Primary Immunodeficiency Awareness Month

April is National Primary Immunodeficiency Awareness Month. Primary immunodeficiency diseases are a group of more than 300 rare, chronic disorders in which part of the body's immune system is missing or functions improperly. While not contagious, these diseases are caused by hereditary or genetic defects. Some types affect a single part of the immune system; others may affect one or more components of the system. In medical school, many doctors learn the saying, "when you hear hoof beats, think horses, not zebras," and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. People with primary immunodeficiency diseases are the zebras of the medical world.

Before diagnosis, life was not easy, my daughter saw so many doctors and was in the hospital so many times because she was always sick. Isabelle got so sick, her pediatrician referred us to immunology; but sad to say, this first specialist did not perform all the tests needed to confirm a diagnosis. Then my daughter started having more seizures due to the sicknesses and her epilepsy specialist referred us to a different immunology specialist for a second opinion. I took my daughter to see Dr. Susan Pacheco and she performed all the tests needed to confirm a diagnosis.

Isabelle was diagnosed with CVID in 2013. I was overwhelmed, but hopeful at the same time. My daughter started immunoglobulin therapy right away. The term "immunoglobulin" refers to the fraction of blood plasma that contains immunoglobulins, or antibodies. Theses immunoglobulins (Ig) in the plasma are IgG, IgM, IgA, IgD, and IgE. Individuals who are unable to produce adequate amounts of Ig or antibodies, such as my daughter, benefit from replacement therapy with Ig.

It is important to understand that the Ig that is given partly replaces what the body should be making, but it does not stimulate the patient's own immune system to make more Ig. Since Ig only replaces the missing end product, but does not correct the patient's defect in antibody production, Ig replacement is usually necessary for the patient's lifetime. In addition, the Ig only provides temporary protection. Most antibodies, whether produced by the patient's own immune system or given in the form of Ig replacement, are used up or "metabolized" by the body and must be constantly replenished.

Isabelle's Ig replacement therapy is administered subcutaneously (SCIG) weekly. SCIG is injected slowly, directly under the skin. This treatment plan has improved my daughter's health and quality of life. Yes, she still gets sick, but she is now able to recover within two weeks, not two months.

All individuals diagnosed with a primary immunodeficiency have overcome different obstacles in their lives. Isabelle is only one zebra in the medical world; but she is a strong, brave, little zebra!

Think Zebra!