Newborns with Severe Combined Immunodeficiency (SCID)

     There are numerous tests run on newborns that can show whether a child is born with a gene mutation or a deficiency. One that hasn’t always been tested for, but has gained a lot of traction over a little more than 50 years is Severe Combined Immunodeficiency (SCID). SCID is one of the primary causes for immunodeficiency diseases caused by a collection of T-cell and humor deficiencies. Thus resulting in the inability to produce antibodies in the body. The surprising factor is that babies who are born with SCID look completely normal and healthy. Their problems begin when they contract recurrent infections that can’t be cured with normal treatments, medications, and therapies. One therapy that has proven to be effective is a bone marrow transplant, as long as the SCID is diagnosed soon after birth.

     A babies survival has better rates in a family that has a history of SCID. Dr. Rebecca Buckley says there’s a 96 percent survival rate versus a 66 percent survival rate in babies without a family history. There was one case with a boy named David Vetter also known as the “Bubble Boy.”  The doctors knew that he would need to be isolated in a sterile bubble at birth because the family had another child effected with SCID who did not survive.

     In order to study the best ways to diagnose babies affected with SCID as early as possible, the National Institute of Allergy and Infectious Diseases founded the Primary Immunodeficiency Consortium. They focused their research on techniques that will improve newborn screenings. Researchers took dried blood and tried testing it with plasma and cellular proteins but were unsuccessful. Dr. Jennifer Puck and her researchers discovered that by using a polymerase chain reaction they were able to successfully isolate the DNA from the dried blood spots and accurately diagnose babies with SCID.

     I work at a plasma donation center called Grifols Biomat. After working there for a year and half and taking a couple biology courses, I’ve taken up an interest in the good that my work does. There is a very high need for source plasma to research and produce therapies to treat people with rare, chronic diseases or disorders. Some of those diseases or disorders are primary immunodeficiency, hemophilia, and genetic lung diseases. Source plasma is also used to treat people who have been through trauma or shock or are burn victims. Although SCID doesn’t have anything to do with source plasma, source plasma was used in the researching of therapies for babies affected by the disorder. I get to see thousands and thousands of mL’s of source plasma drawn from peoples bodies everyday. I think it’s pretty amazing that treatments and medications can be produced to help those in need. And I think that it’s even more amazing that we are using the research to further help babies that born with Severe Combined Immunodeficiency (SCID) to prevent more deaths and create more cures.

Reference:

The Source Magazine of the Plasma Protein Therapeutics Industry (Fall 2017)