The online Women’s Encyclopedia, had an interesting article about Severe Combined Immunodeficiency (SCID) and I’d like to share some of the highlights:
Fast Facts That EVERY Parent Must Know
SCID is a potentially fatal group of immune system disorders that are genetically passed on from parents to their children.
How Different Types of SCID Can Vary:
The most typical kind of SCID is caused by a mutation of the SCIDX1 gene. This gene halts receptors in the plasma membrane, found in specialized immune cells and stops them from functioning properly.
As a result, receptors can’t detect immune system “invaders,” much less increase cell production to destroy the infection, and the body cannot defend itself.
Infection and disease can take over, which sometimes leads to death. There is another type of SCID which involves a mutation of the chromosome 20 and is associated with deficiency in ADA.
That’s a mouthful, I realize, but please bear with me to explain the actual causes…
What Causes SCID?
Doctors and scientists believe that the root and most common cause stems from the genes. Regardless if a person is a-symptomatic or does not technically have SCID, they can be carriers, thus passing SCID on from one generation to the next. Damn that genetic code!
How Symptoms of SCID Differ:
Not always, but usually, initial SCID symptoms will present during the first months of an infant’s life. Without a proper immune system to fend off foreign invaders, babies will fail to thrive; their bodies become susceptible to a host of infections which could include meningitis, sepsis, and pneumonia.
All too often, the infections are recurring, and with a severely weakened immune system, death can result.
Sadly, it’s rare that antibiotics are effective in treating SCID babies, which is why they commonly suffer from repeated infections. It’s rare that SCID babies live beyond the age of two, which is why it’s critical for them to receive an early diagnosis.
Importance of Early Diagnosis:
It’s possible for doctors to test babies in vitro for SCID, but keep in mind that most testing takes place after birth—and it’s usually after babies become symptomatic.
Testing methods can include immune function and blood screenings, but keep in mind that these tests are not mandatory on the state level. This is why the laws need to change.
Treatment for SCID:
You may have heard about the “bubble boy” from TV show Seinfeld, which in reality, was based partly on a true story. The child suffered from SCID and did in fact live in a bubble, which helped to isolate him from environmental germs.
A life with SCID is very challenging for many children.
They cannot be exposed to every day germs commonly found in shopping malls, daycare, schools, restaurants, and movie theaters.
While experimental gene therapy is being tested in clinical trials, an effective, but risky treatment for SCID is bone marrow transplant.
