Health Library

The Health Library is a collection of health and wellness resources created for learning and accessibility. Select a topic below for related health information or search for a topic in the search bar for more information on other medical conditions.

Genetic Conditions

  • Genes determine what you inherit from your parents, from blood type and hair color to certain diseases. Changes in genes or chromosomes may cause health problems. We have hundreds of topics to answer your questions about genetic conditions. Maybe you're wondering about your baby's risk for disease or how to care for a...

  • Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. It helps protect the lungs from the damage caused by inflammation that can lead to emphysema and chronic obstructive pulmonary disease (COPD). People whose...

  • A diagnosis of CF is life-changing. But your child can still have a fulfilling life.

  • Home treatment can help your child live longer. It's not always easy, but you can do it. Here's how.

  • Learn what bronchoscopy is and how it is done.

  • Lung transplant is an option for a few people who have severe lung problems that are caused by cystic fibrosis. The procedure removes the diseased lungs and replaces them with healthy lungs from a recently deceased donor. Sometimes a procedure called a living-donor lobar lung transplant is performed while a person is...

  • What is cystic fibrosis? Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas. People who have cystic fibrosis can have serious breathing problems and lung...

  • A sweat test measures the amount of salt chemicals (sodium and chloride) in sweat. It is done to help diagnose cystic fibrosis. Normally, sweat on the skin surface contains very little sodium and chloride. People with cystic fibrosis have 2 to 5 times the normal amount of sodium and chloride in their sweat. During the...

  • If you need oxygen at home, it is important to learn how to use and take care of your equipment. This information will help you get the most from your oxygen treatment. If you have low blood oxygen levels, breathing extra oxygen can help you feel better and lead to a longer, more active life. You can travel even...

  • Cystic fibrosis causes mucus to become thick and sticky, which can clog the lungs and cause serious problems. You can help your child maintain lung function and avoid complications from mucus buildup and blockage by performing an airway clearance technique (ACT). Postural drainage and chest percussion (PD & P) is one of...

  • Children with Down syndrome can learn to eat by themselves with your help and encouragement. Eating independently is a developmental milestone that involves the use of small muscles (fine motor skills), large muscles (gross motor skills), and...

  • As your child with Down syndrome enters puberty, grooming and hygiene become increasingly important. Your child may need to learn new habits to stay well groomed. Cleanliness is very important for proper socialization and acceptance by peers. Stress...

  • Children with Down syndrome have reduced muscle tone, which can delay development of their motor skills. Children with delays may roll over, sit up, pull up, stand, and walk later than other children their age. Encourage motor skill development...

  • Children with Down syndrome usually have delayed speech and language development. Typically, these children have a much harder time learning to talk (expressive language) than with understanding what they hear (receptive language). On average,...

  • What is Down syndrome? Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person...

  • Your child may have developmental delays as well as other problems that can make children, teens, and adults who have Down syndrome vulnerable to abuse, injury, and other types of harm. You can help manage and prevent these types of problems by...

  • People with Down syndrome usually have some level of independence by the time they become adults. Different types of specialized therapies, counseling, and training can help them learn necessary skills and manage emotional issues. The common types...

  • Children with Down syndrome who do not have severe physical disabilities can learn to dress themselves. Teach your child how to dress himself or herself by taking extra time to explain and practice. Explain what you are doing when you dress your...

  • If your baby is born with Down syndrome, you will likely have many questions and strong emotions. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings and plan for your...

  • If your baby is born with Down syndrome, you will likely have many questions and strong emotions. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings and plan for your...

  • If your child who has Down syndrome is between the ages of 1 and 5 years, you will likely have ongoing questions and concerns. Your doctor can help answer your questions and guide you to appropriate resources to help you manage your feelings and...

  • If your child with Down syndrome is between the ages of 5 and 13, you will likely have ongoing questions and concerns. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings...

  • If your child with Down syndrome is an adolescent or young adult between the ages of 13 and 21, you will likely have ongoing questions and concerns. Your doctor can help answer your questions. And he or she can guide you to appropriate resources...

  • A familial lipid disorder is a condition that runs in families. It causes very high levels of cholesterol. This condition can cause a person to get coronary artery disease (CAD) while still young. Because familial lipid disorders are rare, your doctor may only suspect one if you have: Very high cholesterol...

  • What is Hirschsprung's disease? Hirschsprung's disease is a birth defect that affects the nerve cells in the large intestine. These nerve cells control the muscles that normally push food and waste through the large intestine. In babies who have Hirschsprung's disease, the muscles in the wall of the large intestine...

  • Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food ( metabolism). This enzyme deficiency may cause a buildup of homocysteine in the blood. Excess homocysteine may be released in the urine. Babies born with homocystinuria may fail to grow and...

  • Huntington disease is a rare condition that causes parts of the brain to break down, or degenerate. It is also called Huntington chorea. The disease causes rapid, jerky body movements and the loss of mental skills ( dementia). Huntington disease can cause personality changes, behavior problems, and memory loss. Symptoms...

  • What are mitochondrial diseases? Mitochondria (say "my-tuh-KAWN-dree-uh") are tiny parts of the cells in your body. Mitochondria are often called the powerhouse of a cell, because one of their jobs is to make energy. Mitochondrial diseases are a group of rare diseases that can be passed down from mothers to...

  • Phenylketonuria (PKU) is a rare genetic disorder in which the body cannot break down an amino acid called phenylalanine (say "fehn-uhl-AL-uh-neen"), which is a part of protein. This substance is found in breast milk, many types of baby formula, and...

  • A low-protein diet is the main treatment for phenylketonuria (PKU). This is because people who have PKU lack an enzyme to properly process the amino acid phenylalanine, a part of protein. Phenylalanine is present in all protein foods and in some...

  • Discusses Tay-Sachs disease, a genetic disorder in which little or no hex A enzyme is produced by the body. Discusses screening. Covers symptoms to watch for in babies and young children. Covers late-onset Tay-Sachs disease.

  • The test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (hex A) in the blood. Hex A breaks down fatty substances in the brain and nerves. Tay-Sachs is an inherited disease in which the body can't break down fatty substances as it should, so the fatty substances collect in the nerve cells...

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