Related concepts:

Gilles de la Tourette syndrome, tics, PANDA

Introduction to tourette syndrome:

The great English poet, author, and conversationalist, Dr. Samuel Johnson, is believed to have had Tourette syndrome, complete with both facial and vocal tics. His towering success in his day — before useful medicines had been developed – can be an inspiration and encouragement to today’s families living with Tourette.

What is tourette syndrome?

Tourette syndrome is named for Georges Gilles de la Tourette who first described the condition in 1885. Tics (involuntary, non-rhythmic movements) are the hallmark of the disease.
Brain scans and EEGs show differences in the brains of children with Tourette’s. These changes are influenced by genetics, neurobiology, and by what is going on in the child’s life.

Who gets tourette syndrome?

Gilles de la Tourette syndrome affects about one out of every 2,000 people. Tourette syndrome occurs worldwide, in all ethnic groups – though it is most common among whites. The condition usually runs in families. It is three to four times more common in boys than in girls, and usually begins before the age of seven.

What are the symptoms of tourette syndrome?

Tics are the classic symptom of this condition. In many children, these are so mild as to hardly be noticed. In others, the tics are severe and intrusive.
Motor tics are most people’s first symptoms. These may be simple, sudden, involuntary movements such as eye blinking, facial grimacing, lip licking, or fist clenching. They may also be more complex tasks such as chewing a shirt, hopping, or clapping. Whatever the movement, it is outside the child’s control – although this is often followed by a voluntary movement in an attempt to disguise the tic.
Vocal tics can also be a symptom of Tourette. They are also outside of a child’s control. Grunting, throat clearing, sniffling, hissing, clicking, whistling, and barking are simple vocal tics. Coprolalia, the involuntary speaking of obscenities, is a complex vocal tic, and the most famous symptom of Tourette syndrome. Echolalia (the compulsion to repeat words that are heard), and palilalia (the compulsion to repeat one’s own words) can also be Tourette’s symptoms.
Physical exertion, intense concentration, and sleep all suppress the symptoms of Tourette syndrome. I know a delightful man with Tourette who is very successful as a professional drummer (without medication).
Emotional stress, on the other hand, brings out the symptoms.
Children with Tourette also have a higher risk of other problems, such as obsessive-compulsive disorder.

Is tourette syndrome contagious?

Tourette can be triggered by some infectious diseases, such as Lyme disease or strep. PANDA (Pediatric Autoimmune Neuropsychiatric Disorder) is the name given when antibodies to streptococcal infections trigger the symptoms.

How long does tourette syndrome last?

For most, Tourette is a lifelong condition. Thankfully, most have a significant decrease in their symptoms over time.

How is tourette syndrome diagnosed?

Tourette is often suspected based on the history and physical examination. Sometimes brain scans, EEGs, or neurotransmitter levels are used to clarify the diagnosis.
If there is any possibility of recent strep or Lyme disease, tests for them should be run, because specific treatment may be necessary both now and in the future.

How is tourette syndrome treated?

A number of medicines have been very successful in controlling the symptoms of Tourette.
These each have some side effects, and may not be used if the Tourette isn’t interfering much in everyday life. However, when the Tourette is very troublesome the medicines can be wonderful.
If strep or Lyme disease are identified, they must be treated aggressively.
Other types of support may also be important for the child with Tourette.

How can tourette syndrome be prevented?

Usually, Tourette syndrome is difficult to prevent. Lyme disease is generally preventable. Measures to prevent Lyme disease or strep may be helpful to reduce the risk of Tourette syndrome.
In the last few years, researchers have discovered some clues about the genetics of Tourette syndrome. In 2005, researchers from Yale University identified a genetic mutation present in some patients with Tourette syndrome. Clearly, more research is needed to determine the genetics of this condition and the potential for gene therapy.

Related A-to-Z Information:

Attention Deficit Hyperactivity Disorder (ADHD), Breath Holding, Encephalitis, Epilepsy, Head Banging, Hiccups, Lyme Disease, Night Terrors, Rabies, Scarlet Fever, Strep Throat, Streptococcus (Strep), Ticks

Related concepts:

Hemoglobin S

Introduction to sickle cell anemia:

Normal red blood cells are soft, gel-like discs that can squish as needed to slip through the tiny capillaries of the body. In sickle cell disease, the red blood cells are brittle.

What is sickle cell anemia?

