Hemophilia

Hemophilia (say: hee-muh-fih-lee-uh) is a genetic disorder in which a person's blood does not clot properly. "Hemo" means blood and "philia" means a tendency toward. A person who has hemophilia has a tendency to bleed excessively. Think of the last time you had a cut or scrape. When the bleeding stops on its own, you're seeing clotting in action.

A Bit About Blood

If your blood is clotting normally, your body naturally protects itself. Platelets, which are "sticky cells," go to where the bleeding occurs and cover the hole, plugging it up. This is the first step in the clotting process. When the platelets plug the hole, they release chemicals that attract more sticky platelets and also activate various clotting factors, which are proteins in the blood.

These proteins mix with the platelets to form fibers, which make the clot stronger and stop the bleeding. Our bodies have clotting factors that work together to make fibrinogen (say: fy-brih-nuh-jun), the substance that makes the fibers. Trouble begins if the body is missing one of these factors.

A person can have one of two types of hemophilia, A or B. It depends on which clotting factor they are low on. If someone produces 1% or less of the affected factor, the case of hemophilia is called severe. Someone who produces 2% to 5% has a moderate case, and someone who produces 6% to 50% of the affected factor level is considered to have a mild case of hemophilia.

Why Do Kids Get Hemophilia?

Hemophilia almost always affects boys. Why? Because the disease is an X-linked genetic disorder, passed from mother to son. Boys get an X chromosome (say: kro-muh-soam) from their mother and a Y chromosome from their father. If the mother carries the gene for hemophilia on one of her X chromosomes (girls have two X chromosomes), each of her sons will have a 50% chance of having hemophilia.

A mother who is a carrier also has a 50% chance of giving the faulty X chromosome to her daughter. That does not give the daughter the hemophilia disease, but it does result in the daughter becoming a hemophilia carrier. So it's possible one of her sons someday could have the disease.

How Do Doctors Know a Kid Has Hemophilia?

Doctors may find out that a baby has hemophilia if he bruises easily or bleeds a lot after getting a cut. Another sign is swelling in a baby's joints. Babies who are learning to crawl usually bump into things, but ordinarily this doesn't cause swelling in their joints. If they do, it's a tip-off that there may be bleeding in the joints, which usually doesn't happen from normal activities or minor bumps.

Doctors will ask parents questions and do some blood tests to figure out whether the baby might have hemophilia. There is also a blood test that can be done to determine if the mother is a carrier.

What Do Doctors Do?

Even kids with severe hemophilia often live long and healthy lives. A cut or minor wound is usually no big deal for a person with hemophilia, but internal bleeding can be serious. When bleeding occurs in the joints, muscles, or internal body organs, treatment is necessary. Patients with more serious cases of hemophilia often get regular shots of the factor that they're missing to prevent bleeding episodes. Kids with moderate or mild cases of hemophilia usually don't need these shots unless they have a more serious injury or require surgery.

Scientists are working on developing gene therapy for people with hemophilia. Gene therapy is an experimental technique that tries to provide the body with the genetic information it doesn't have. Hemophilia is considered a good test for gene therapy because it is caused by only one defective gene. It could be a way to change the way someone's body works so that the body can produce the missing clotting factors on its own.

How Kids With Hemophilia Can Stay Healthy

Life for a kid with hemophilia is much like life for any other kid. However, these kids need to take a few precautions. For instance, a kid with hemophilia who doesn't feel well should not take any product that contains aspirin, ibuprofen, or naproxen sodium. These medications make people without hemophilia bleed for a longer time, so they are a bad idea for anyone with the disease.

Heavy contact sports like wrestling, football, and hockey can be dangerous and are generally not safe for kids with hemophilia. Team sports, such as soccer, basketball, or baseball, present a higher risk for kids with hemophilia but are not off-limits.

