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Usher Syndrome

Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. It is the most common condition that affects both hearing and vision.

There are three types of Usher syndrome:

People with type I are deaf from birth and have severe balance

Tuberous Sclerosis

Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include:
Skin problems, such as light patches and thickened skin
Seizures
Behavior problems
Intellectual disabilities
Kidney problems

Some people have signs of tuberous sclerosis at birth. In others it can take time

Tourette Syndrome

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words.

Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as:
Attention

Tay-Sachs Disease

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental

Spinal Muscular Atrophy

What is spinal muscular atrophy (SMA)?
Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in your arms, legs, face, chest, throat, and tongue.
As the motor

Spina Bifida

Spina bifida is a neural tube defect – a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn’t close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida.

Sickle Cell Disease

What is sickle cell disease (SCD)?
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood

Rett Syndrome

Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It’s related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:
Loss

Pregnancy and Medicines

Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements.

Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby

Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.

Babies with PWS are usually floppy, with