Sickle cell disease is caused by a genetic variation of hemoglobin, the molecule that carries oxygen in the red blood cell. Sickle hemoglobin (hemoglobin S) is very slightly different from normal hemoglobin (hemoglobin A); only one amino acid, the sixth from the end, is different.
When the hemoglobin is carrying oxygen it functions normally. When not carrying oxygen, however, the molecules link together to form rigid rods. The red blood cells become sickle-shaped.
These brittle blood cells are easily destroyed, leading to anemia. They can also get stuck, leading to crises where not enough oxygen gets to the tissues.
Children with two hemoglobin S genes have classic sickle cell anemia (SS). Those with one hemoglobin S gene and one normal hemoglobin gene are carriers (AS – or sickle cell trait). Those with one hemoglobin S gene and one other abnormal hemoglobin gene have a variant of sickle cell disease (such as hemoglobin SC disease or hemoglobin S beta-thalassemia).

Who gets sickle cell anemia?

Sickle cell disease is an inherited condition. Both parents must carry the trait. The trait is thought to be so common because it changes the red blood cells in a way that makes people resistant to malaria.
Sickle cell anemia is most common in people of African, Indian, Middle Eastern, or Mediterranean descent. Nevertheless, it can occur in all peoples.

What are the symptoms of sickle cell anemia?

Young babies with sickle cell anemia often have no symptoms for the first several months. Anemia develops by about 4 months of age. The first symptom is usually painful swelling of the hands and feet as a result of sickle cells being trapped in the small blood vessels of the bones.
In young children, the spleen is often enlarged, swollen by a collection of sickled red blood cells. Over time, the spleen is destroyed by this process, leaving children more susceptible to certain infections, including Haemophilus influenzae and pneumococcus. They are also particularly susceptible to salmonella bone infections.
Pain is a common feature of sickle cell anemia. It can become quite severe during pain crises. These may be triggered by fevers or other illnesses.
Acute chest syndrome is another sickle cell crisis. In this case the lung tissues receive inadequate oxygen.
A parvovirus B19 infection (fifth disease) can trigger something called an aplastic crisis. In an aplastic crisis, red blood cell production drops. Because of the already increased destruction of red blood cells that occurs in sickle cell disease, the numbers of red blood cells can plummet dangerously.
Sickle cell anemia often causes other problems as well, including jaundice, strokes, liver disease, kidney disease, gallstones, heart disease, eye problems, painful erections, and poor growth.

Is sickle cell anemia contagious?

No

How long does sickle cell anemia last?

This is a lifelong condition, unless corrected by something such as bone marrow transplantation.

How is sickle cell anemia diagnosed?

Sickle cell anemia is tested for on many newborn screening tests so that it can be diagnosed before children develop symptoms. It can also be diagnosed by specific blood tests.

How is sickle cell anemia treated?

Children with sickle cell anemia need close care by someone skilled at treating the condition in order to prevent and treat complications. This includes special attention to immunizations and to aggressive treatment of routine illnesses and fevers. Antibiotics are given to prevent infections as well. Staying well hydrated is important.
Each of the sickle cell crises demands prompt treatment.
A number of medicines have been used to reduce sickling or to increase levels of better functioning hemoglobin.

How can sickle cell anemia be prevented?

Newborn screening, early diagnosis, and aggressive management can prevent many of the complications of sickle cell anemia. The disease itself cannot occur unless two carriers have children together. About ½ of their children will be carriers, and another ¼ of their children will have the disease.

Related A-to-Z Information:

Anemia (Low hemoglobin), Arthritis (Juvenile rheumatoid arthritis, JRA) , Cystic Fibrosis, Dehydration, Depression, Fifth Disease, Haemophilus Influenzae (H flu, Hib), Influenza (Flu), Parvovirus B19, Pneumonia, Salmonella, Streptococcus (Strep)

Related concepts:

PKU, Classic phenylketonuria, Benign hyperphenylalaninemia, Malignant hyperphenylalaninemia, Transient hyperphenylalaninemia.

Introduction to PKU:

The sweetener aspartame, and many protein-rich foods, can act like poisons to children with PKU.

What is PKU?

Phenylalanine is an essential amino acid, one of the building blocks of protein that we need in our diets. Extra phenylalanine that we eat or drink is normally broken down by a specific enzyme and its cofactor.
If there is not enough of the enzyme or its cofactor, then the extra phenylalanine builds up in the blood (hyperphenylalaninemia) and spills into the urine (phenylketonuria). This excess can cause brain damage.
Classic PKU is deficiency of the key enzyme, phenylalanine hydroxylase.
Deficiency of the cofactor, tetrahydrobiopterin, is even worse, because the cofactor also has other important roles in the body. It is necessary for manufacturing neurotransmitters in the brain, so its absence can result in brain damage in at least two different ways. Deficiency of the cofactor is called malignant hyperphenylalaninemia, because it does not respond to ordinary PKU treatment.
Benign hyperphenylalaninemia is a mild deficiency of the key enzyme, allowing babies to develop normally if they do not eat excess protein.
Transient hyperphenylalaninemia is the name given to those babies who have a temporary inability to process phenylalanine. As they mature over the first few weeks of life, transient hyperphenylalaninemia disappears.