But sports are encouraged for kids with hemophilia because exercise makes muscles stronger, which protects the joints. Weak muscles don't support the joints as well, making bleeding episodes more frequent. Kids and their parents should talk with the doctor about choosing a sport, but swimming, running, and bicycling are often recommended. So if you have a friend who has hemophilia, maybe the two of you can get out there for some splashing, dashing, and biking!

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Mental retardation

There's a kid at school who seems different. You've heard people say he has mental retardation (say: ree-tar-day-shun), but what does that mean?

What Is Mental Retardation?

To understand mental retardation, it helps to know what intelligence (say: in-tel-uh-jents) is. Intelligence is a way of describing someone's ability to think, learn, and solve problems. Mental retardation means that someone has lower than average intelligence.

The person may have trouble learning and might need longer to learn social skills, such as how to be friends or how to communicate with others. People with mental retardation also might be less able to care for themselves or unable to live on their own as adults.

Sometimes kids who have mental retardation get teased or bullied. This is especially sad because these kids really need friends and people who will be kind to them. Just because they have learning problems doesn't mean they don't have feelings! Just like you, these kids want to be liked and to have fun at school.

During school, a kid with mental retardation will probably need help. Some kids have aides that stay with them during the school day. Special education and other services are available to help with learning and behavior.

They can also receive help in learning "life skills." Life skills are the skills people need to take care of themselves as they get older, such as how to ride a public bus to get to work. More and more, people with mental retardation are able to have jobs and to live independently.

What Causes Mental Retardation?

Mental retardation is not a disease itself. It occurs when something injures the brain or a problem prevents the brain from developing normally. Many times we don't know why a person has mental retardation. These problems can happen while the baby is growing inside his or her mom, during the baby's birth, or after the baby is born.

While a Baby Is Growing

If a pregnant mom gets certain infections or sicknesses, it can cause problems with the baby, such as mental retardation. Some medicines, which are OK to take when a woman is not pregnant, can cause serious problems if a woman takes them when she is going to have a baby. A woman also can put her baby at risk of mental retardation if she drinks alcohol or takes certain drugs during her pregnancy.

Problems with genes also can happen while the baby is growing inside the mom. Genes are in every cell and tell the cells what they are going to be and how the body is going to develop. Mental retardation is one problem that can be caused by genes. Children have a combination of genes from both their parents, so sometimes they receive genes that are abnormal or the genes change while the baby is developing.

During the Birth

If there is a problem during childbirth so that the baby's brain doesn't receive enough oxygen it can cause mental retardation.

After the Baby Is Born

Sometimes the baby is born without any problems, but he or she gets a serious infection as a young baby. This kind of infection can make a baby very sick and affect how the brain develops. A serious head injury also can cause mental retardation in a baby or an older kid.

How Do Doctors Know If Someone Has Mental Retardation?

Doctors figure out that a person has mental retardation by testing how well the person thinks and solves problems. If a baby or kid has mental retardation, doctors and other professionals can work with the family to decide what type of help is needed.

Can Mental Retardation Be Prevented?

Mental retardation can't always be prevented. However, a couple can have tests done to determine if they are at risk of having a child with certain medical conditions that may include mental retardation as part of the condition. When a woman is pregnant, it's important that she eats healthy foods and avoids alcohol and drugs. And after a baby is born, blood tests are done to check for certain problems. Some of these problems can cause mental retardation, but if they are treated right away, mental retardation can be prevented.

Also, it's important for kids to do what they can to prevent brain and head injuries. With babies, it's important that they are protected by car seats and that great care is used so that they don't fall from changing tables or other places. Older kids can protect themselves by wearing seat belts in the car and wearing helmets while riding bikes, in-line skating, or using scooters.

What's It Like to Have Mental Retardation?

Just like all kids, those with mental retardation want to develop their skills to the best of their abilities. They need to go to school, play, and feel support from loving families and good friends. What can you do? If you know someone who has mental retardation, be a friend!

