I was recently diagnosed with a genetic disease called Common Variable Immunodeficiency Disease (CVID). CVID is relatively rare (1/50,000 people are currently estimated to have it--that's 6238 Americans based on the 2010 US Census, or 137,888 based on the 2011 estimated world population of 6,894,400,000) yet there are many people out there who are suffering and don't know that they have this disease. They spend their time feeling horrible and sick and tired all the time and don't know that there is a treatment. Worse yet, many doctors don't even know that this disease exists, so trusting a family doctor to diagnose it or even test for it is just not effective. Many patients with this disease go years looking for help and knowing that something is seriously wrong. We often lose close friends and partners, or get abandoned by family members or even doctors because they think we're hypochondriacs.
This disease has the ability to mimic or even cause other diseases such as Crohn's disease, Ulcerative Colitis, Lupus, Rheumatoid Arthritis, and can increase the risk of cancer. Often CVID patients will have symptoms of these other diseases, but because the tests for them tend to be antibody tests, the results will be negative. This complication can lead to a patient feeling crazy--like they know something is wrong but no one can figure out what it is, and uninformed doctors will often begin to treat the patients as if they are attention or drug seeking. In addition,
I want to help spread awareness of this devastating disease. With proper treatment and early intervention a patient can live a full and nearly normal life. However; if the patient doesn't get diagnosed until later in life, the chances that they will die from infections or lung damage are greatly increased. That is my motivation for creating this blog.
CVID causes a person's immune system to fail. It is a genetic disease, so there is no risk of contagion, however as CVID patients we must be ever-vigilant to protect ourselves from germs in the general public. This disease has been researched for about 40 years, yet there is little known about how it works. Each patient may have a different experience with the disease, so it is difficult to give a concrete list of symptoms. Generally, if a person has a history of repeated infections such as sinus infections, pneumonia, bronchitis, pleurisy or urinary tract infections (UTIs), that is a red flag that they should be tested to determine whether they have CVID or a similar Primary Immunodeficiency (PI). In addition, it seems to be a common factor that CVID patients have a sub-normal body temperature, and tend to feel weak and tired. The basic criteria for diagnosis is that a patient have a history of infections and low immunoglobulin levels, especially IgG. I know of 4 types of immunoglobulin (not including sub-types); they are IgG, IgA, IgM, and IgE, but I believe there are more. From what I understand, IgG is your body's long-term immune system memory (eg: childhood vaccinations), IgA is the short-term memory (colds that you had recently, etc), IgE is supposed to indicate whether you have allergies (but it seems like a lot of us CVID patients with low IgE have a lot of allergies), and IgM (and I'm not sure what that does).
There is a treatment that is a lifelong endeavor called Intravenous Immunoglobulin (IVIG). IVIG is a blood product that is made up of the antibodies from over 20,000 different donors, and constituted into a drug than can be administered by IV or subcutaneously. The manufacturers try to ensure that each dose of IVIG covers the major scary diseases that our childhood vaccinations no longer do. Antibodies for things like diphtheria and chicken pox are included in it to help protect us from susceptibility to those diseases. Researchers have found over the years that the only form of immunoglobulin that they can replace is IgG, so if you are low in the other categories, they can do nothing to replace those. Treatment is required anywhere from daily to every 4 weeks, depending on the type of treatment, and the levels of IgG that they are trying to maintain. Some people are lucky and have no side effects, but many of us have almost debilitating side effects from the treatment, but the alternative is worse.
For more information, check out the Immunodeficiency Foundation's (IDF) webpage at: http://www.primaryimmune.org./
Here are some medical reference books about Primary Immune Diseases:
Question: What challenges do people with CVID face? http://www.sharecare.com/question/challenges-common-variable-immunodeficiency-face#cmpid=scw