Who gets PKU?

PKU is an inherited condition, passed along as a recessive trait. There are over 100 different variations of the gene that can result in PKU. When both parents are carriers, about one in four of their children will have the disease.
Babies with classic PKU are often the blondest children in the family. They are typically blue-eyed, fair-skinned babies.
Transient hyperphenylalaninemia most often occurs in premature babies in the first month of life.
PKU is somewhat rare (seen in fewer than one in 10,000 children), but important to identify. Early treatment can make a huge difference for these children.

What are the symptoms of PKU?

Babies with classic PKU are normal at birth, except for missing the necessary enzyme to process phenylalanine. As they get phenylalanine in the diet, brain damage gradually occurs and accumulates and intelligence is lost at a rate of about 4 IQ points per month during the first year. If untreated for a year, babies lose almost 50 IQ points, resulting in severe mental retardation.
Sometimes these babies vomit – so much so that they might mistakenly be thought to have reflux or an intestinal obstruction. Seizures and rhythmic rocking are common. They have small heads, small bodies, and poorly developed teeth. Skin rashes may also result. These children often have an unpleasant musty or mousy odor from the excess by-products of unprocessed phenylalanine.
Babies with malignant hyperphenylalaninemia may have similar symptoms, but even with appropriate PKU treatment they tend to have increasing neurologic problems by 3 months of age, including excess drooling, loss of head control, and seizures.
Babies with benign hyperphenylalaninemia or transient hyperphenylalaninemia usually have no symptoms at all.

Is PKU contagious?

No.

How long does it last?

Except for transient hyperphenylalaninemia, which usually lasts less than a month, these conditions are life-long.

How is it diagnosed?

PKU is usually identified on the newborn screening test, but the screening test is most reliable if performed after 48 to 72 hours of life.
The newborn PKU test is a screening test, not a diagnostic test. It simply identifies which kids should be tested further, but not which have PKU. Most children with a positive screening test do not turn out to have the disease.
Specific tests are then needed to confirm and identify the specific problem. All people with suspected PKU should be tested for cofactor deficiency as soon as possible.

How is PKU treated?

Classic PKU is treated with a careful, strict low-phenylalanine diet. Because phenylalanine is an essential amino acid, it must not be eliminated from the diet – only decreased. Careful balancing, frequent monitoring, and close supervision are important. Low phenylalanine formulas are available.
Human breast milk is fairly low in phenylalanine content. The ideal for most infants with PKU is to be fed some breast milk (so that the many benefits can be obtained), while adjusting the diet appropriately. Babies receive a measured amount of phenylalanine-free milk and an adjusted amount of breast milk. Phenylalanine levels need to be monitored.
Alternatively, a complete formula for PKU, which contains some phenylalanine, is available.
Significant levels of phenylalanine are found in protein-rich foods such as milk, dairy products, meat, fish, chicken, eggs, beans, and nuts. It is also found in the artificial sweetener aspartame. Now you know why, when reading food labels, you may notice the warning, “Phenylketonurics: contains phenylalanine”.
The low-phenylalanine diet focuses on fruits, vegetables, rice, corn, potatoes, and low-protein breads and pastas. A phenylalanine-free formula rich in protein, vitamins, minerals and energy (calories) can provide the proper balance.
Dietary restriction is wise throughout life, and especially later during pregnancy. As kids get older, the dietary restrictions can be tough on them and on the family. It’s important to receive emotional and practical support from experienced people.
Children with malignant hyperphenylalaninemia also need the low-phenylalanine diet. In addition, they may need treatment with neurotransmitter precursors and replacement cofactor.
Children with benign hyperphenylalaninemia may be able to keep their phenylalanine levels in control by simply reducing total protein intake. Some do best on a low-phenylalanine diet.

How can PKU be prevented?

PKU is not a preventable disease, though the damage of PKU can usually be prevented by early identification and treatment. In addition to newborn screening, prenatal testing and carrier testing are possible.

