Once upon a time, in a kingdom far, far away…
In 1996, at the age of 11, I was admitted to the hospital, emaciated, unable to vomit anymore, incredibly thirsty and barely clinging on to consciousness. I was diagnosed with Type 1 Diabetes and spent my life surrounded by needles and vials of insulin.
Despite all that, I still lived a relatively normal life. I grew up, went to college and subsequently dropped out due to some bad life decisions. I later got married to my best friend and love of my life, and in February of 2014 gave birth to a beautiful baby daughter. But during the end of the pregnancy I began to not feel right. Chronic ear infections and persistent scratching landed me into the office of an allergist/immunologist with further specialization in immunodeficiency. Blood tests showed I had IgA levels of zip and IgB and IgG levels not much higher.
A few more blood tests later and I was given the official diagnosis of Bruton’s Agammaglobulinemia on June 12, 2014. Since the condition is X-linked recessive it is incredibly rare for a female to have, so I went through genetic testing. July 22 I was called and told that I show no mutations in the gene connected to Bruton’s, but I did have mutations associated with Common Variable Immune Deficiency. I have been combing the web for information on everything on the condition and treatment and not finding much comfort.
I have spent the last two years in community college working on an associate’s degree in biology and I am now all set to finish up a bachelor’s in molecular biology and biochemistry at Michigan Technological University, continuing a family tradition of Husky grads. After a brief period of ADHD with how I want to focus my research, dabbling in everything from researching the effects of genetic modification on plants to physical anthropology, I finally settled on studying the immune system’s role in autoimmune conditions after finding myself scribbling research directions in the margins of my notes for General Immunology. My time is now consumed by playing with a baby, picking up Duplos and going over journal articles on a specific kind of T-cell and marking them up with highlighters so that they look like a unicorn sneezed over my binder. Right now though I research gene expression in fruit flies using genes tied to cancer in humans.
Hi, my name is Cat, and this is my story.