Susan Giorgi-Branch is a patient with a primary immunodeficiency who has been advocating for newborn screening of Severe Combined Immune Deficiency (SCID) in her home state of Rhode Island for several years. When she found out her daughter was pregnant for the second time, Susan decided that she had waited long enough for mandatory screening and took matters into her own hands. She took it upon herself to educate her daughter’s physician about SCID and the family history of primary immunodeficiency diseases. After answering some questions and explaining why it was so important, the physician agreed to test Susan’s granddaughter for SCID.
As Susan says, “Screening has not been implemented here as of yet on a regular basis, however, asking about being testing made it possible.” Susan feels it is important for parents to know that in cases where there is a family history of a primary immunodeficiency disease the baby may be able to get tested for SCID even if their state does not have mandatory screening yet. This is something to discuss with your physician, if you feel like this situation might apply to you. In Susan’s case, while her granddaughter was not positive for SCID, it truly put the family at ease to know that she was tested and pronounced healthy.