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Cleft Lip and Palate

Open your mouth!. Do you see the seam on the roof of your mouth? Sometimes you can feel it with your finger or your tongue. That's where your palate grew together in the middle. You can see that the palate goes from behind your front teeth all the way to the back of your mouth.

The word cleft means a gap or split between two things. A cleft lip is a split in the upper lip. This can happen on one or two sides of the lip, creating a wider opening into the nose. A cleft palate is a split in the roof of the mouth. This leaves a hole between the nose and the mouth. Sometimes a cleft lip and cleft palate occur together in the same person. Cleft lip and cleft palate are very common and occur in about 1 or 2 of every 1,000 babies born in the United States each year.

How Does a Kid Get Cleft Lip or Cleft Palate?

Cleft lip and cleft palate are birth defects, which means they happen while a baby is developing inside his or her mother. Normally, the mouth and nose of a baby develop between the first 6 and 12 weeks of growth. In some babies, parts of the lips and roof of the mouth don't grow together. Because the lips and the palate develop separately, it's possible to have cleft lip, cleft palate, or both.

We don't always know why a particular baby has cleft lip or cleft palate. Sometimes the condition runs in families. This means that a person with cleft lip or cleft palate may have a relative with the same thing. Other times, cleft palate is part of a syndrome, meaning there are birth defects in other body parts, too. Sometimes a cleft may be related to what happened during a mother's pregnancy, like a medication she may have taken, a lack of certain vitamins, or exposure to cigarette smoke. Most of the time, however, the cause of the cleft is unknown and could not be prevented.

What Happens to a Kid With Cleft Lip or Cleft Palate?

A baby with cleft lip or cleft palate may have problems eating. This can be a big problem, especially for a newborn baby. Normally, the palate prevents food and liquids from going up your nose. When you swallow, the tongue presses up against the palate and pushes the chewed food to the back of your throat. Try swallowing slowly and you can feel your tongue touch your palate.

Have you ever laughed so hard while drinking milk that it came out of your nose? Because there is a hole between the nose and mouth in babies with a cleft palate, they have the same problem, but it can happen every time they drink and not just when they laugh. Fortunately, there are feeding specialists and special baby bottles that can help.

Kids with cleft palate can have hearing loss. This may be caused by fluid in the middle ear. Therefore, children with cleft palate should have their ears and hearing checked about once or twice a year. They usually need very small special tubes placed in their eardrums to help them hear better.

Dental problems involving the upper gum or palate often happen with clefts. These problems can include small teeth, missing teeth, extra teeth, or crooked teeth. All kids need to see the dentist regularly and keep their teeth clean. A kid with clefts might need to go to the orthodontist for braces, too, to make sure his or her teeth grow in straight.

Kids with cleft lip or cleft palate may also have problems with speech. When you talk, the muscles of your soft palate help to keep air from blowing out of your nose instead of your mouth. Kids with cleft palate find their soft palate sometimes does not move well and lets too much air leak out the nose while speaking. That gives them problems with certain sounds and it makes them sound like they are speaking partly through their nose.

What Do Doctors Do?

Treating cleft lip or cleft palate takes a team of different types of specialists (in this case, people who are experts in helping kids with clefts). This team includes a plastic surgeon, a speech-language pathologist, an orthodontist, an otolaryngologist (a doctor trained in ear, nose, and throat problems — say oh-toh-lar-un-gah-lo-jist), an oral surgeon, a dentist, a geneticist, a social worker, a psychologist, an audiologist, and other health care specialists. Because there are so many different people for a kid to see, the team has a coordinator who works with the parents to help organize everything.

• Cleft lip is usually repaired by the time a baby is 3 to 6 months old. During surgery on the cleft lip, the doctor closes the gap in the lip and corrects the nostril. A person who has cleft lip repaired as an infant will have a scar on the lip under the nose.
• Cleft palate is usually repaired at age 9 to 12 months. During surgery on cleft palate, doctors close the hole between the roof of the mouth and the nose and reconnect the muscles in the soft palate.

