Cystic Fibrosis

What Is Cystic Fibrosis?

Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs.

Normally, mucus is watery. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. But in CF, an abnormal gene causes mucus to become thick and sticky.

The mucus builds up in your lungs and blocks the airways. This makes it easy for bacteria to grow and leads to repeated serious lung infections. Over time, these infections can cause serious damage to your lungs.

The thick, sticky mucus can also block tubes, or ducts, in your pancreas. As a result, digestive enzymes that are produced by your pancreas cannot reach your small intestine. These enzymes help break down the food that you eat. Without them, your intestines cannot absorb fats and proteins fully.

As a result:

·  Nutrients leave your body unused, and you can become malnourished.

·  Your stools become bulky.

·  You may not get enough vitamins A, D, E, and K.

·  You may have intestinal gas, a swollen belly, and pain or discomfort.

The abnormal gene also causes your sweat to become extremely salty. As a result, when you perspire, your body loses large amounts of salt. This can upset the balance of minerals in your blood. The imbalance may cause you to have a heat emergency.

CF can also cause infertility (mostly in men).

The symptoms and severity of CF vary from person to person. Some people with CF have serious lung and digestive problems. Other people have more mild disease that doesn't show up until they are adolescents or young adults.

Respiratory failure is the most common cause of death in people with CF.

Until the 1980s, most deaths from CF occurred in children and teenagers. Today, with improved treatments, people with CF live, on average, to be more than 35 years old. Research continues to look for:

·  Better treatments

·  A cure

http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html

Currently, there is no cure for cystic fibrosis (CF). However, technological advancements in medicine allow many individuals with CF to live into adulthood. However, CF patients who do live longer are at a higher risk of developing complications of the disease such as lung infections and bowel blockage. It is important to note, however, that the severity, number, and type of symptoms can vary widely from patient to patient. Additionally, because CF affects many different systems of the body, a wide variety of techniques and medications are used to treat the condition and its complications. While the treatment of CF depends upon the severity, stage, and progression of the disease; general goals are:

  1. to ensure adequate calorie and nutrient consumption
  2. to increase airflow in the lungs
  3. to decrease the volume and thickness of lung mucus
  4. to prevent/treat infection in the lungs

There are currently 115 Cystic Fibrosis Foundation (CFF) treatment centers scattered throughout the United States. These unique treatment centers specialize in diagnosing and treating cystic fibrosis. For more information regarding CFF treatment centers, you can visit the following link: http://www.cff.org.

Nonpharmacologic (non-drug) therapies

Nutrition/Exercise

CF patients often do not absorb enough calories, protein, and vitamins from their usual daily diet to maintain adequate nutrition. As a result, individuals with CF are advised to increase their daily intake of calories to 120%-150% of the recommended daily allowance (RDA). CF patients should also increase the amount of protein in their usual daily diet by 200% of the RDA of protein. Nutritional supplements, such as Ensure, Sustical, and Scandishakes, may help CF patients maintain the amount of nutrients they require each day.

CF patients should exercise as tolerated to help loosen mucus build-up so that it may be removed more easily. Exercise also helps to expand the lungs and increase lung capacity (amount of air the lungs are able to hold). However, exercise may not be appropriate for all CF patients. It is important for patients to talk with their doctor before beginning to exercise.

Chest physiotherapy/postural drainage/percussion/chest vest

Because CF can cause patients to produce abnormally thick and sticky mucus, a variety of methods are available to help remove the secretions. Postural drainage is an alternative process used to help clear mucus from the lungs by altering the patient's position. Classic techniques, such as chest percussion (tapping on the chest and back) and the chest vest (a vibrating vest) have also been used to help dislodge and remove excessive mucus in the lungs of CF patients. In addition, innovative breathing devices, such as oscillatory positive expiratory pressure (OPEP) devices (such as the Acapella and the Flutter) can be used to loosen mucus. By exhaling into the OPEP device, vibrations are created which help move the abnormal secretions from the lungs.

Oxygen & Transplant

In severe cases of CF, the patient's damaged lung function could become life-threatening necessitating the need for an oxygen machine. If the physician determines that the patient is a good candidate for transplantation, he/she will be put on a lung transplant waiting list. It should be noted, however, that a lung transplant will not cure CF. Patients with the following conditions should not be considered for lung transplantation:

·  Cancer

·  HIV infection

·  Major psychiatric illness

·  Severe damage to other body organs

·  Severe overweight

Pharmacological (drug) treatment

Digestive Enzymes

In patients with CF, defects of a gene known as CFTR alter the function of a protein that regulates ion transport, which is the normal movement of sodium, chloride, and water in the body. This alteration causes secretions to be abnormally heavy, thick, and sticky. Normally in healthy people, the pancreas is a gland that produces digestive enzymes (proteins that help break down food such as amylase, protease, and lipase) which are excreted through small channels into the small intestine when food is present. However, the abnormal mucus in CF patients clogs these channels in the pancreas, resulting in an insufficient amount of digestive enzymes in the stomach. As a result, food is not digested correctly and intestinal problems such as diarrhea and bowel blockage occur. Because CF patients usually do not have enough digestive enzymes in their intestines to break down the food they eat, they must take supplemental oral digestive enzymes. Ordinarily, digestive enzymes are taken with every meal or snack in often large doses.

