The majority of infants that are screened within the first forty-eight hours of their life probably are not tested for Severe Combined Immune Deficiency – SCID. This is often referred to as "bubble boy disease" and is a major immunodeficiency disease. Babies who are born with the condition have little or no immune system because they do not have T-lymphocytes. These are the white blood cells which help children to fight infections caused by fungi, bacteria and viruses. Without a fully functioning immune system every illness, even a common cold, can have devastating consequences.
When babies with SCID are born they do not typically display any symptoms but it is essential that they receive early treatment to provide them with the greatest chance of survival. This is most likely to be by bone marrow transplant from a healthy donor. A baby having a bone marrow transplant during the first 3 months months of its life has up to 94 per cent chance of survival. After this age the survival rate drops to lower than seventy per cent. Without treatment the disease is fatal which is why the medical community considers SCID to be a pediatric emergency.
There is now a new screening test for SCID. Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced in May 2010 that SCID would have added to the existing 29 disorders already already classified as a core disease on the universal screening panel for every newborn baby through the United States. The Department of Health and Human Services recommends that every state provides compulsory newborn screening for all of the core conditions. Unfortunately, each state can decide if and when they instigate screening for the recommended disorders.
The Immune Deficiency Foundation (IDF) SCID Initiative was created to provide awareness and education of the condition. They are currently leading a national campaign to ensure that SCID is included in all newborn screening through the fifty states. It is absolutely essential that all babies must be screened for SCID as there is now testing and successful treatment available.
The importance of newborn screening for SCID is being recognized by more states which are now realizing the value of the tests and that early implementation can actually save the lives of babies.
The States and Territories which are currently screening for SCID include:
Navajo Nation in Arizona and New Mexico
Pennsylvania – in select hospitals
Texas – limited pilot program in select hospitals
The Immune Deficiency Council (IDC) has started the IDC SCID Newborn Screening Blog giving up to date information regarding the progress being made, and also provides news to the general public about how new conditions are added to the screening panel. It also gives helpful advice for anyone wanting to support their efforts.