have fun.  See a movie, visit a friend, ask your parents about taking a mini-vacation for the day or the weekend.

At school, don't be afraid or embarrassed to discuss cystic fibrosis with others. The more open you are about it, the more willing others will be to help. You'd be amazed at how your openness can cause other students to relax around you, and they will feel more comfortable talking with you about other things as well.

Advice for Young Adults with Cystic Fibrosis

If you're a young adult with cystic fibrosis, try working a career that you enjoy or taking college classes that stir your interests. Strive to be your best, make good grades, or do your best on the job.  Explain to those you work with or go to school with that you have cystic fibrosis and that some days are better than others.

Keep up-to-date with the latest cystic fibrosis research. Scientists are finding better treatments and working toward a possible cure through genetic therapy. The more you know about it, the better.  Also, ask your doctor frequently if there are new treatments or medicines that will work better than those you are currently using.

This guide has covered the very basic aspects of cystic fibrosis.  If you or a family member suffer from the illness, be sure to keep an open relationship with a cystic fibrosis specialist so you can better cope with the disease using an expert's advice.

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