How I Survive with Two Rare Disease

February 12, 2017

by Joanna Tierno

My symptoms started when I was about six months old with my first infection and a failure to thrive.

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, and spleen. I was tested for everything including leukemia but tests mostly came out normal until my immune system was tested. There they found I wasn’t making enough antibodies to fight infections. This can lead to organ damage or even death. I was only about five years old so doctors hoped I would develop a normal immune system as I grew older but I never did.

I was just sick over and over again and as I grew older more medical emergencies began to happen. I was paralyzed once for three days and a neighbor found me, probably just in time because we were in a heat wave and I was unable to move I had no water for three days and no air conditioning.

Another time I woke up in excruciating pain with a feeling like everything from the waist down was shutting down. I was able to call 911 and was rushed to the hospital and an emergency exploratory surgery was performed- I had internal bleeding but doctors couldn’t figure out why.

I was only twenty and trying to work and build a life for myself, but my body was not cooperating. I suffered severe migraines that left me dehydrated and weak. My blood work became more and more bizarre. When doctors would look at my results they would ask me what chemotherapy I was on. I would explain I wasn’t, which left them wondering how my platelets could be so low. I got sick so easily.. and it took a very long time to recover so it was like I was always sick. I didn’t have a name for what I had, didn’t have a treatment or any help with this at all, until I had my immune system retested as an adult and I came up with two rare primary immune deficiency diseases- hypogammaglobulinemia & hypocomplementcemia. The doctor prescribed antibody replacement therapy- Immune globulin which is made from plasma donations. This started my road to improved health and quality of my life.

Another two decades of life was given to me thanks to this lifesaving treatment, but three years ago I was diagnosed with another rare condition- Porokeratosis (immune related). Its a skin disease which sounds like no big deal (after all I have been through) but there is no cure and my body reacted badly to most of the treatments. With each new medication the lesions spread instead of cleared, until I reached a point that I was too itchy to sleep at night and my skin would spontaneously bleed. This is not a good sign with porokeratosis as it can turn to cancer. And mine was widespread. Eventually I was blessed to find ways to calm my skin- some prescription, others over the counter.

I apply my medication two times a day plus the OTC lotions and oils throughout the day. My skin looks normal and I can sleep again, but it is a constant battle. I can’t be exposed to the sun, and if I don’t get enough sleep or get stressed I will get a flair up that can take months to fully clear. Its another restriction on my life.. Living with primary immune deficiency can be isolating since to avoid infections I am often avoiding crowds and people. I also have a number of normal conditions each with its set of rules I need to obey if I plan to function at all. Its not easy but my life has gone on. I try to focus on what I can do- not what I can’t. I find joy in life and just do the best I can with each day. I try to raise awareness of my conditions and of all rare diseases. So many patients don’t have a treatment and we all deserve to have more hope and eventually cures. I am turning 45 in a few days. that is something that would not be possible without modern medicine and a few miracles along the way. I hope my story can inspire others to keep fighting.

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