Severe combined immunodeficiency diseases (SCID) is a group of very rare, life-threatening diseases that a child is born with. The diseases cause the child to have very little or no immune system. As a result, the child's body is unable to fight off infections that are everywhere. This disease process is also known as the "boy in the bubble" because living in the normal environment can prove fatal to these children. Approximately one in 1,000,000 children are born with this inherited disease.

Simply put, gene therapy for SCID involves taking the patients' own blood and putting the normal gene into the blood cells. The patient is then given a blood transfusion with their own blood that has the normal gene inserted, which then integrates into the immune system, which lessens the symptoms of the disorder. The process is very complicated and not successful in every patient. There is a great deal of research into this promising area of medicine with the hope that other diseases can be treated in this manner.

Patients with Gaucher disease have abnormal accumulations of a compound called glucocerebroside due to the deficiency of the enzyme glucocerebrosidase. This accumulation causes cells to form what is known as "Gaucher cells" which displace healthy cells in bone marrow, cause an enlargement of the liver and spleen, organ dysfunction, and deterioration of the skeleton. There are three different types of Gaucher disease which range in terms of severity and age of onset. An enzyme assay can confirm the diagnosis.

Enzyme replacement therapy (ERT) has been used in over 1000 patients for the treatment of Gaucher disease -- to reverse the symptoms and improve the quality of life. It must be taken throughout the life of the individual, otherwise the health problems from the gene defect return. Patients must be under the care of a physician to monitor the therapy for any adverse reactions and adjust dosages.

Consult your physician for more information.