Dyskeratosis Congenita

My three children were all born with a genetic disease called Dyskeratosis Congenita.  It is a rare maternally inherited disease of the telomeres, causing numerous problems.  It is characterized by insufficient function of the pancreas which causes malabsorption of vital nutrients and vitamins to take place.  Bone marrow failure is also a common characteristic of this syndrome. It also affects just about every other organ and cell in the body.


In 1999, there were 92 cases confirmed in the world.  Since then, the number has risen slightly but the bottom line is, this is an orphan disease.  Extremely rare.

Telomere's are located at the ends of the chromosomes.  They protect the chromosome from getting damaged.  In DC, the telomere's get shorter and shorter.  This means, the chromosome is left unprotected and damage begins.  This process, takes on the look of organ failure and a high percentage of cancers.

There is no cure for DC.  Early screening and treatment for cancer is the best case scenario and most DC patients require a bone marrow transplant before age 30.

My children have a mutation in the promoter region of the gene, the area that tells the gene what it is suppose to be doing.  There has only been one other person worldwide with this mutation so we truly are pioneers in this journey.

Come along...I don't promise that it will always be filled with good, happy thoughts but we are definitely learning a lot!