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Tay-Sachs Disease

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

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 syndrome

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

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 ...

Empty Nest Syndrome

Empty Nest Syndrome Overview Empty nest syndrome is the complicated tangle of feelings parents experience when their children move out of the family home and begin their adult lives. It’s not a diagnosable mental health issue, but that doesn’t mean it isn’t real. All that emotional upheaval and anticipatory grief can have a big impact, from prompting a broader existential crisis to causing physical symptoms or catastrophic thinking. “Empty nest syndrome is a very common experience,” Dr. Borland reassures. “A large part of one’s identity often becomes defined by their role as a parent. And suddenly, there’s this recognition that a significant change is about to occur, that time has flown really quickly. It’s OK to feel a sense of loss and uncertainty during this period of transition.” Symptoms Again, empty nest syndrome isn’t a diagnosable psychiatric condition, but Dr. Borland says people experiencing it tend to experience some or all of the following feelings: Fear. Grief. Sadness. Gu...

Hyponatremia

Hyponatremia Overview Hyponatremia is a condition that happens when the level of sodium in the blood is lower than the typical range. Sodium is an electrolyte, and it helps regulate the amount of water that's in and around your cells. In hyponatremia, one or more factors cause the sodium in the body to be diluted. These factors can range from an underlying medical condition to drinking too much water. When this happens, the body's water levels rise, and cells begin to swell. This swelling can cause many health problems, from mild to life-threatening. Hyponatremia treatment is aimed at resolving the underlying condition. Depending on the cause of hyponatremia, you may simply need to cut back on how much you drink. In other cases of hyponatremia, you may need intravenous electrolyte solutions and medications. What are the types of hyponatremia? Types of hyponatremia include: Euvolemic hyponatremia/dilutional hyponatremia. This is when the amount of sodium in your body stays the ...