Living With Primary Immunodeficiencies

WHAT HAPPENS AFTER THE DIAGNOSIS

Being told that your child, spouse or partner has a primary immunodeficiency disorder is traumatic because it may be incurable and can be life-threatening, and chances are you know nothing about the disorder. Some in the medical sector refer to it as a disease, but the word disease is frightening to many people and needs to be understood. The dictionary says that "Disease is a condition of the body in which there is incorrect function: ailment, complaint, disorder, malady," but unfortunately, disease has an ominous meaning to our friends, teachers, and schoolmates that sometimes causes fear, suspicion and misunderstanding. It is also very painful for parents to know their child has a disease and just as frightening for the child or an adult, so many of us prefer using the word disorder.

There are literally dozens of immunodeficiency disorders. Some are relatively common, while others are relatively rare. Although there are some that affect a single cell or protein of the immune system, others may affect more than one component of the immune system.

Although immunodeficiency disorders may differ from one another in different ways, they all are the result of a defect in one or another function of the normal immune system.

An immunodeficiency disorder may be caused either by an intrinsic (inborn) defect in cells of the immune system or the immune system may be damaged by an environmental factor or agent. In the former case, the immunodeficiency disorder is a primary immunodeficiency disorder. When the damage is caused by an extrinsic or environmental factor, the immunodeficiency disorder is a secondary immunodeficiency disorder. For instance, AIDS is a secondary immunodeficiency caused by the HIV virus. Secondary immunodeficiencies can also be caused by irradiation, chemotherapy, malnutrition, burns and infections. The secondary immunodeficiences are not discussed in this publication.

The primary immunodeficiencies result from defects in T-cells, B-cells, phagocytic cells or the complement system. Most of them are inherited disorders and may run in families, such as X-linked agammaglobulinemia (XLA) or severe combined immunodeficiency (SCID). Other primary immunodeficiencies, such as common variable immunodeficiency (CVID), do not appear to be inherited; in these cases the cause is unknown but genetic factors may play a role in their causation."10

There appear to be several stages and emotions you may experience while living with PID (Primary Immunodeficiency disorder): shock, relief, inquiry, anger, guilt, fear, acceptance, adjustment, and chronic sorrow. You may experience some or all of these. Inquiry is ongoing, and anger, guilt, fear and sorrow may come and go, depending on the condition of the primary immune deficiency patient on a given day or week.

When first hearing the diagnosis, people with primary immune deficiency and their families frequently feel shock, What is this? What does this mean? What do we do now? This is followed by a feeling of relief that the condition actually has a name and treatment. Then there is a period of inquiry; asking questions, getting information, and finding other families living with the disorder who are knowledgeable and helpful. Hopefully, your doctor has informed you of your country's primary immunodeficiency organization that you can contact for help. Continually learning more about primary immune deficiency from your doctors, publications and other patients will keep you well informed.

After finally reaching a doctor familiar with primary immune deficiency, being diagnosed, and beginning treatment, anger is frequently felt and harbored for a long time toward the former medical care giver, the doctor who kept treating the infections but never suspected anything serious and therefore, never pursued testing - never questioned why the person has recurring illnesses. Anger and resentment also at doctors who behave in a condescending manner toward worried parents, accusing them of being "too concerned", "overprotective" or "neurotic". One mother said, "I am not angry that he did not know about primary immune deficiency disorders. I am angry that he was not curious and interested enough to try to find a reason for the recurring illnesses, and instead, simply patted me on the head and told me not to worry so much." Anger also at extended family members and friends who are not understanding and sympathetic for what you and your family are going through, and do not want to hear about it, learn about it, or share your concerns.

Guilt may haunt parents of children who have inherited X-linked or gene recession disorders, or parents who blame themselves for not having been more assertive sooner with their doctors to force a more aggressive investigation and treatment.The persons with primary immune deficiency, too, may feel guilty about requiring more time and care from their families, or for being afraid, or for not always being able to carry out their responsibilities. You may be surprised at what a young age these feelings are felt but not always expressed.

Another emotion, perhaps the most difficult to overcome, is fear - fear of more outbreaks of illness, fear of more uncomfortable tests, fear of a lifetime of illness. Even optimism for a future cure does not necessarily replace fear of illness next week, next month, and next year.

Acceptance comes when parentscan say "Our child has this disorder, we must live with it, and this is what we must do" or if an adult, "I must accept this disorder and make a life for myself in spite of it." It means accepting the fact that there will be recurring infections and you will have to deal with them. Adjustment means change - changing some elements of your lifestyle to provide constant health management. This may require changing doctors, changing the usual diet, avoiding sick friends or classmates, and being more disciplined about good hygiene habits. It also will mean making some sacrifices such as changing plans and missing events you had expected to attend. When there are recurring illnesses the family routine is interrupted, but acceptance and adjustment can become a willing routine. Refer to the sections, "A SUMMARY OF DO's.

It may take months or even years for you to progress through some of these emotional periods and some of them will reappear during stressful times, but you can deal with them so that you and your family can make the necessary adjustments to cope with the everyday challenges. Then you will understand and accept the disorder and adapt to what needs to be done for your loved one with primary immunodeficiency. This will result in better management of the disorder. You will quickly learn the signs of the onset of an illness, will respond to it swiftly, and will also learn that "this too will pass." Better days will follow. However, even after acceptance and making the necessary adjustments, a mother of a child with an immunodeficiency suggests that "chronic illness can breed chronic sorrow that may decrease during the well periods but increase during the sick periods." However, you must not allow that sorrow to dominate your personality and your lifestyle. That is not healthy for you, your primary immunodeficient child (or primary immunodeficient partner) or the rest of your family.

This diagnosis does not mean it is the end of the world. There will be periods of better health too when your family will engage in travel, holidays, sports, all the normal things families do, and you will have a greater appreciation of those good times. There are many others living with the same primary immunodeficiency disorders who can be supportive and informative. You can meet them through your national organisation linked to IPOPI (International Patient Organisation for Primary Immunodeficiences) countries from around the world. (Refer to the listing of organisations plus the E-mail addresses and Web sites. )

Through an enquiring approach, your understanding will be increased and you will experience better control of the condition. This is empowerment which leads to an improved quality of life. Also bear in mind that the primary immunodeficienies are at the cutting edge of medical science and new possibilities for treatment are being developed through bone marrow transplantation and gene therapy.