What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in
the electrolyte transport system causing cells to absorb too much sodium and water. CF is characterized
by problems with the glands that make sweat and mucus. Symptoms start in childhood. On average,
people with CF live into their mid to late 30.

CF affects various organ systems in children and young adults, including the following:

Respiratory system

Digestive system

Reproductive system

Some people can carry the CF gene without being affected by the disease. They usually do not know that
they are carriers.

Muscular Dystrophy

Muscular dystrophy (MD) is a disorder that slowly weakens muscles. Over time, a child’s muscles break
down. They are replaced with fatty tissue. MD can make movements like walking and standing up hard
to do. It may even cause deformities in the joints.

MD is a genetic disorder. That means it is inherited. Children with a family history of the condition are
more likely to have it.

MD is divided into 9 types. Some types don’t develop until a child becomes an adult. Others cause
symptoms early in life. Children are usually diagnosed with the disorder between 3 and 6 years old. The
most common types to affect children are called Duchenne muscular dystrophy and Becker muscular
dystrophy.

Hemophilia in Children

Hemophilia is an inherited bleeding disorder. Children with hemophilia can’t stop bleeding because they
don’t have enough clotting factor in their blood. Clotting factors are needed for blood to clot. Blood clots
to prevent excessive bleeding.

There are many blood clotting factors involved in the forming of clots to stop bleeding. Two common
factors that affect blood clotting are factor VIII and factor IX.

How severe your child’s hemophilia is depends on the level of blood clotting factors in his or her blood.

Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a genetic condition marked by the growth of numerous cysts (fluid-
filled sacs) in the kidneys. The cysts become larger and the kidneys enlarge along with them. Slowly, the
kidneys lose their ability to filter waste from the blood, which leads to progressive loss of kidney
function and eventually to kidney failure. Some 600,000 people in the United States have PKD. PKD can
also cause cysts in other organs, such as the liver.

There are two inherited forms of PKD:

Autosomal dominant (or adult) PKD is the most common form. Symptoms usually develop between the
ages of 30 and 40, but they can begin during childhood. In this form of the disease, if one of the parents
carries the disease gene, the child has a 50/50 chance of inheriting the disease.

Autosomal recessive PKD is a rare form. Symptoms begin in childhood and even in utero (before birth).

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder. It is marked by flawed hemoglobin. That’s the protein
in red blood cells that carries oxygen to the tissues of the body. So, sickle cell disease interferes with the
delivery of oxygen to the tissues.

Red blood cells with normal hemoglobin are smooth, disk-shaped, and flexible, like doughnuts without
holes. They can move through the blood vessels easily. Cells with sickle cell hemoglobin are stiff and
sticky. When they lose their oxygen, they form into the shape of a sickle or crescent, like the letter C.
These cells stick together and can’t easily move through the blood vessels. This can block small blood
vessels and the movement of healthy, normal oxygen-carrying blood. The blockage can cause pain.

Normal red blood cells can live up to 120 days. But, sickle cells only live for about 10 to 20 days. Also,
sickle cells may be destroyed by the spleen because of their shape and stiffness. The spleen helps filter
the blood of infections. Sickled cells get stuck in this filter and die. With less healthy red blood
cells circulating in the body, you can become chronically anemic. The sickled cells also damage the
spleen. This puts you are at greater at risk for infections.

Thalassemias

halassemias are inherited disorders characterized by abnormal production of hemoglobin, a protein in

red blood cells that carries oxygen. They result in low hemoglobin production and destruction of red
blood cells. These diseases usually occur only in people who have at least two abnormal genes. Carriers
(people with only one abnormal gene) usually do not have any problems, unless they carry other
abnormal genes that interact with the thalassemia gene.

Listed in the directory below, you will find additional information regarding two different types of
thalassemia, for which we have provided a brief overview.
Tay-Sachs disease 

is a rare, inherited neurodegenerative disease. People with Tay-Sachs disease do not have enough of

an enzyme called beta-hexosaminidase A.  The less enzyme a person has, the more severe the disease
and the earlier that symptoms appear. There are 3 forms of Tay-Sachs disease, distinguished by the
general age of onset

Infantile - the most common severe form, with symptoms appearing in the first few months of life.
Symptoms include a loss of skills learned (regression), seizures, and loss of muscle and mental functions.
Children with this form do not survive past early childhood.

Juvenile - a form with a range of severity, with symptoms appearing any time during childhood (but
usually between ages 2 and 5). Symptoms include behavior problems, gradual loss of skills, frequent
respiratory infections, and seizures. People with this form typically do not survive past their teenage
years.

Late onset/adult - the least severe form, with symptoms appearing in late childhood to adulthood.
Symptoms may include clumsiness, muscle weakness, psychiatric disorders, and gradual loss of skills,
often leading to the need for mobility assistance. Intellect and behavior become impaired in some cases.
The lifespan varies from shortened to unaffected.

Tay-Sachs disease is caused by mutations in the HEXA gene and inheritance is autosomal recessive.

The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is
needed to break down a substance called GM2 ganglioside. When the enzyme is not functional or not
made, GM2 ganglioside builds up in the nerve cells (neurons) of the brain and spinal cord, causing the
symptoms of the disease