Guest Column

1
1120

Early Ailment Can Indicate Genetic Disorder

By Christopher L. McGivern
By Christopher L. McGivern

On July 12, 2014, days before my 39thbirthday, my life would change forever. I was a successful and well-accomplished hairstylist of 21 years, a serious college student, fitness enthusiast, doting husband, and loving father when my world came crashing to an end.

Earlier, after a bout of bronchitis failed to respond to antibiotics, I was admitted to the hospital with pneumonia and spent the next 10 days fighting for life. During that time I flatlined twice, and received ‘round the clock antibiotics, high doses of steroids and breathing treatments every four hours.

Besides battling pneumonia, the hospital pulmonologist diagnosed me with chronic obstructive pulmonary disease (COPD), and started me on a myriad of different prescriptions, asthma inhalers, and steroid breathing treatments to begin once I got home. I had never felt so sick in my life.

The worst was yet to come, as this was only the beginning of a very long journey.

Prior to my hospitalization I was relatively healthy. I used to workout six days a week, ate a plant-based diet and led a very active life. I enjoyed hiking, kayaking, and pretty much all other outdoor activities. I also sang with the Orange County Gay Men’s Chorus, MenAlive, which I truly enjoyed. Outside of work and social activities, I was a husband of 17 years, and a father to a beautiful 14-year-old son.

Upon my discharge July 21, I tried to return to work, but would end up back in the hospital due to hair salon chemicals, which I started developing allergies to years earlier.

I was forced to give up in the only career I knew.

My respiratory problems actually developed in infancy, including a bout of pneumonia at age 2. I continued to develop recurring respiratory infections. By the time I was 38, I had been sick with bronchitis and pneumonia more times than I can remember, and hospitalized for such infections four times.

Recurring respiratory infections and the chemicals I worked around for 20 years contributed to my developing COPD, but they were not the root cause.

Over nine months, Mission Hospital in Laguna Beach became my home away from home as I was admitted four more times. The hospital staff and physicians knew me by name.

Being sick had become my new norm and forced me to give up pretty much every activity, as I no longer had the energy nor stamina for them.

Unfortunately, I had still not seen the worst of it. On Feb. 12, 2015, during my first semester at California State University Fullerton (CSUF), I suffered a trans ischemic attack (TIA), also know as a mini stroke. The hospital neurologist explained that the TIA was an autoimmune response from being so sick for such a long period of time. The TIA affected my cognitive thinking, speech, and short-term memory. Over time I was able to regain my speech; however, I still have memory and cognitive issues. What was causing such anger within my body? Why could these doctors not get to the bottom of this?

I was now taking a total of 18 different prescriptions, and began losing hope of ever feeling better. Although doctors were still perplexed as to the root cause of my ongoing health complications, I had been diagnosed with over 20 different medical conditions with no end in sight. With each passing day I became more ill, and began to feel my body slipping away from me. The trauma my body had endured left me in such pain, both physically and emotionally, that rendered my will to live to cease. What kind of life was this? I had given up on this battle, and desired nothing more than to die because I could no longer handle such suffering.

However, on March 23, 2015, I finally met someone who give me hope.

Dr. Sudhir Gupta, chief immunologist at UC Irvine Medical Center, finally gave me answers as to why I had been so sick. He diagnosed me with having a primary immunodeficiency called hypogammaglobulinemia, also called Common Variable Immune Deficiency (CVID,) “is a primary immunodeficiencies characterized by low levels of serum immunoglobulins and antibodies, which causes an increased susceptibility to infection” -Immune Deficiency Foundation. It was a relief to finally have a name to what had caused so much anguish; however, I still had a long battle ahead of me.

There is no cure for my condition only treatment, which consist of monthly intravenous immunoglobulin (IVIG), “a sterile solution of concentrated antibodies extracted from healthy people that is administered directly into a vein. It is used to treat disorders of the immune system or to boost the immune response to serious illness” therapy, according to  MedicalNet. These infusions take on average nine hours to complete, and come with side effects such as nausea, migraine headaches, muscular pain, vein agitation, and fatigue. There are also long term effects such as liver disease, kidney failure, and collapsed veins. In addition to these I am also at and increased risk of gastric, lymphatic and pulmonary cancer due to my disease.

IVIG therapy has definitely improved my overall health and I have recently noticed that I get sick less frequently; however, my immune system is not, and never will be, the same. Consequently, I have had recurring infections such as sepsis, acute kidney failure, aseptic meningitis, along with multitude of other infections wrought by my primary immune deficiency. These recurring infections, and the 22 secondary conditions I have been diagnosed with have ravaged my body, leaving me in a constant uphill battle with my health. This disease has not only affected my health and well-being, but it has affected every aspect of my life. I am still unable to work, or do the activities I once loved because my body cannot handle the added stress.

Nothing can ever prepare you for the loss of your health, the loss of your freedom, or the loss of a life you once loved. And you are reminded of that loss everyday. You are reminded when you first wake up feeling exhausted. When it takes every ounce of strength muster to get out of bed. When you stare at the bathroom mirror at a frail man you do not recognize. When you have to take pill after pill. When you get nausea after every meal. When your energy for the day is spent, yet there are a great deal of things left unfinished.

Besides the loss of the person I once was, I also lost my marriage along the way, as this disease tore us apart.

In spite of it all I continue to keep my head held high, and strive to make the most out of each day. I have continued with my education at CSUF, and will be graduating this May with a Bachelor’s in Science, Health Science. I even managed to make the Dean’s List for maintaining a grade point average above a 3.5! I plan on continuing on with my education upon graduation from CSUF, and would like to earn a master’s in public health. I would also like to use my story to help encourage others people struggling with similar situations in their life.

One of the biggest ways I can begin to help others is by raising awareness about my condition, and other primary immunodeficiencies (PI) that are similar.

CVID is a genetic condition that can be diagnosed and treated from a very early age. The Immune Deficiency Foundation (IDF), which is a “national non-profit patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases (PI) through advocacy, education and research,” explains that “ with early diagnosis and appropriate therapies, many people diagnosed with PI can live healthy, productive lives.”

The IDF also explains that even though PI are caused by hereditary or genetic defects they often time go undiagnosed until later in life, as there are no routine screening done during childhood or in adulthood.

Consequently, primary immunodeficiency diseases are usually detected only after the individual has experienced recurrent or severe infections that may or may not have caused permanent organ damage. It is my goal to help raise awareness about my disease, and many other genetically determined primary immunodeficiencies, in hopes of preventing other individuals the multitude of health complications I have endures due to a lack of early diagnoses.

For more information about CVID, and other primary immunodeficiencies please visit the Immune Deficiency Foundation website at https://primaryimmune.org/sites/default/files/publications/2015-Diagnostic-and-Clinical-Care-Guidelines-for-PI_1.pdf.

For info on the support group Get Connect, email [email protected].

 

The author Christopher L. McGivern lives in Laguna Beach

 

 

Share this:

1 COMMENT

  1. Thank you for sharing your story, Christopher.
    My brother battles CVID and all the many ailments that come with it and often repeat themselves.I wish there was more help available to him, you and anyone else who gets diagnosed. If you have any advice, please share that with me. I’d love to be able to help and maybe the best way is to learn how others with CVID have taken steps to improve their lives and then share that with my brother and others.

LEAVE A REPLY

Please enter your comment!
Please enter your name here