Bronchodilators

Maintaining adequate airflow is important to CF patients because a reduction in the ability to breathe can often cause a great deal of anxiety as well as hypoxemic (lack of oxygen) complications. If CF patients do not obtain enough oxygen, the organs (such as the brain) of the patient are at great risk for obtaining damage. To combat this potential problem inhaled bronchodilators have been widely used to help maintain adequate airflow and lessen the breathing difficulties that CF patients experience.

Inhaled/oral corticosteroids and ibuprofen As a result of the numerous lung infections that CF patients experience, chronic inflammation of the lung tissue can occur. If the lung tissue remains inflamed for a great deal of time (days-months), damage can occur, thus resulting in the loss of lung function. In order to decrease the amount of lung inflammation, drugs such as corticosteroids (natural hormones normally made by the adrenal gland) can be prescribed. By decreasing the frequency and severity of lung inflammation, corticosteroids (such as prednisone) may prevent future lung problems. Non-steroidal anti-inflammatory drugs such as ibuprofen are another group of drugs that may help decrease the severity of symptoms in CF patients by decreasing inflammation. Because of potentially severe side effects, it is only appropriate to take ibuprofen exactly as your physician prescribes.

Mucolytic or Mucus-thinning drugs

Since CF causes patients to produce abnormally thick and sticky mucus, drugs that thin the mucus can be given to patients. Thin mucus is easier to be cleared from the lungs of individuals with CF, thus allowing them to breathe easier. For example, a drug called DNase (also known as recombinant human deoxyribonuclease or dornase alfa) works to thin mucus by breaking apart the genetic material (DNA) contained in the abnormally thick secretions. This action decreases the viscosity (thickness) of the secretions, therefore allowing the mucus to be easily cleared.

Antibiotics

Lung infections, in general, are difficult to control and cure. In CF patients, however, the challenge to treat lung infections increases. The bacteria that cause these lung infections are able to multiply and flourish in the presence of the sticky and thick secretions found in individuals with CF. Mucus can also prevent antibiotics from reaching the infection site, consequently making it more difficult to treat. In light of this complicated situation, new inhaled and oral (tablets and capsules) antibiotics have been developed to help control recurrent lung infections in CF patients.

http://www.drugdigest.org/DD/HC/Treatment/0,4047,851,00.html

Down Syndrome

What is Down Syndrome?

Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21.

Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of Chromosome 21 (also called trisomy 21 because there are three copies of this chromosome instead of two), which changes the body’s and brain’s normal development.

(For more information on chromosomes, see Cells 101.)

What are the signs and symptoms of Down syndrome?

Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down syndrome than in those without the condition.

Mental retardation is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives). Most people with Down syndrome have IQs that fall in the mild to moderate range of mental retardation. They may have delayed language development and slow motor development.

Some common physical signs of Down syndrome include:

  • Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
  • Deep crease in the palm of the hand
  • White spots on the iris of the eye
  • Poor muscle tone, loose ligaments
  • Small hands and feet

There are a variety of other health conditions that are often seen in people who have Down syndrome, including:

  • Congenital heart disease
  • Hearing problems
  • Intestinal problems, such as blocked small bowel or esophagus
  • Celiac disease
  • Eye problems, such as cataracts
  • Thyroid dysfunctions
  • Skeletal problems
  • Dementia—similar to Alzheimer’s

What is the treatment for Down syndrome?

Down syndrome is not a condition that can be cured. However, early intervention can help many people with Down syndrome live productive lives well into adulthood.

Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school. Many children can integrate well into regular classes at school. For more information about treatments for Down syndrome, visit one of the Web sites provided below or ask your health care provider.

Who is at risk for Down syndrome?

The chance of having a baby with Down syndrome increases as a woman gets older—from about 1 in 1,250 for a woman who gets pregnant at age 25, to about 1 in 100 for a woman who gets pregnant at age 40. But, most babies with Down syndrome are born to women under age 35 because more younger women have babies.

Because the chances of having a baby with Down syndrome increase with the age of the mother, many health care providers recommend that women over age 35 have prenatal testing for the condition. Testing the baby before it is born to see if he or she is likely to have Down syndrome allows parents and families to prepare for the baby’s special needs.

Parents who have already have a baby with Down syndrome or who have abnormalities in their own chromosome 21 are also at higher risk for having a baby with Down Syndrome.

Once the baby is born, a blood test can confirm whether the baby has Down syndrome.

http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm

Sickle Cell Anemia

Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells, which leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait. A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.

Bone marrow transplant offers the only potential cure for sickle cell anemia. But very few people have a suitable donor for transplant.

As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. If you have sickle cell anemia, you'll need to make regular visits to your doctor to check your red blood cell count and monitor your health. You may also require treatment from specialists at a hospital or sickle cell anemia clinic. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen, as well as bone marrow transplant.

http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324/DSECTION=treatments-and-drugs

Haemophilia

The list of signs and symptoms mentioned in various sources for Hemophilia includes the 12 symptoms listed below:

  • Symptoms range in severity from mild to severe
  • Bleeding
  • Bruising
  • Bruising easily
  • Clotting difficulty
  • Hemorrhage
  • Excessive bleeding from wounds
  • Excessive bleeding after injury
  • Bleeding into joints
  • Bleeding into muscles
  • Intracranial bleeding - from minor head injury
  • Internal bleeding - in severe cases

http://www.wrongdiagnosis.com/h/hemophilia/symptoms.htm