Related A-to-Z Information:

Attention Deficit Hyperactivity Disorder (ADHD), Dehydration, Epilepsy, Fragile X Syndrome, Galactosemia, Head Banging, Reye Syndrome, Tay-Sachs Disease, Vomiting

Related concepts:

Martin-Bell syndrome, Marker X syndrome, Cluttering

Introduction to fragile X syndrome:

Fragile X syndrome is the most common cause of mental retardation in boys.

What is fragile X syndrome?

Fragile X syndrome is a condition caused by a fragile area on the X chromosome. This section of the chromosome contains ‘repeats’ in the genetic code. Higher numbers of repeats is associated with more severe forms of the disease.

Who gets fragile X syndrome?

The number of repeats in a fragile X chromosome tends to remain constant when transmitted by a father but to increase each time it is transmitted by a mother. Those with 200 to 2000 repeats (or even more) have the symptoms of full-blown fragile X syndrome. Girls with fragile X syndrome have varying degrees of symptoms.

What are the symptoms of fragile X syndrome?

The classic symptoms are mental retardation, large size, large testicles, and a long face with a prominent jaw and large ears. Often the eyes are pale blue.
Torticollis and cleft palate are more common in those with Fragile X.
These children also tend to be hyperactive and sometimes have some of the stereotypical movements associated with autism.
Cluttering is the name of their characteristic speech pattern. Like stuttering, cluttering is a speech disorder, but cluttering involves pauses in normal speech that are too short, too long, and in the wrong places. These may come from talking in fast spurts, or from not knowing what one wants to say. Corrections, revisions, and interjections are common. (People who stutter know what they want to say but have difficulty getting the words out.)

Is fragile X syndrome contagious?

No

How long does fragile X syndrome last?

This is a lifelong condition.

How is fragile X syndrome diagnosed?

Fragile X is diagnosed with specific chromosome testing.

How is fragile X syndrome treated?

There is no cure for fragile X syndrome. Therapy is aimed at helping people with fragile X reach their full potential.

How can fragile X syndrome be prevented?

Once a baby is conceived with fragile X, nothing can change that. Timing of childbearing may make some difference in inheritance. We do know that women who are carriers are more likely to have had older fathers.

Related A-to-Z Information:

Attention Deficit Hyperactivity Disorder (ADHD), Cleft Lip and Palate, Down Syndrome, Fetal Alcohol Syndrome, Head Banging Phenylketonuria, Stuttering, Tantrums, Torticollis

Related concepts:

Alcohol use during pregnancy

Introduction to fetal alcohol syndrome:

It used to be thought that drinking during pregnancy was fine for the baby. Fetal alcohol syndrome wasn’t discovered until 1968, and even then the effects of drinking during pregnancy weren’t widely accepted for several years. It is now widely recognized that exposure to alcohol as a fetus can have physical, behavioral, and cognitive consequences.

What is fetal alcohol syndrome?

The more a woman drinks during pregnancy, the higher the risk to her baby. This risk includes miscarriage and cerebral palsy. There is also a characteristic pattern of alcohol effects known as the fetal alcohol syndrome. It is a major cause of mental retardation and congenital heart defects.

Who gets fetal alcohol syndrome?

Full-blown fetal alcohol syndrome occurs in one or two out of 1000 babies. Babies born to heavy drinkers have double the risk of those born to moderate drinkers. Babies born to moderate drinkers still have a 50 percent higher rate of birth defects when compared to babies born to mothers who did not drink during pregnancy.

What are the symptoms of fetal alcohol syndrome?

The classic symptoms of fetal alcohol syndrome include poor growth (short, thin babies with small heads), a characteristic face (with a thin upper lip), congenital heart defects (especially ASD and VSD), joint and limb problems, and developmental delay.
Some children experience only mild effects, while others are profoundly affected.

Is fetal alcohol syndrome contagious?

It is not contagious, but babies only get it when exposed to alcohol by someone else.

How long does fetal alcohol syndrome last?

It is a lifelong condition.

How is fetal alcohol syndrome diagnosed?

It is diagnosed based on the history and physical exam.

How is fetal alcohol syndrome treated?

There are treatments for some of the symptoms (heart surgery, for instance, is sometimes needed for the heart defects), but there is no treatment for fetal alcohol syndrome.
Involvement of the appropriate team of therapists is important to help the baby reach his or her maximum potential.

How can fetal alcohol syndrome be prevented?

