What Is Dyskeratosis Congenita?
It’s is a rare bone marrow failure blood disease. It is a genetic disease, which means it is usually inherited, or passed on in a family. DC can affect many different parts of your child’s body. Most patients that are diagnosed with Dyskeratosis Congenita usually need a bone marrow transplant.
Over time, many people with dyskeratosis congenita develop bone marrow failure. Bone marrow failure means the marrow inside the bones doesn’t make enough of one or more kinds of blood cells the body needs. People with dyskeratosis congenita may have low levels of:
-White blood cells, which fight infection (a low level of white blood cells causes neutropenia)
-Red blood cells, which carry oxygen (a low level of red blood cells causes anemia)
-Platelets, which help blood to clot (a low level of platelets causes thrombocytopenia)
-All three kinds of blood cells (low levels of all three causes aplastic anemia)
Dyskeratosis congenita also is linked to other health conditions, including problems with:
Skin, nails and hair
Researchers are learning more about dyskeratosis congenita very quickly. For that reason, information you see about the condition in other places may be out of date. It is important to talk with your child’s healthcare team when you have questions.
Dyskeratosis Congenita in Children is caused by a change (mutation) in genes. Sometimes, this change happens in a child with DC without being passed on by their parents. Most often, though, the genes that are not working correctly are passed to children by their parents. Some parents of children with DC may have the disease but might not have obvious signs of it.
Babies are born with dyskeratosis congenita. But symptoms of the disease may not show up for years, and sometimes even for decades. Some babies are diagnosed with dyskeratosis congenita soon after they are born. Other people do not get a diagnosis until they are adults. Most often, doctors find the disorder when a person is between 10 and 30 years old.
Doctors do not know exactly how common dyskeratosis congenita is, but they believe it’s a rare blood disease.
Our mission is at AAOMF.org to bring global awareness about this life-threatening blood disease, Dyskeratosis Congenita.
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