After surgery, a kid will get regular hearing tests to check for hearing problems caused by fluid building up in the ears. Because of this fluid build-up, some kids get special tubes put in their ears to help them hear better. Kids may also need speech therapy when they start talking. Some kids with cleft palate might even need another operation on their palate to improve their speech.

Lots of kids, including those with cleft lip or palate, need orthodontics or braces after their permanent teeth grow in. Braces can straighten crooked teeth. Kids with cleft lip and cleft palate may also need a bone graft when they're about 8 years old. In a bone graft, a surgeon takes some bone, usually from the person's hip, and uses it to fill in the gap in the upper gum area. This allows the upper gum area to hold the permanent teeth better and keep the upper jaw steady.

As kids with cleft lip or cleft palate grow older and become teenagers, some may want to have their scars made less noticeable, their jaws aligned, or their noses straightened. Operations to do these can improve a person's bite, speech and breathing, and appearance.

Living With Cleft Lip or Cleft Palate

Some kids with severe cleft lip or cleft palate have a flattened nose or small jaw. Other kids with just cleft palate may look just like everyone else. Either way, kids with cleft lip or cleft palate want to be treated like everyone else. A person might have cleft lip, but also have beautiful eyes, a great sense of humor, or a terrific slam-dunk!

If you have cleft lip or cleft palate, there may be some things about your face you can't change and some that you can. Doctors can do amazing things to make you feel good about the way you look on the outside, and you can do things to make yourself feel good about the way you are on the inside.

Even with the many successful operations and treatment for cleft lip and palate, some kids have a hard time growing up with this condition. They may have classmates who tease or bully them or who are just curious and want to know more about it. In either case, kids with clefts can get help handling these situations by speaking with their parents, teachers, or counselors, and of course, any member of their cleft palate team. The good news is that most kids with cleft lip or cleft palate grow up to be healthy, happy adults!

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Hives

After eating some big, red strawberries, you decide to walk to your friend's house. Just as you're turning the corner, you notice reddish bumps and patches on your arms and chest. What are these itchy welts or blotches on your skin? Should you turn around and head home?

What Are Hives?

Hives are pink or red bumps or slightly raised patches of skin. Sometimes, they have a pale center. Hives usually itch, but they also can burn or sting.

Hives can occur anywhere on the body and vary in size and shape. They can be small like a mosquito bite or big like a dinner plate. Hives also might look like rings or groups of rings joined together. Hives can appear in clusters and might change locations in a matter of hours. A bunch of hives might be on a person's face, then those might go away. Later some more may appear on a person's arms.

Hives are common - between 10% and 25% of people get them at least once in their lives. They are usually harmless, though they may occasionally be a sign of a serious allergic reaction. (So, yes, you should go home and tell your mom or dad.)

The medical term for hives is urticaria (say: ur-tuh-kar-ee-uh). When a person is exposed to something that can trigger hives, certain cells in the body release histamine (say: his-tuh-meen) and other substances. This causes fluid to leak from the small blood vessels under the skin. When this fluid collects under the skin, it forms the blotches, which we call hives.

Why Do I Get Hives?

People can get hives for lots of different reasons. Often, the cause is not known. One common reason for getting hives is an allergic reaction. Some common allergic triggers are certain foods (like milk, shellfish, berries, and nuts), medications (such as antibiotics), and insect stings or bites. Other causes of hives are not related to allergies and these can include:

• exposure to the cold (like diving into a cold pool)
• exercise
• sun exposure
• nervousness or stress
• infections caused by viruses

No matter what the cause, a case of hives can last for a few minutes, a few hours, or even days.

What Will the Doctor Do?

Doctors usually can diagnose hives just by looking at you and hearing your story about what happened. The doctor can try to help figure out what might be causing your hives, although often the cause will remain a mystery. If you're getting hives a lot, or your reaction was serious, your doctor might send you to another doctor who specializes in allergies.