Avoiding alcohol during pregnancy reliably prevents fetal alcohol syndrome.
Many parents ask if there is a “safe level” of alcohol consumption while pregnant. Studies have shown that consuming 1 or more alcoholic drinks (a drink is defined as 1.5 oz distilled spirits, 5 oz of wine, or 12 oz of beer) per day has been associated with increased risk of giving birth to an infant with growth retardation (Pediatrics, Vol. 106 No. 2 August 2000).
Even when full-blown fetal alcohol syndrome is not present, attention problems, aggression, and delinquent behavior have been found to be three times more likely in children whose mothers who had as little as one drink per week during pregnancy (Pediatrics, Vol. 108 No. 2 August 2001).

Related A-to-Z Information:

Attention Deficit Hyperactivity Disorder (ADHD), Bowlegs, Cerebral Palsy, Cleft Lip and Palate, Clubfoot, Congenital Heart Disease, Congenital Hip Dislocation, Rubella (German measles)

Related concepts:

Trisomy 21

Introduction to Down syndrome :

Down syndrome is the most common chromosomal abnormality syndrome in humans.

What is Down syndrome ?

Humans are built to have two sex chromosomes as well as two copies of each of the other 22 chromosomes. Sometimes when babies’ genetic material is being assembled, they get too much or too little of one chromosome or another. The most common chromosomal abnormalities are trisomies – 3 copies of one of the chromosomes. The most common of these is trisomy 21, or Down syndrome. Most of these children have 3 freestanding copies of chromosome 21; a few have the third copy mixed in with normal genetic material. The condition was first described by John Down almost 150 years ago.
These children usually have decreased intelligence, but increased unselfconscious, openness, and affection. Children with Down syndrome face many medical and developmental problems. Nevertheless, many families report that the joys and rewards of having a child with Down syndrome in the family far outweigh the difficulties.

Who gets Down syndrome?

The risk of Down syndrome increases with the mother’s age. Under age 30, the risk is about 1 in 1500 births. Above age 35, the risk has increased to the degree that amniocentesis is often recommended to detect the syndrome. Still, the risk at age 35-39 is given as only 1 in 200 to 270 births. For all women over age 40, the combined risk is 1 in 60 to 85 births (specific risks are available by age).

What are the symptoms of Down syndrome?

Children with Down syndrome usually have a characteristic facial appearance, with up-slanting eyes, a flat bridge of the nose, and a relatively large tongue. Their muscle and ligament tone is often decreased.
Developmental delays, ranging from mild to severe, are another common characteristic of Down syndrome.
There are many other body systems that may be involved, and additional conditions may include thyroid problems, heart defects, diabetes, leukemia, and eye, ear, and neck problems.

Is Down syndrome contagious?

No.

How long does Down syndrome last?

Down syndrome is a lifelong condition.

How is Down syndrome diagnosed?

Down syndrome is often diagnosed before birth by checking the baby’s chromosomes, either by amniocentesis or by chorionic villus sampling. Down syndrome may also be suspected from blood tests (low alpha fetoprotein, low unconjugated estriol, and high hcg – the triple screen). This can detect close to 90 percent of babies with Down syndrome, but the false positive rate is high.
Early ultrasound screening is becoming increasingly popular. An area of fluid under the skin behind a baby’s neck can be measured at 10-14 weeks. This measurement, called the nuchal translucency, has been found to be increased in babies with Down syndrome. Another ultrasound measurement is that of the nasal (nose) bone at 10-14 weeks. Down syndrome has been associated with babies with nasal bones that are missing or smaller than normal at 10-14 weeks. When these ultrasound screening tests are combined with blood tests, a detection rate of greater than 90% can be achieved.
Ultrasound findings may also suggest Down syndrome.
After a baby is born, the diagnosis is suspected by the characteristic physical examination. It is confirmed by checking the baby’s chromosomes.

How is Down syndrome treated?

Early intervention programs can be very helpful in helping children with Down syndrome to reach their full potential. Careful ongoing medical care is also needed to address and treat the many complications of Down syndrome.
There is no treatment for the underlying chromosomal problem. Because parents of children with Down syndrome want so much for their children, they are sometimes sold products or treatments that sound too good to be true – and are. Not all of these therapies are benign. Work with your health care team to evaluate possible therapies and make wise decisions based on the best that we know about the condition.

How can Down syndrome be prevented?

Having your children at a younger age decreases the risk of Down syndrome. Still, most children with Down syndrome around the world are born to young mothers (because most babies are born to young mothers).

