Health and Fitness

Treacher Collins Syndrome Overview Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear. Another name for Treacher Collins syndrome is mandibulofacial dysostosis. Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins syndrome have surgery to correct facial differences like cleft palate. Some may need treatment for hearing loss, as well. With treatment and routine healthcare follow-ups, children with Treacher Collins syndrome can live long, healthy lives. Early intervention is key, though. Without treatment, children with Treacher Collins syndrome may develop complications that require lifelong medical care. Treacher Collins syndrome affects approximately 1 in every 50,000 children w...

Sleep Paralysis Overview Sleep paralysis is when you can’t move any part of your body right before falling asleep or as you wake up. It happens when your body is in between stages of sleep and wakefulness. An episode is temporary and only lasts for a few seconds to a couple of minutes. It’s a type of parasomnia. You’ll likely feel scared or anxious during a sleep paralysis episode. When it ends, you may feel confused because you’ll regain movement of your body as if nothing happened. Even one sleep paralysis episode can make you nervous about going to sleep. This can affect how you feel and function during the daytime. There’s no treatment available to stop a sleep paralysis episode when you’re in the middle of one, but treatment is available to reduce how often episodes affect you. Symptoms You may experience the following symptoms during a sleep paralysis episode either right before falling asleep or as you’re waking up: You can’t move your arms or legs. You can’t speak. Sensations o...

Tay-Sachs Disease Overview Tay-Sachs disease is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord. Symptoms like developmental delays, hearing and vision loss usually begin around 6 months of age. It’s a progressive disease, meaning it gets worse over time. It leads to early death. There’s no cure, but treatment supports your child and keeps them comfortable. What are the types of Tay-Sachs disease? There are three types of Tay-Sachs disease. The type depends on when symptoms develop: Classic infantile: This is the most common form of Tay-Sachs disease. Children develop symptoms around 6 months of age. Juvenile: Children develop symptoms between the age of 5 and their teenage years. This form is very rare. Late-onset: Symptoms can appear during the late teen years or early adulthood. They can also develop after a person reaches 30 years old. This type may not affect your life expectancy. It’s also very ra...

Orchiopexy is surgery to treat undescended testicles. A surgeon performs it when your baby is between six and 24 months old if their testicles haven’t moved into their scrotum yet. It also treats testicular torsion (where your testicle twists and cuts off the blood supply). Overview What is an orchiopexy? An orchiopexy (OR-kee-oh-peck-see) is surgery to move undescended testicles or to treat testicular torsion. To treat undescended testicles, a surgeon moves them from inside your child’s belly (abdomen) or groin area and attaches them inside the scrotum (the pouch of skin below your penis). To fix testicular torsion, your provider will untwist your testicle and secure it to the inside of your scrotum. The surgeon may also need to repair hernias or put in an artificial testicle (testicular prosthesis) during surgery. Other names for an orchiopexy are orchidopexy (OR-keh-doh-peck-see) and undescended testicle repair surgery. What conditions does an orchiopexy treat? An orchiopexy correct...

Sjögren’s syndrome happens when your immune system damages the glands that produce and control moisture in your body. The most common symptom is chronic, unusual dryness in your eyes, mouth or vagina. A healthcare provider will help you find treatments that manage the symptoms and how much they affect your daily routine. What Is Sjögren’s Syndrome? Sjögren’s syndrome is an autoimmune disease that makes your glands produce less moisture than they should. It causes chronic (long-term) dryness throughout your body, especially in your eyes and mouth. Sjögren’s syndrome is pronounced “SHOW-gren’s syndrome.” Some healthcare providers call it Sjögren’s disease. If you have Sjögren’s syndrome, your immune system damages glands in your body that produce and control moisture, including in your: Tear system Salivary glands Nose Throat Digestive system Vagina Visit a healthcare provider if you’re experiencing new dryness in your eyes, mouth or anywhere else in your body — especially if you’re also...

Smith-Magenis Syndrome Overview Smith-Magenis syndrome is a developmental condition that affects several parts of your child’s body. Some of the main symptoms include abnormal cognitive development (intellectual disability), unique facial features, behavioral concerns and difficulty sleeping. Smith-Magenis syndrome occurs because a small piece of a chromosome, carrying an important gene, is deleted from your child’s DNA during embryonic development. Smith-Magenis syndrome can affect anyone, as the genetic change occurs at the time of conception when the egg and sperm meet. There’s usually no history of the condition in your biological family line. This is known as a spontaneous or “de novo” mutation. In rare cases, your child may inherit the condition from a biological parent who doesn’t have symptoms of the condition but has a genetic change in some of their sex cells but not all of their cells. This type of inheritance is called germline mosaicism. Symptoms Symptoms of Smith-Magenis ...