Severe Combined Immunodeficiency (SCID, pronounced “skid”)
SCID or Severe Combine Immune Deficiency is the most severe of the Primary Immune Deficiency diseases. An inherited genetic disorder, the defining characteristic of SCID is the absence of T cells and, as a result, lack of B cell function as well. Unless these defects are corrected, the child will typically die of opportunistic infections before their first or second birthday. Children affected by SCID can also become ill from live viruses present in some vaccines. These vaccines (such as Chickenpox, Measles, Rotavirus, oral polio and BCG, etc.) contain viruses and bacteria that are weakened and don’t harm children with a healthy immune system. In patients with SCID however, these viruses and bacteria may cause severe, life-threatening infections and complications.
SCID is comprised of several different genetic variants which can affect both boys and girls, and more are being identified every year. The most common form is X-Linked SCID or XSCID and affects only boys. In 1971 a boy born with XSCID was identified at birth and because his doctors did not have an available treatment, they placed him inside a sterile “bubble” in order to keep him healthy while they researched a treatment for him. Because of his “bubbles” he became known to the world as the Bubble Boy and consequently SCID became known worldwide as The Bubble Boy Disease.
Effective treatments such as hematopoietic stem cell transplantation have increased the survivability of this disease which at one time was considered a fatal illness. The successful implementation of SCID Newborn Screening in the United States has allowed earlier diagnosis for most infants. Earlier diagnosis has significantly increased the number of surviving patients and consequently increased the number of families who need information and support. Information regarding new and innovative treatment options, many of which are currently only available through clinical trials, is of critical importance to families with a SCID patient. They turn to SCID Angels as a trusted source of current information and support when researching the options available to treat their child.