Related A-to-Z Information:

Anorectal Malformations (Imperforate anus), Cataracts, Congenital Heart Disease, Ear Infection, Fetal Alcohol Syndrome, Fragile X Syndrome, Inconspicuous Penis, Nearsightedness, Otitis Media with Effusion (OME), Strabismus (Crossed eye, Wandering eye, Wall eye), Tay-Sachs Disease, Type I Diabetes

Related concepts:

CF

Introduction to cystic fibrosis:

A diagnosis of cystic fibrosis was once assumed to be an early childhood death sentence. As of 2009, the median lifespan was in the mid-30s, according to the CF Foundation Patient Registry. Children with CF attend school normally, graduate from college, and assume their places in the adult world. Still, the shortened lifespan is painfully poignant. But treatment continues to advance rapidly. Those born with CF today may see a dramatically brighter outlook by the time they are 10 or 20 years old.

What is cystic fibrosis?

Cystic fibrosis is an inherited condition where important membrane linings do not function properly. Thickened, rubbery mucus results in blockage and infection throughout the respiratory tract. The pancreatic and bile ducts are blocked, leading to severe digestive problems. Sweat and other secretions contain increased salt.
CF is the major cause of severe chronic lung disease in children. It is also a leading cause of pancreatic problems.

Who gets cystic fibrosis?

CF is inherited as a recessive condition. Both parents must carry the recessive gene and pass the gene to their child in order to result in CF. It can occur in any ethnic group, but it is most common among Caucasians of Northern or Central European ancestry, where, according to the American Lung Association, it affects about 1 in 2500 children.
Why is such a deadly recessive gene so common? Some theorize that carriers of the gene were protected against the ravages of cholera.

What are the symptoms of cystic fibrosis?

CF can cause a wide variety of symptoms in many organ systems.
The most prominent feature of CF is usually chronic problems with the respiratory system. This might include a chronic cough (to attempt to move the thick mucus) especially in the morning or after exertion. Children with CF might develop severe or frequent bronchiolitis, pneumonia, and/or sinusitis. Wheezing and clubbing of the fingernails are common.
Problems stemming from the GI tract are the next most common feature. This might include difficulty passing stool (especially that first meconium stool); rectal prolapse; large, smelly, greasy stools; and failure to gain weight (even with a large appetite).

Is cystic fibrosis contagious?

No

How long does cystic fibrosis last?

At present, CF is a lifelong condition with a median survival of about thirty years.

How is cystic fibrosis diagnosed?

CF may be diagnosed on newborn screening tests in some areas. When the diagnosis is suspected, because of family history or classic symptoms, specific testing is done. This might include a sweat chloride test, genetic testing, a nasal membrane test, or a variety of other studies.
Couples who are pregnant or are planning on becoming pregnant may be interested in prenatal genetic testing to determine whether they are carriers of the abnormal CF gene. The test identifies the majority of genetic mutations in the CF gene, but extremely rare mutations may be missed. A sample of blood or mouthwash is sent to the laboratory, and the results are usually ready in 5 to 10 days. If both partners are identified as CF carriers, the pregnant mother may opt to undergo a special procedure called chorionic villus sampling or amniocentesis in order to determine if the unborn baby has inherited the two abnormal CF genes.

How is cystic fibrosis treated?

When possible, CF treatment should be provided by a team of people who specialize in this area. The Cystic Fibrosis Foundation can be helpful in finding such a team (www.cff.org).
Typically, a pulmonologist (lung specialist) is the head of such a team. Comprehensive preventive care is important, coupled with aggressive treatment of complications when they inevitably arise. Chest therapy is aimed at keeping the airways hydrated and clear, and treating infections aggressively. Nutritional therapy includes replacing pancreatic digestive enzymes and tailoring the diet and supplements to match the child’s needs.

How can cystic fibrosis be prevented?

At present, the only way to prevent conceiving a child with CF is to avoid two carriers conceiving together.

Related A-to-Z Information:

Appendicitis, Asthma, Bronchiolitis, Common Cold, Cough, Dehydration, Gastroesophageal Reflux, Hernia (Inguinal hernia), Hydrocele, Jaundice (Bilirubin, Hyperbilirubinemia), Pneumonia, Respiratory Distress, Sinusitis, Staph (Staphylococcus aureus), Type I Diabetes, Undescended Testicle (Cryptorchidism), Wheezing

Related concepts:
Achromatopsia, protanopia, deuteranopia, red-green colorblindness

Introduction to colorblindness:

The dazzling experience of color begins when light strikes a canvas of tightly packed nerve cells in the back of the eye. These rods and cones, as they are commonly called, fire a storm of nerve impulses in response to the light, which then travel down the optic nerve to the visual centers of the brain. The rods are the “black-and-white” receptors; they photograph the ever-changing patterns of light and darkness that are before our eyes. The cones are responsible for the wonder of color vision.

What is colorblindness?

