Shades of Gray

by Marientina Gotsis

I was born with beta thalassemia trait. My father carries the gene. My brother carries the gene. Half of my dad’s family also carries the gene but my parents did not know my father had thalassemia until they had to test in order to get a marriage license. This was before separation of church and state in Greece and the church required genetic screening. The mystery behind my father’s endless craving for steak and sleep was solved.

When I moved to the United States fifteen years ago, I found a lovely Jewish family doctor who took care of me and never had to explain much about why my health was delicate. When I moved away from her into a new health care system, my nightmare began. The first problem was that I had no idea what to call my problem. We described it as Mediterranean anemia in Greece and therefore up to 2004, I had no idea that it was called thalassemia.

Most emergency rooms thought that I had sickle cell disease yet they still paid no attention. When I went online looking for information, I was confronted with a word that hurt: “asymptomatic”. I thought I was crazy and most doctors thought I was also crazy. They wouldn’t order the right tests for me and they were convinced my problems were because of something else. I was already 15-20% short of feeling great and as I aged and developed additional health problems that took away a few more percentages off my well-being, it became harder to defend the impact of multiple diagnoses.

For the longest time while growing up in Greece, nobody questioned why me and my brother were pale, sickly and weak children. Neither of us are transfusion dependent (yet) but we are also not asymptomatic. They recognized us as carrying what in Greek we call the “stigma”, the mark of thalassemia. It isn’t a flattering word but at least it hints that a problem may exist.  Both my brother and I have quite less than normal hemoglobin, we tire easily and we need a lot of sleep. Neither of us were athletic and we both crave steak in the wee hours of the morning. Without proper care and supplementation, we’re not very chipper or productive individuals.

In my quest to find out what the problem was with thalassemia in the US, I connected with many communities online who were dealing with the same disparities in health care and I conducted literature reviews trying to help myself and others who were not connected to proper care. The problem was quite large and it completely consumed me for a few years. Things are getting better but many issues remain unresolved. The problem is larger than me, my family or the country I live in but with a practical outlook and open mind, it can and will be tackled.

One of the problems I encountered online was information fragmentation and outdated advice. I strongly believed in regular literature reviews but the problem was that most people didn’t share my nerdiness and academic resources. Ultimately, I realized that the biggest problem with all the information lied beyond accuracy and more in how it was presented. It forced people into categories and they sought to fit into one and weren’t open to fit into others or try.

Genetic disorders don’t fit into neat boxes. We have to make tables and try to organize information somewhat for sanity’s sake but each person and each thalassemia are unique. It all boils down to a complex combination of inherited genes, environmental factors and individual behavior. Even this previously thought simple mendelian disorder has hundreds of gene mutations and variations.

It used to be black and white: transfusion-dependent or not. Then there was alpha and beta. Then subcategories of each were discovered. More and more variants reveal more and more phenotypes. Doctors try to predict the course and they can do that to some degree but it is also in the hands of individuals and families. It starts with us, here and now. It is a philosophical problem. Think of thalassemia beyond red and forget the black and white genetic inheritance graphics for a moment. Think gray. Many shades of gray. That is what it feels like to have thalassemia.