Toni’s Story continued …

On Christmas Eve, when I was 60 years old, the puzzle suddenly fell together. By chance that day I saw some 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 Immune Deficiency (CVID), one of the Primary Immunodeficiencies. (“Bubble Boy” disease is the best known). People with CVID are unable to protect themselves against bacteria and viruses. I was dumbfounded.

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

Shocked as I was, this explained a lot. I already had an autoimmune disease. I was diagnosed with Sarcoidosis at 42, just a month before my husband was diagnosed with terminal cancer. Ten weeks later I was a widow, sole parent to three children and battling this potentially lifethreatening illness. The specialist later told me he had not expected me to survive. Recovery took two years but I have not relapsed.

Over a period of about 10 years I saw many specialists and had several sinus surgeries, without recognition of CVID, in spite of the typical history. A few years ago, 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 went unnoticed. The anemia kept recurring. The doctor told me to accept fatigue and diminished functioning as normal for my age. After I saw the old blood work and realized my condition, it took the medical system 16 more long months, and a mis-diagnosis, before CVID was finally diagnosed 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 are emotional, social, financial, workplace and medical consequences that are sometimes dire. By the time of diagnosis complications have often occurred. I am fortunate that in spite of a CT scan 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 another 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 was often at 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 endurance. The workplace got my energy while my private life diminished. Eventually I had to let even some important things slide.

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. For me it provided flexibility in scheduling and greater control over one’s life. However it must be done much more frequently, usually once or twice a week.

CVID is a lonely disease. Most people have never heard of it, home treatment isolates patients from others with the disease, and disease-specific community supports are yet to be developed. The blood product is provided by Canadian Blood Services but the cost of equipment is downloaded onto the SCIG patient.

Diagnosis and treatment have given me quality of life again. Illnesses are less severe and usually shorter. Most of the time I am able to function normally but must allow for extra rest during periods of infection. There are many appointments because CVID is a complex disease: multiple bodily systems can be affected, requiring the involvement of several specialists. It is also important to avoid exposure to bacteria and viruses, which is more challenging than it sounds. Diligent management is the key to optimizing quality of life. I am fortunate that, thanks to treatment, I can be physically active and engage in the outdoor activities I enjoy.

I retired from my career as a social worker in a children’s hospital where I specialized in helping children, adolescents and their families cope with chronic illness. Now, at 63, with the support of a wonderful medical team, I am coping successfully with my own disease. My goal now is to work on increasing public and physician awareness of CVID because the timely diagnosis and treatment of this often over-looked and misunderstood disease is necessary in order to save lives and to improves quality of life.

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