Cones come in three varieties: red, blue, and green. Red light stimulates the red cones, and simultaneously inhibits the surrounding green cones. Green light does the exact opposite (green and red are opponent colors). Blue light stimulates the blue cones and inhibits both red and green cones (red and green light, mixed, form yellow light — blue’s opponent color).
The rainbow of colors we see are combinations of these three primary colors of light. Nothing inherent about the primary colors make them primary — it is only that we have these three types of cones, and that the entire spectrum of visible light can be coded by using only these three reference points. Another species could use a different number or group of colors as primaries.
In kindergarten, children learn that red, yellow, and blue are the primary colors. These are the primary colors of paints or pigments. When you add pigments together, fewer wavelengths of light are reflected to the eye, and if you mix them all, you can get black. The primary colors of light are red, blue, and green. As you add light together, you get more wavelengths of light, and if you mix them all together, you can get white light. Projection televisions use red, blue, and green projectors, since we have red, blue, and green cones.
The ability to see colors is relatively rare among vertebrates. Humans and other primates see in color, but most other mammals do not. Most fish and amphibians do see in color, as well as some birds and reptiles. Unlike most insects, butterflies and bees have color vision to guide them on their journeys.
We humans are all born colorblind! The cones don’t begin functioning until a baby is about 4 months old. At that time, the baby undergoes a gradual transformation that is as remarkable as the scene in the Wizard of Oz when Dorothy leaves the black-and-white world of Kansas for the brilliant colors of Oz. About one out of 40,000 babies never develops cones, seeing only in black-and-white throughout life. This is called achromatopsia, or rod-monochromatic colorblindness.
There are many other versions of colorblindness, but by far the most common is red-green colorblindness, which affects as many as one out of 25 people. These people either do not have red cones (protanopia) or green cones (deuteranopia). They are unable to distinguish between green and red, but with their remaining two types of cones are able to see all of the other colors. The absence of blue cones is extremely rare.

Who gets colorblindness?

Colorblindness is almost always a hereditary condition. Red-green colorblindness is a recessive condition passed on the X chromosome. Only one healthy color vision gene is necessary to provide color vision. Since boys have only one X chromosome, it is much easier for them to be colorblind. If their mothers are carriers (having one normal X chromosome and one colorblind X chromosome), the sons have a 50 percent chance of having the condition. Red-green colorblindness occurs in about 8 percent of American males. These men cannot pass the condition on to their sons (since they give their sons a Y, not an X, chromosome), but they will pass the gene to their daughters.
All girls whose fathers are colorblind will at least carry the gene for colorblindness. In order for a girl to actually be red-green colorblind, she must have a mother who is a carrier AND a father who is colorblind. This happens in only about 0.64 percent of American girls. These numbers vary considerably in other population groups.

What are the symptoms of colorblindness?

Colorblindness is often first noticed on a screening test. If it is noticed earlier, the symptom is usually an apparent difficulty learning some or all of the colors.

Is colorblindness contagious?

No

How long does colorblindness last?

This is generally a lifelong condition.

How is colorblindness diagnosed?

Colorblindness is usually tested at children’s four-year physicals. The doctor asks them to identify a red and a green line on the eye chart. If any question remains, more precise visual testing can determine the exact nature of the problem.

How is colorblindness treated?

There is no known way to restore color vision in those who have hereditary colorblindness. By being aware of their condition, we can help our children learn other ways to distinguish between red and green — the position of traffic lights, for instance. In addition, we can decorate their worlds, and wrap their presents, in the millions of nuances of color that are still available to them.

How can colorblindness be prevented?

There is no practical way to prevent color blindness.

Related A-to-Z Information:

Amblyopia (Lazy eye), Astigmatism, Blocked Tear Duct, Cataracts, Deafness, Pseudostrabismus, Strabismus (Crossed eye, Wandering eye, Wall eye)

Dr. Greene’s Answer:

It is now possible to determine the father even before a baby is born. This is done by comparing DNA molecules — our genetic blueprints. To do this you need a blood sample from both the mother and the potential father (testing without the mother’s blood is possible, but more difficult — and more expensive). You also need a small sample of amniotic fluid (the water that the baby is floating in). Less than 1/4 teaspoon is sufficient for the test. The amniotic fluid may be obtained by a process called amniocentesis. This procedure is performed no earlier than 13 weeks into the pregnancy.

A court order or informed consent of all adults involved is required to proceed with paternity testing.

You will need to wait 3 to 4 long weeks for the results. Waiting for these test results can be a very anxious time. Rush orders take 10 to 15 business days, but cost about $500 extra.

