Primary immune deficiency disease

The story of Joanna

I was born in 1972 with a primary immune deficiency called hypogammaglobulinemia which is a deficiency of the main antibody defense against bacteria. No one knew at the time of my birth. I was a normal healthy baby the first 6 months of life probably because that’s when a baby still has some immunity from its mother. After that I had some weight loss and lots of vomiting which doctors called failure to thrive and they switched my formula around a lot. Later as I grew, I had pneumonia more times than I can count, chronic ear infections and ear drum ruptures so I had only 30% of my hearing left in one ear, bladder and kidney infections, swollen lymph nodes, liver, & spleen and we were regulars at the emergency room, we were referred to an infectious disease specialist who became my primary doctor. They knew from an early age that I did not have a full immune system but my mother feared dependency on antibody replacement would interfere with my immune systems ability to develop and so she wanted to wait till I was 12. My infections were treated with antibiotics which didn’t always work on me. I also had a low response to some vaccines. On average I missed 30-60 days a year of school but maintained good grades. When I was too sick for school I’d lay in bed and watch channel 13 or after school hours sit by my window and watch other kids play. I did this on my own and I think its why I didn’t get too out of the loop with school work or friends. Still my being sick sometimes caused problems for me at school. Once after returning to school after being out for weeks with pneumonia, a school lunch aid locked me outside on a freezing winter day in the cold because she wouldn’t listen to me when I explained that I didn’t have a coat in the lunchroom with me because I had a doctors note and special instructions to remain indoors. Other times I was treated with a strange resentment because of my frequent absences. Still when I wasn’t sick I had a normal happy childhood that was filled with lots of friends and activities like dancing school and girl scouts. My Mom understood and respected when I needed to rest and she did her best to protect me from infections but we never talked about what I had and we never meet another patient or family with primary immune deficiency disease.
At 12 when most kids immune systems are fully developed, my immune system was retested and gamma globulin was recommended. My mother was afraid because its made from human blood products, the shots are considered painful and she feared my own immune system work less and decided against treatment. We left the doctors office and I was never brought back. We never talked about my immune system again.

My teen years were a bit healthier, but I think only because my peers had fewer infections and I grew to forget about my deficiency and worked hard at staying healthy and normal. My college years were average, but when you have a disorder your whole life you make adaptations that your not really aware are different. When I selected my classes I would try to get a course outline and start reading my texts and do as much work early as possible to allow room to be too sick to do work and not get behind. I was top in most classes and won scholarships and awards. Still these years were hard and I also started suffering from terrible headaches that would cause vomiting and last for days. I never knew when illness would strike. Once I woke up in agony, unable to move or speak, and threw up for several days in a heat wave with no water or air conditioning. A neighbor realized something was wrong and found me and brought me to the emergency room where I was re-hydrated. No one guided me medically and being young and naive I handled each failure of my body the best I could and when I was well I worked harder than most people to keep up on things that were important to me like school. After college I worked briefly but was always collapsing and being taken to the emergency room. Once I woke up barely able to walk and & in tremendous pain in my abdomen. I called an ambulance and was going into shock by the time I arrived at the hospital. They did an emergency exploratory surgery and found internal bleeding but couldn’t tell me why.

I wasn’t dating my husband long the first time he saw me really sick. I was so embarrassed I told him to leave but he wouldn’t. He was worried even though I assured him I’m sick all the time, so its OK, he convinced me it wasn’t normal and he started bringing me to see doctors he knew. From my blood work they would always ask what kind of chemo therapy I was on because my platelets (a part of the blood that keeps you from bleeding) were so low and other blood levels also way off. I went for so many tests and after my stepson started school became so sick all the time that I truly feared for my life. I had brief periods of being OK, but mostly I was always sick, had trouble breathing, no appetite & coughed constantly. I developed nodules on my lungs and growths that had to be watched. Still I did the best I could to take care of myself and my family, but here’s where not having a name for a problem becomes really cruel. I physically suffered and was mentally tormented by not understanding why I just couldn’t be OK. I was young, ate good, exercised, got enough sleep, didn’t drink or do drugs. I looked as healthy as anyone else. Why couldn’t I just be OK enough to function & to stay out of the emergency room with frustrating and scary problems that I never got complete explanations for? To make matters worse, I think some of my in-laws just thought I was crazy or was lazy and faking my illness. I know I’ve hurt many feelings for missing things because I was too sick or tired to go. One of my aunts remembered that I had something wrong with me but couldn’t remember the name or what it was about. Others thought my immune system needed to be built up and some deliberately exposed me to their colds, flu & strep throats. Each time I got anything I basically lost a month or more of my life and suffered terribly. It meant housework, childcare, everything was so hard and no one seemed to understand or care except for my few closest friends.

Finally one night in my mid 20’s I had a dream with an angel in it that told me that my immune system needed to be tested and I needed shots. My husband thinks this was my subconscious remembering what we all forgot from my childhood. During my next visit to my primary I told her about my dream. She told me that no one ever has anything wrong with their immune system but that she’d test me anyway, but that if I kept talking to angels that maybe I should see a therapist. A week later my tests came back that I had 2 deficiencies- hypogammaglobulinemia & hypocomplementcemia. It wasn’t till I was on treatment a while that I learned I only had 1 deficiency- hypogammaglobulinemia, but that a deficiency in one area can make you low in others. That’s also why my platelets get low. And as it turns out my diagnosis and history was in my charts all along! Anyway, that’s when I finally saw an infectious disease specialist and started antibody replacement therapy which is amazing because they take the antibodies out from thousands of blood donations to give you a wide range of antibodies in each infusion. These antibodies help you fight infection. At first even my husband was in denial about my diagnosis, but he learned to administer my immune globulin. The treatments are a treatment not a cure, but my doctor said I’m an excellent responder. Gradually I got healthier and stronger. I finally know what having an appetite is. I sometimes now just get sick for a short time-its not always months to get well from each bug. I am still very careful to avoid getting sick and get enough rest, but treatment has given me a good quality of life without any side effects at all. I am usually able to go to the gym, enjoy bike riding and take care of my family, home & pets.
The 10 Warning Signs of Primary Immune Deficiency
1). Eight or more new ear infections within one year.
2). Two or more serious sinus infections within 1 year.
3). Two or more months on antibiotics with little effect.
4). Two or more pneumonia’s within 1 year.
5). Failure of an infant to gain weight or grow normally.
6). Recurrent, deep skin or organ abscesses.
7). Persistent thrush in mouth or elsewhere on skin, after age 1.
8). Need for intravenous antibiotics to clear infections.
9). Two or more deep-seated infections such as sepsis, meningitis or cellulitis.
10). A family history of primary immune deficiency.