My name is Joanna and I was born with hypogammaglobulinemia, which is a Primary Immune Deficiency Disease (PIDD) and a genetic defect of the immune system. It often takes a ridiculously long time to be diagnosed with PIDD, on average of nine to twelve years! Many patients are treated like they are crazy or told that their ailments are “all in their heads. ”  Yet they are really living with permanent damage to their lungs or other organs.

On top of it, some patients  have trouble accessing proper treatment and care. Even if all goes well, patients like me still struggle with managing infections, side effects and living with a disease that is poorly understood by many – even by those closest to us.

Since 
early childhood, I’ve suffered from a list of maladies; failure to thrive, pneumonia, bronchitis, asthma, chronic ear infections and hearing loss, bladder and kidney infections and swollen lymph nodes. Each individual issue was treated by doctors but the underlying cause was never addressed.

No one ever told me the name of the disease I had, and it wasn’t until my early 20′s when my conditioned worsened that I finally began receiving answers about my disease and the potential treatment for my primary immune deficiency which is called immune globulin (made possible by plasma donations).

Without immune globulin I suffered from 
frequent and severe infections,
 migraines, vomiting and dehydration, and even low platelets. Before treatment I 
had one instance where I had
 internal bleeding and another where I lost all
 control over my body and couldn’t move or speak for days, but mostly I just had 
severe infections that would land me in bed a month or more at a time. I had no 
appetite, was often in pain and also had trouble breathing. I got sick so easy 
that new infections were really impossible to avoid no matter how careful I
was. It seemed I was almost always sick.

Antibody replacement therapy which is made by pooling approx. 60,000 plasma donations per batch & removing just the antibodies, has helped me to have fewer and less severe infections, more energy and less
 pain. I get infusions of these antibodies weekly.
 I am usually able to go to the gym, enjoy bike riding and take care
 of my family, home & pets. I no longer have complications
 from the infections that I used to and I do tend to recover in a more normal
 way.

I enjoy a happy life with my family and mostly do so well that few
 would ever guess there was anything wrong with me unless I tell them. I’ve been feeling well enough that I’ve been able to volunteer with the immune deficiency foundation which is the national non profit patient organization dedicated to improving the diagnosis, treatment & quality of life for patients with primary immune deficiency diseases through advocacy, education & research.

I find there are so many reasons to have hope. For one thing many PIDD patients can enjoy lives that were not possible years ago. The longer each one of us lives, the better the treatments may become. There is also hope and healing in the community; thanks to the Internet, it is possible to meet so many people who share your experiences even if they are rare.

I have found that goal setting is very important. Goals give you a reason to fight and a reason to hope. My goal is to raise awareness of PIDD so that all future patients like myself will have an easier time with everything. Hope blocks fear, insecurity and even pain. Hope can make the impossible possible, especially if we break our goals into small steps that can be taken even with our chronic health conditions. I don’t know where hope really comes from.

I’m guessing, Hope is in our genes – just as the disease is in our genes. Perhaps our fight is not just a physical one but is also a fight of hope against the disease.

1 thought on “Joanna Has Hope Despite Suffering From Primary Immune Deficiency Disease (PIDD)”

  1. Sharon Horsey says:

    I was just reading Joanna’s story. When my son was diagnosed at age 5 in 1967 at UCSF, It was explained to me that I carried the DEFECTIVE gene as did his father. I was told that only males are born with hypogammaglobulinemia. Females get some form of it in later life usually a-globulinemia. It has been many years since I had that conversation with severa doctors at UCSF. I was also told that Fthers pass the defective gene to daughters and mothers pass the gene to sons. It takes both parents to have a defective gene to produce a son born with Congenital Hypogammaglobulinemia. I was also told that the chances of a child born to us with the disease was 1 in 4. It happened to my first born. I have known of 4 others, males, with CH. Three males in one family. The fourth was the brother of my UCD med center doctor that lived to be 23. I did know of one female that my son’s hematologist was treating that in her 20’s developed a similar condition. I would like to know more about the current meds and care for those persons born with this immune deficiency.

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