If the test says that the person tested is the father, then he probably is — there is about a 99.8% chance. DNA testing is now legally accepted as able to determine paternity.

Prenatal paternity testing can be arranged through a company called Genelex, located in Seattle, Washington. They are very helpful, and can be reached at 1.800.523.6487. The test costs $700, and is usually not covered by insurance.

If you wait until after the baby is born, DNA testing can be arranged through most local blood banks (many of which use Genelex). The blood sample can be obtained at birth. Otherwise, the baby should be at least 2 months old, since a fair amount of blood is needed for the test. In my area, this option costs about $600, and is usually not covered by insurance.

There is also a less expensive method. For years, the only legally acceptable way to determine paternity was something called Human Leukocyte group A antigen typing, or HLA typing, which looks at the whole complement of proteins found on the surface of white blood cells — and on most cells throughout the body. A person’s HLA type is like her genetic fingerprint. It is how her body determines if an individual cell is a part of her or an invader (a cancer, a virus-infected cell, or foreign tissue). HLA typing technology was first developed in the 1950′s to insure matching in transplant cases. HLA typing is available at blood banks, and although insurance will not cover it for determining paternity, the tests may be obtained for several hundred dollars.

Dr. Greene’s Answer:

Having a baby is a lifelong responsibility and hopefully an even greater reward — for somebody! As a mother’s belly swells, she knows with deep certainty that the child is hers. Each time the baby moves or kicks, the bond between her and her child grows.

Depending on the situation, the father may be pretty sure that the child is his. For most of history, though, dads have had to rely on circumstantial evidence as the foundation on which to build this crucial relationship. After the baby was born, he could feel more sure he was the dad if the baby looked like him (“He has your feet, Honey!”), but often these early resemblances are at least partially creative imaginations.

In 1901 biologist Karl Landsteiner distinguished between three types of blood — groups A, B, and O. A fourth group — AB — was discovered a year later by another research team. As the inheritance patterns of these blood groups were worked out over the next decades, it became possible to use blood tests to exclude some men from being the fathers of some children. For instance, if the parents both have blood type O, then the children must all have blood type O. If a child were to have blood type A, B, or AB, then the presumed father must not be the real father. If the child’s blood type were O, then the presumed father might be the real father — but so might millions of other men. Here is a list of possible and impossible situations:

These are general rules, though, and exceptions apply. Very rarely, gene mutations may change the rules such that “impossible children” become possible. The geneticists at Stanford wrote a great explanation to this on the website for The Tech Museum of Innovation, at www.thetech.org/genetics/ask.php?id=181.

Today there are over 600 blood types known (as well as other tissue types called HLA types), which can make paternity testing far more accurate — but still not perfect.

It is also now possible to determine the father before a baby is born. This is done by comparing DNA molecules — our genetic blueprints. To do this you need a blood sample from both the mother and the potential father (testing without the mother’s blood is possible, but more difficult — and more expensive). You also need a small sample of amniotic fluid (the water that the baby is floating in). Less than 1/4 teaspoon is sufficient for the test. The amniotic fluid may be obtained by a process called amniocentesis. This procedure is performed no earlier than 13 weeks into the pregnancy.

A court order or informed consent of all adults involved is required to proceed with paternity testing.

You will need to wait 3 to 4 long weeks for the results. Waiting for these test results can be a very anxious time. Rush orders take 10 to 15 business days, but cost about $500 extra.

Either way, if the test says that a man is not the father, then legally and truly he is not (it can absolutely exclude some men as the father of a certain child). If the test says that he is the father, then he probably is — there is about a 99.8% chance that he is. DNA testing is now legally accepted as able to determine paternity.

There are about one million two hundred eighteen thousand five hundred males in Jamaica (as of 1992). A positive DNA paternity test could limit the potential fathers to only about 2,437 of them (plus 0.2% of the tourists). Only 2 out of 1000 men could possibly be the father. As you can see, a positive paternity test is good evidence, but not an ironclad guarantee.

Prenatal paternity testing can be arranged through a company called Genelex, located in Seattle, Washington. They are very helpful, and can be reached at 1.800.523.6487 or www.healthanddna.com/. The test costs $700.

If you wait until after the baby is born, DNA testing can be arranged through most local blood banks (many of which use Genelex). The blood sample can be obtained at birth. Otherwise, the baby should be at least 2 months old, since a fair amount of blood is needed for the test. In my area, this option costs about $600.

I realize that the circumstances that prompt a person to undergo paternity testing are often difficult. I hope that whatever you want turns out to be true. Even more, I hope that whatever turns out to be true becomes something that you learn to want.