Our Primary Immunodeficiency Disease Journey 

Our journey starts in January 2003. God blessed me with a beautiful little girl. I had no idea the joy and love I could have in my heart until she arrived in my life. She was so tiny, at least to me. I always worried if I could ever be the mom she deserved.

Emily grew so fast. It was obvious from the beginning that she was going to be a tall and skinny girl. At every check up she would be in the 95% in height and 25% in weight. Emily was also a happy baby. I don’t believe I have ever seen a baby smile as much as she did. Rarely cried; and if she did, there was a diaper to change or a bottle to give.

At 18 months of age, I realized that it was time to allow her to explore the world. I had been fortunate enough to be able to stay home with her from the beginning but knew it was time to let her start learning how to play and make new friends. To this point I had been her only playmate and I knew it was time to “expand her horizons”.

I enrolled her in daycare. I worried she would not adjust well. I had been her only playmate for so long. Boy was I wrong! It only took a couple of days of crying at departure. After that, she would run to the daycare door as soon as I lifted her from her car seat saying: “Cmon Mommy, I wanna play!” She loved going to play with her “fwends”. To this point, she had always been a happy healthy baby girl, but that was about to change.

I had enrolled her in daycare in August, shortly thereafter, she began getting sick. She had been diagnosed with an ear infection, and then another and another. Her pediatrician indicated that it was normal for a child in daycare to be sick a lot. I knew something just wasn’t right. By December, she had been diagnosed with seven ear infections. I challenged the doctor as to why so many infections. The answer: children in daycare get sick. I understand children get sick in daycare but seven infections in just four months; I just knew something wasn’t right.

After talking with a few friends and family, I decided to take her to see an ear, nose and throat doctor. I wanted to just make sure everything was as it is suppose to be. Our first visit was right around Christmas time. I went into the appointment, expecting to be told she was fine and that children in daycare get sick. But after I had given then doctor the history of infection and antibiotics she had been on, he stops and turns and looks me in the eye and asks: “Has she ever been tested for immune deficiency?”

I was stunned. What? Seriously? What the hell is immune deficiency? He briefly explains that children with immune deficiencies usually present early on with recurrent ear infections and that I should get her tested. So we finish the appointment with a surgery appointment scheduled in January to have tubes put into her ears. The ENT states that he will send an email to her pediatrician concerning his thought of immune deficiency.

January comes and eight days after her second birthday we are at the hospital. They come to take her back to surgery. I am terrified! I know its just tubes for the ears but this is my baby girl and they are taking her away from me and I am not allowed to go with her. I think I cried the entire time she was gone. Silly, I know, but she is my baby girl!

Finally, after what seemed like forever, they bring her back to me. It really had only been about half an hour but seemed like a lifetime. She was crying from the anesthesia and the sound of it was absolutely glorious.

Later that January, I follow up with her pediatrician concerning the immune deficiency thing that the ENT had mentioned. She confirmed that she had in fact received an email from him and placed the order for blood work testing. I had no idea what to expect. How do you draw blood from a squirmy little two year old? Well I was about to find out and it was the worst experience of my life! It took four of us to hold Emily still enough to draw the blood. I felt like I was the most horrible mother in the world that day. The fear in her eyes as she looked at me screaming while I helped hold her body still enough for them to do what they needed to do. Little did I know that day that this procedure would become a common event in her life.

Two weeks later, the results were in. I received the phone call from her pediatrician that would change our lives forever. It had been confirmed that Emily’s IgG levels of her immune system were in fact low. IgG makes up the majority of the body’s ability to fight off infection. Her levels weren’t horribly low but she is going to be more susceptible to infection than other children. I was floored! I did not understand and did not know what questions to ask all I could think was: “What do I do for her?”  The doctor told me that I should always call if Emily gets sick. The most important thing is to catch any bacterial infection as early as possible so it can be treated immediately. Then she told me that it is very important for her NOT to get the flu or pneumonia, as those could be very dangerous for Emily. Oh and by the way, Emily’s body did not respond to the pneumococcal vaccines she received as an infant. This could explain why she is becoming sick so often so we need to vaccinate again. I hung up the phone in disbelief.

For the next two years there were countless trips to the doctor’s office and emergency room. Many of the illnesses were viral, of which there is nothing one can do but let it run its course. However there were several bouts with strep throat and sinus infections. All along, the doctor treated each illness individually. After so many trips to the doctor's office, I started to feel as though they were getting frustrated with me, but the doctor had told me that she wanted to know every time Emily had a fever. I guess she didn’t realize that it was going to be every two to three weeks. Complacency was setting in.

Late one Friday night, Emily fell sick suddenly. Fever was around 100 and throwing up. I called the doctor’s exchange, they already new me well there. They told me to give her Tylenol and Motrin alternated every three hours for the fever and to offer small sips of water over night and to bring her into the office the next morning. The next morning I am waiting at the office doors as they open, and the welcoming committee was not particularly happy to see me.

The doctor looks at Emily and decides that its just viral, lungs sound good, nothing to worry about. Take her home, let her rest and drink plenty of fluids. If her fever spikes to over 101 then take her to the emergency room. Ok, I can do that; problem is that within one hour after returning home, her fever jumped to 102; so off to the ER we go!

By the time we arrive at the ER, Emily’s body had become limp. She was conscious but did not have the strength to move or even cry. She is three years old and just laying there; I am scared out of my mind. The diagnosis: dehydration and pneumonia. WHAT? PNEUMONIA? THIS IS THE ONE THAT WE WERE TOLD TO TRY AND AVOID!

