One of the many problems with having a rare disease is that very few people know anything about what you, or your loved one, go through on a day-to-day basis. And, getting the word out about your particular rare disease is easier said than done. As a result, with so few people aware, fewer dollars are spent on research to find a cure.
Let’s take a look at severe combined immunodeficiency, or SCID.
Of the primary immunodeficiency disorders, this is the most serious. A person with SCID has a compromised immune system that can’t fight off even the mildest of infections, so catching a common cold can be fatal. When a baby is born, it still has enough of the mother’s antibodies to be healthy, but as the months pass, and those antibodies disappear, serious illnesses can result.
This is the most important reason for why all newborns should be screened for SCID shortly after birth. The old “ounce of prevention is worth a pound of cure” principle applies here.
Presently, there is no cure for SCID, but there are two approaches to treatment. One is a bone marrow transplant from a donor who matches the patient closely, and the other is gene therapy.
