Toni’s Story continued …

For decades my body held a secret. A lifelong litany of health problems should have provided clues but a diagnosis was years in the making.  It began in childhood with frequent ear infections, one of the typical warning signs. By my late teens I was experiencing recurrent respiratory infections and frequent viral illnesses that lasted weeks and sometimes months. Later on, for weeks on end I would be unable to sleep more than an hour or two at a time because of severe headaches which always turned out to be due to undiagnosed infections.  Still, no one realized there was an underlying problem.

On Christmas Eve, when I was 60 years old, the puzzle suddenly fell together. By chance that day I saw some three year old blood work. It had been flagged by the lab as abnormal but had been overlooked. It showed that I was not making sufficient antibodies (immunoglobulins). I realized I had Common Variable Immunodeficiency (CVID), one of the Primary Immunodeficiencies, of which “Bubble Boy” disease is the best known. People with CVID are unable to protect themselves against bacteria and viruses. Suddenly everything made sense, but I was dumbfounded at the seriousness of the condition and by the need to receive transfusions for the rest of my life.

CVID can be mild or severe. People with this disease get a lot of infections and are at risk for lung disease, organ damage, certain cancers as well as disability and early death. Chronic autoimmune diseases can often develop. CVID is incurable. The CVID patient must rely on regular transfusions of antibodies in order to fight off even common illnesses such as colds and flu. These antibodies are derived from the combined blood plasma of thousands of donors. Early diagnosis is vital in hopefully mitigating some of these debilitating and life-threatening consequences.

Shocked as I was, the diagnosis explained a lot. When I was 42 and just a month before my husband was diagnosed with terminal cancer, I had been diagnosed with Sarcoidosis, a chronic, autoimmune disease which affects the lungs and other organs. Ten weeks later I was a widow, sole parent to three children and battling this potentially life-threatening illness. The specialist later told me he had not expected me to survive. It took two years to fully recover but I never relapsed. Current medical opinion is that I do not have Sarcoidosis but that the illness was a manifestation of undiagnosed CVID.

Later on, over a period of about ten years I saw many specialists and had frequent, long and often unrecognized and untreated infections as well as several sinus surgeries. There was no recognition of CVID, in spite of the telltale history. A few years before diagnosis, worsening fatigue suggested a relapse of Sarcoidosis. That was ruled out but blood work showed I was anemic. The immune deficiency finding in that blood work was overlooked. The anemia kept recurring. The doctor told me to accept fatigue and diminished functioning as normal for my age. After battling significantly deteriorating functioning and greatly reduced quality of life for several years, the day finally came when I saw the old blood work and realized the truth of my condition. It took the medical system sixteen more long months, and another mis-diagnosis, before CVID was finally identified and treatment initiated.

The long history of infections and the delayed diagnosis are all too common in CVID. Quality of life is often severely affected by illnesses. There can be physical, emotional, social, and financial and workplace consequences that are sometimes dire. By the time of diagnosis, complications have often occurred. I am fortunate that in spite of medical imaging that shows lung damage, breathing tests confirm there is no impairment so far. The very high risk of cancer looms large, as does the increased risk of autoimmune disease, especially with treatment beginning so late in life. I worry about my children and grandchildren in case I have passed this on.

Life with undiagnosed CVID brought many unusual challenges. I couldn’t understand why I was sick so much. It was very frustrating. I felt different without having any explanation. I wondered if I was a wimp or had some kind of mental health problem. I often went to work ill because there was no choice. It was the only way to manage my life, but it masked the problems. There were limits to my endurance. The workplace got my energy while my private life diminished. Eventually I had to let even some important things slide. Life narrowed and I was increasingly down to just coping with essentials. Some family members even thought I was a hypochondriac. All I could do was keep struggling on in frustration and with increasing losses of social contacts and activities.

When I first found out about CVID, Intravenous Immunoglobulin Replacement transfusions (IVIG) were given, usually monthly, in hospital. Meanwhile Canada approved a type of transfusion/infusion called subcutaneous immunoglobulin replacement (SCIG) that can be done by patients at home and had been used in Europe for many years. For me it provided flexibility in scheduling and greater control over my life. However it must be done much more frequently than IVIG, usually once or, as in my case, twice a week. The blood plasma product is provided by Canadian Blood Services but the cost of equipment is downloaded onto the SCIG patient. I am very grateful to live in a country where immunoglobulin products are provided free of charge.

In between realizing my condition and receiving the diagnosis I retired from my career as a social worker in a children’s hospital. I started out in child psychiatry and family therapy, then moved on to the medical side to specialize in helping children and adolescents, and their families, cope with chronic illness. Then suddenly at 63, I found myself faced with a serious, potentially life-threatening chronic illness of my own. It is a strange experience to find oneself on the other side of the table and I am very grateful to my young patients who taught me so much about resilience when faced with life-changing circumstances.

It is now eight years since diagnosis. Treatment and the availability of a wonderful medical team have changed my life and given me quality of life again. I have gone on to cope successfully with my own disease and most of the time enjoy a normal, active life. However, my experience of CVID has not been without its challenges. Periods of infection for me occur on average about three times a year and have occasionally been prolonged and debilitating. As a so-called invisible illness, it can be a lonely disease. Most people have never heard of it and do not recognize what it means. Home treatment isolates patients from others with the disease, and disease-specific community supports are yet to be developed in many places. At times there can be many appointments because CVID is a complex disease which may require the involvement of several specialists.

Diligent management is the key to optimizing my quality of life.  I feel extremely fortunate that there is an effective, tried and true means of management coupled with the support of very dedicated doctors. I am careful about exposure to bacteria and viruses and find it helps when my associates are aware of my vulnerability.  My philosophy has been one of acceptance along with determination to grab every opportunity to get the most out of life.

SCIG allows me the freedom to carry on my life mostly as I would choose. I am physically active and continue to engage in the outdoor activities I love, especially hiking and cross-country skiing. All my vacations are active and my passion is for multi-week trekking usually at high altitude among the highest mountains in the world. I very recently celebrated my 70th birthday and I’ve recently come back from two weeks of cross-country skiing in the Alps and I’m training for a trek to the base camp on the Kangshung face of Mt. Everest in Tibet. CVID has not held me back from chasing my dreams.

How serendipitous it is, that the walking I was advised to do as part of the treatment for presumed Sarcoidosis evolved into a passion for travel and trekking into remote parts of the world. Now it seems likely that my active life-style has not only been helpful in terms of CVID but has also provided unique and eye-opening, even life-changing, experiences that I never could have imagined. This has fostered a positive attitude about my own illness. Timely diagnosis can make such a difference that I am committed to supporting efforts to enhance public and physician awareness of CVID.

<< Return to Individual’s Stories