Sometimes, doctors will suggest you take a type of medication called an antihistamine to relieve the itchiness. In many cases, hives clear up on their own without any medication or doctor visits.

Less often, hives can be a sign of a more serious allergic reaction that can affect breathing and other body functions. In these cases, the person needs immediate medical care. Some people who know they have serious allergies carry a special medicine to use in an emergency. This medicine, called epinephrine, is given by a shot. Ordinarily, a nurse gives you a shot, but because some allergic reactions can happen really fast, many adults and kids carry this emergency shot with them and know how to use it, just in case they ever need it in a hurry.

Can I Prevent Hives?

Yes and no. The answer is "yes" if you know what causes your hives - the strawberries at the start of this article, for example. If you know they cause you trouble, you can just avoid them. If you get hives when you're nervous, relaxation breathing exercises may help. But if you don't know why you get hives, it's tough to prevent them.

Some kids get hives when they have a virus, such as a bad cold or a stomach flu. Other than washing your hands regularly, there's not much you can do to avoid getting sick occasionally. The good news is that hives usually aren't serious and you might even grow out of them.

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Legs and Feet Problems

Where would you be without your legs and feet? They do a lot to get you where you need to go. But sometimes, kids have problems with these important body parts. Their legs and feet might look different or might not work exactly the way they should. The good news is that these problems usually aren't serious. They either go away on their own or the kid learns to handle them by using stuff like special shoe inserts.

Pigeon Toes

Pigeon toes, or inwardly turning toes, is a common foot condition in kids. It occurs when the front of the foot is turned inward, facing the other foot. Boys and girls both experience pigeon toes. Most children's feet straighten naturally without any medical treatment.

Bowlegs

When a person stands with their feet and ankles together but the knees remain widely apart, we call them bowlegged. Many babies are born bowlegged because their legs were folded tightly across their bellies while they were growing inside their mom. Bowlegs usually straighten once babies with this condition start to walk and their legs bear weight. By age 3, most kids grow out of the condition.

Knock-Knees

Knock-knees is a condition where the legs curve in at the knees so much that the ankles are separated. Lots of kids become knock-kneed between the ages of 3 and 5. But around age 6, the body begins to straighten naturally, and within a few years most kids can stand with their knees and ankles touching at the same time.

Flatfeet

Stand sideways in front of a mirror. Rise up on your toes. Can you see the arch (curve) in the bottom your feet? Most of us have some sort of arch on the bottom of the feet between our toes and heel. Someone who doesn't have this curve might have flexible flatfeet. That means more of the person's foot surface is in contact with the ground. In a typical foot, the arch part wouldn't touch the ground.

Most babies are born with almost no arch in their feet. Within 2 to 3 years, after kids have been walking for a while, the arch develops. Wearing the right kind of shoes - ones that are flexible, not stiff - helps kids' feet develop the way they should.

About 1 in 7 kids never develop a full arch. Very rarely, this requires surgery. Some kids might wear arch supports if their feet hurt. But most of the time, flatfeet don't cause pain or problems. In other words, if your feet are flat, they're fine!

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Genes

Genes (say: jeenz), that's what they're talking about. Genes are the things that determine physical traits — how we look — and lots of other stuff about us. They carry information that helps make you who you are: curly or straight hair, long or short legs, even how you might smile or laugh, are all passed through generations of your family in genes. Keep reading to learn more about genes and how they work.

What Is a Gene?

Each cell in the human body contains about 25,000 to 35,000 genes, which carry information that determines your traits (say: trates). Traits are characteristics you inherit from your parents; this means your parents pass some of their characteristics on to you through genes. For example, if both of your parents have green eyes, you might inherit the trait of green eyes from them. Or if your mom has freckles, you might inherit that trait and wind up with a freckled face. And genes aren't just in humans — all animals and plants have genes, too.

