Christmas Message

Today Christians around the world are celebrating the birth of Jesus. Fundamental to the importance of this celebration is the belief that the Christ child dwells in the least of us. Thus, all human beings are sacred. Other major religions have similar beliefs about the sanctity of life.

While listening to sermons at two Christian churches in the past 24 hours, I was reminded of a recent patient encounter that I found very troubling.

Last week, on my daily list of patients was a new patient I was about to see. The schedule noted Joe was 47 years old and he was seeking my opinion regarding the diagnosis of Myelodysplastic Syndrome, a bone marrow disease that is considered to be neoplastic and often a precursor to Acute Leukemia. Thus, I was intrigued because the new patient was quite young for this diagnosis and my thoughts before meeting him revolved around an aggressive stance to thwart the process including an allogeneic stem cell transplantation (stem cells from another person) since he was so young. This would provide him with an opportunity for cure and he was young enough to withstand the potential toxicities, assuming he had no other chronic illnesses.

When my nurse brought him into my office for the consultation I was struck by the obvious fact that he had Down Syndrome. His parents accompanied him and they led the conversation. Joe was relaxed and otherwise healthy appearing. But his parents were distraught.

They live in New Jersey and have assiduously cared for their son. They described their nightmare of dealing with doctors who would tell them that since Joe has Down Syndrome there was no need to vigorously pursue any diagnosis that threatened his life. They were stunned when a neurologist refused to evaluate Joe for a possible seizure disorder. Joe’s uncle is a well known pediatrician and took on the responsibility of treating him with anti epileptic drugs even though he is not a neurologist because no local neurologist would do it.

Their most recent concern evolved from routine blood testing that showed that Joe had a very mild macrocytic anemia and very mild thrombocytopenia (low platelet count). Although these abnormalities can be seen in Myelodysplastic Syndrome, they also can be a result of the effects of anti epileptic drugs on the bone marrow. If so, there was absolutely no concern for Joe’s health. They then tearfully related that the hematologist they had seen told them in no uncertain terms that Joe had a preleukemic condition and that he would die from Acute Leukemia in 1-2 years! And then he said that because he had Down Syndrome he would not be a candidate for any therapy!

Their distress was palpable and very understandable. I was stunned by their story. Joe is a human being, and in the Christian perspective, Christ dwells within him.

I was equally tearful and told Joe’s parents that first it was not at all clear that he had Myelodypslastic Syndrome and even if he had it Joe would be a candidate for therapy if the disorder progressed to a point where it threatened his health. Importantly, it was more likely the mild blood changes were merely a result of the use of anti epileptic medication.

I suggested a neurology assessment at my Medical Center and I offered to follow Joe over time. They left my office with gratitude for the respect I showed them and Joe and with relief that the man they loved was likely to live his life as best he could for a much longer time.

I was left to puzzle over my physician colleagues who failed to respect humanity in all of its forms. It was a very sad day for me.