Section: Parents - posted in 2019

  • Sanfilippo Syndrome

    Sanfilippo Syndrome What Is Sanfilippo Syndrome? Sanfilippo (san-fuh-LEE-po) syndrome is a rare genetic metabolism disorder. A change in a single gene makes a child's body unable to break down certain carbohydrates (sugars). This leads to serious problems in the brain and nervous system. There is no cure yet for Sanfilippo syndrome. But doctors and researchers are working hard to find better treatments for it. What ...
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  • Raynaud's Syndrome

    Raynaud's Syndrome What Is Raynaud's Syndrome? Raynaud's syndrome is a condition that makes a person's fingers or toes temporarily feel cold, numb, tingly, or painful. When a child has a Raynaud's (ray-NOZE) episode, blood vessels become narrow, so less blood gets to the affected area. What Are the Signs & Symptoms of Raynaud's Syndrome? Raynaud's syndrome usually affects fingers and toes. Less often, episodes ...
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  • Testicular Cancer

    Testicular Cancer What Is Testicular Cancer? Cancer is when cells in part of the body grow out of control. They crowd out normal, healthy cells, so the body can't work as it should. Cancer that affects a testicle is called testicular (tes-TIK-yuh-lur) cancer. It's uncommon in boys. Most cases are in young and middle-aged men. Testicular cancer responds well to treatment, especially when it's found early. What Are ...
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  • Hypospadias

    Hypospadias What Is Hypospadias? Hypospadias (hye-peh-SPAY-dee-iss) is when the urethra — the tube that drains pee (urine) from the bladder to outside the body — opens in a different place instead of at the tip of the penis. The opening may be on the underside or at the base of the penis. What Are the Signs & Symptoms of Hypospadias? A boy with hypospadias has one or more of these signs: The ...
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  • Bronchitis

    Bronchitis What Is Bronchitis? Bronchitis is when the lining of the large breathing tubes get inflamed (swollen and red). These airways, called the bronchial tubes, connect the windpipe to the lungs. Their delicate lining makes mucus, and covers and protects the organs and tissues involved in breathing. Bronchitis (brong-KYE-tis) can: Make it hard for air to pass in and out of the lungs. Irritate the tissues ...
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  • Sickle Cell Trait

    Sickle Cell Trait What Is Sickle Cell Trait? If someone inherits one sickle cell gene, they have sickle cell trait. They usually do not develop symptoms of sickle cell disease. If someone inherits two sickle cell genes, they have sickle cell disease. People with sickle cell disease need lifelong medical care. Sickle cell disease is an inherited blood disorder in which red blood cells are not round, but curved. ...
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  • Omphalocele

    Omphalocele What Is an Omphalocele? A baby born with an omphalocele has an opening where the umbilical cord goes into the belly. A membrane or thin sac that covers the internal organs bulges through the opening. An omphalocele (ahm-FAL-uh-seel) happens because the belly wall doesn't close as it should. Some omphaloceles close on their own, but many need treatment, including surgery. Some kids born with ...
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  • Your Child's Handwriting

    Your Child's Handwriting Before you read this article, quickly write the answer to this question: What is your favorite color? This might've seemed like an automatic and mindless task, but your body and mind had to work closely together to complete a series of steps in the right order. You had to pick up a pen or pencil, hold it steady, remember what color you wanted to use as an answer, think about what letters appear in ...
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  • Sturge-Weber Syndrome

    Sturge-Weber Syndrome What Is Sturge-Weber Syndrome? Sturge-Weber syndrome is a problem with the way blood vessels grow in the skin, eyes, and brain. Blood vessels grow too much and form growths called angiomas : An angioma (an-jee-OH-muh) in the skin is a birthmark called a port-wine stain. Babies with Sturge-Weber are born with port-wine birthmarks on their face or scalp. Angiomas that form in the brain can affect ...
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  • Phenylketonuria (PKU)

    Phenylketonuria (PKU) What Is Phenylketonuria (PKU)? Phenylketonuria (fen-ul-kee-tuh-NUR-ee-uh), or PKU, is a metabolic disorder that some babies are born with. It's caused by a defect in the enzyme that breaks down the amino acid phenylalanine. Newborn babies in the United States have their blood tested for PKU as part of newborn screening. This lets doctors start treatment, usually a special diet, right away to help ...
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