Genes hang out all lined up on thread-like things called chromosomes (say: kro-moh-somes). Chromosomes come in pairs, and there are hundreds, sometimes thousands, of genes in one chromosome. The chromosomes and genes are made of DNA, which is short for deoxyribonucleic (say: dee-ox-see-ri-bo-nyoo-clay-ik) acid.

Chromosomes are found inside cells, the very small units that make up all living things. A cell is so tiny that you can only see it through the lens of a strong microscope, and there are billions of cells in your body. Most cells have one nucleus (say: noo-clee-us). The nucleus, which is sort of egg-shaped, is like the brain of the cell. It tells every part of the cell what to do. How does the nucleus know so much? It contains our chromosomes and genes. As tiny as it is, the nucleus has more information in it than the biggest dictionary you've ever seen.

In humans, a cell nucleus contains 46 individual chromosomes or 23 pairs of chromosomes (chromosomes come in pairs, remember? 23 X 2 = 46). Half of these chromosomes come from one parent and half come from the other parent. But not every living thing has 46 chromosomes inside of its cells. For instance, a fruit fly cell only has four chromosomes!

How Do Genes Work?

Each gene has a special job to do. It carries blueprints — the instructions — for making proteins (say: pro-teens) in the cell. Proteins are the building blocks for everything in your body. Bones and teeth, hair and earlobes, muscles and blood, all are made up of proteins (as well as other stuff). Those proteins help our bodies grow, work properly, and stay healthy. Scientists today estimate that each gene in the body may make as many as 10 different proteins. That's over 300,000 proteins!

Like chromosomes, genes come in pairs. Each of your biological parents has two copies of each of their genes, and each parent passes along just one copy to make up the genes you have. Genes that are passed on to you determine many of your traits, such as your hair color and skin color.

Maybe Nancy's mother has one gene for brown hair and one for red hair, and she passed the red hair gene on to Nancy. If her father has two genes for red hair, that could explain her red hair. Nancy ended up with two genes for red hair, one from each of her parents.

You can see genes at work if you think about all the breeds of dogs there are. They all have the genes that make them dogs instead of cats, fish, or people. But those same genes that make a dog a dog also make different dog traits. So some breeds are small and others are big. Some have long fur and others have short fur. Dalmatians have genes for white fur and black spots, and toy poodles have genes that make them small with curly fur. You get the idea!

When There Are Problems With Genes

Scientists are very busy studying genes. What do the proteins that each gene makes actually do in the body? What illnesses are caused by genes that don't work right? Researchers think genes that have changed in some way, also known as altered (or mutated) genes, may be partly to blame for lung problems, cancer, and many other illnesses.

Take the gene that helps the body make hemoglobin (say: hee-muh-glow-bin), for example. Hemoglobin is an important protein that is needed for red blood cells to carry oxygen throughout the body. If parents pass on altered hemoglobin genes to their child, the child may only be able to make a type of hemoglobin that doesn't work properly. This can cause a condition known as anemia (say: uh-nee-mee-uh), a condition in which a person has fewer healthy red blood cells.

Anemias that are inherited can sometimes be serious enough to require long-term medical care. Sickle cell anemia is one kind of anemia that is passed on through genes from parents to children.

Cystic fibrosis (say: sis-tick fi-bro-sus), or CF, is another illness that some kids inherit. Parents with the CF gene can pass it on to their kids. People who have CF often have trouble breathing because their bodies make a lot of mucus (say: myoo-kus) — the slimy stuff that comes out of your nose when you blow — that gets stuck in the lungs. They will need treatment throughout their lives to keep their lungs as healthy as possible.

What Is Gene Therapy?

Gene therapy uses the technology of genetic engineering to cure or treat a disease caused by a gene that has changed in some way. This is a new kind of medicine, and scientists are still doing experiments to see if it works. One method they are trying is replacing sick genes with healthy ones. Gene therapy trials — where the research is tested on people — and other research may lead to new ways to treat or even prevent many diseases.

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