We spend the night in the emergency room pumping her poor little body with IV fluids and antibiotics. It is winter: peak of flu season and the hospital is full of flu cases. They want to keep her but are afraid to expose her to the flu on top of the pneumonia she already has, so they send us home with medication and instructions to return if not feeling at least a little better by the end of the next day.

We return home and I become angry. Her pediatrician says it’s viral; even mentions that her lung sounds are normal, nothing to worry about. How can it change in a matter of two hours? I chalk it up to complacency and a missed diagnosis. This same story would repeat itself again six months later. It was time to change doctors.

After much searching, I find another pediatrician and set up an appointment just to talk with him. You know, interview him. We meet and I give him the brief version of Emily’s medical history. The first thing he asks: “Who is her immunologist?” I must have had a blank look on my face; he repeats the question. I tell him I don’t know what an immunologist is and he immediately shows disgust, and explains what it is. And here we go with the blood work again. And again, her IgG levels are low, but not low enough to be referred to an immunologist. We need to watch closely and address any illnesses as soon as possible. At least this time, I am told that there is a possibility that she may grow out of this.

Three years go by and Emily being sick frequently has just become a way of life. A change in our insurance required us to find a new pediatrician under our new plan. After reviewing the medical records, another order for blood work, to see where her levels are now. Still low but not low enough to refer to an immunologist.

The next coupe of years, Emily is sick more than healthy. Countless visits to the doctor’s office and emergency room. There are countless strep infections and viral infections. Now we are told that since she is in school she is going to get sick. I think to myself, this can’t be right. Yes, kids in school are going to get sick, I understand that, but this can not be right!

Finally, I start to research what little I knew about immune deficiency on the internet.  I was surprised at what I was learning. Why did I wait so long to do this? The patient stories I was reading are carbon copies to our own experiences. We had experienced complacency in the doctor’s office as well as the emergency room. No one ever thought that maybe it was time to dig further into why Emily was getting sick so often.

I also found that many patients experience isolation within their community and families. Statements such as, but you don’t look sick, or she must be faking, or you just don’t want to go to school kept popping up everywhere I read. We had experienced the same thing. Truth be told; I had been convinced of the possibility that Emily could be faking to get what she wants. She is an only child so she has to be spoiled and this is her way of getting what she wants. But in the end, I knew deep in my heart that something just wasn’t right so I start my search for an immunologist. If no doctor will refer us then I will refer us myself.

Eight years from the start of our journey, we are finally sitting in the office waiting to be seen by an immunologist. No surprise, first thing on the agenda: you guessed it, blood work. For some reason this time I don’t mind. Emily has even become an old pro at it as well. She will even show them the best arm to draw from these days. I look at her with such admiration; she has gone from a kicking screaming two year old, to a very strong and poised ten year old.

Two weeks later lab results are in and the same old story repeats itself. IgG levels are low and her body still is not responding to the pneumococcal vaccine, but this time there is more. They also find that her IgE (allergens) is low and parts of the complement system are low as well. What? What is all this?

Through my research, I had seen many references to the fact that some medical students are taught to look for the likeliest of possibilities of what an illness might be. “If you hear hoof beats, look for horses instead of a zebra”.  Is it really possible that this doctor is actually looking for that zebra? I had often thought that Emily was a “zebra” in the medical world, but I am not a doctor, so there is no medical training only research on the internet. The immunologist ordered another pneucoccal vaccine and another round of blood work to dig even further. Really? Seriously? Finally, he is certainly looking for that zebra.

Just a few days ago, we had our follow up visit. Yes, he was looking for that zebra and he found it too. The diagnosis is IgG Subclass Deficiency with Specific Antibody Deficiency. There is a suspicion of Complement Deficiency as well and testing is still on going for that one. Asthma and allergies are also included in the diagnosis. FINALLY!

Through my research, I had suspected but for obvious reasons, could not confirm that she was in fact immune deficient. We have endured the accusations of just over reacting and faking the illnesses. We have had people roll their eyes at us when we try to talk about what Emily’s needs have been. Finally, a doctor has confirmed what I knew down deep in my heart was there.  For eight years, I knew something just wasn’t right. I just didn’t know how to fix it; even some of her doctors didn’t know how to fix it. This doctor DOES know what to do!  I finally had found a doctor willing to look for zebras instead of horses and the feeling of relief was amazing.

There is no cure for immune deficiencies only treatments to help the body fight off infection so organ damage can be avoided. There is still a chance that Emily could outgrow her disease, however it is becoming more and more unlikely the older she gets. We now have a treatment plan in place and Emily will be monitored and tested every three months initially to ensure that treatment is working and that her disease is not progressing to something more serious.

Her life is forever changed and may include a life filled with doctors and hospitals and labs and medications but she is a resilient and strong young lady. I am so proud to have her as my daughter. I am so glad that I never gave up. I am so glad that even though I strayed away from that gut feeling that something just wasn’t right, that I came back to it and fought with all I had to find a way to help her.

The majority of my research was found on the website of the Immune Deficiency Foundation. I have found a second home there. Without the wealth of information they have provided, I am not sure Emily would be where she is today. The biggest thing I have learned is never give up. Never quit looking and learning. There are times that your child has only you to depend on for help. Our journey is only beginning, but we are finally heading down the right path thanks to the information provided by IDF that led me to the decision of breaking ranks and finding our own immunologist.

Because of what the IDF did for us, I have joined with them in an effort to educate and promote awareness to immune deficiencies. If you know someone with recurrent infections, infections that are difficult to recover from or would just like to learn more about immune deficiencies, go to www.primaryimmune.org. Find out how it may not be just another infection but another zebra waiting to be found.

Dona Darr