|Image description: Cherry red spot as seen in Tay Sachs disease. The center of the fovea appears bright red because it is surrounded by a milky halo. Photo by Jonathan Trobe, MD. 6 September 2011. Public Domain. Source|
I began the long drive to the pediatric hospital on a route peppered with traffic jams and incessant honking. Some of my medical school classmates simply do not attend the rotation, but I always make it a point to go. It is fun to see the smiling babies and their proud mothers beaming when the “doctors” play with their children. As juniors we mostly see children for simple infections or routine vaccinations. But today was different. As my friends and I entered the ward, we saw a family we recognized from our previous rotation in obstetrics and gynecology.
Matthew was a fisherman, and his wife had her first child six months ago. I remembered him because he seemed like the perfect father. Despite being from a remote seaside village, he had insisted that his first child should be born in the city, in the state’s best hospital. Though poor, he was a very enterprising man, and had moved heaven and earth to have his wife admitted in spite of the competition and the never-ending line. In our part of the world, the father is not allowed to enter the females only labor room and has to wait outside. During his wife’s labor, he would keep asking us about her. When his son was born, my friend and I were the ones to place the child into his hands.
It is always a special moment to see a new parent. Matthew was crying and making the sign of the cross, whispering his thanks to us. He emphatically declared that he would make his son a doctor someday. It was good to see him here again with his son for what must be a vaccination visit. We greeted Matthew but did not see the confident young man that had beamed with pride when he became a father, but instead a man with a worried face. His wife had also faded like a flower.
The little boy was barely a shadow of the healthy, plump infant he had been at birth. Matthew told us in a choked voice that his son could no longer sit, turn over, or crawl. He had experienced seizures and had become blind and deaf. They had first gone to a faith healer, who are popular in our country despite their ineffective and useless treatments. This particular faith healer had told Matthew’s wife that the devil had cursed them, and that the only way out was to stay alone in a room for a week, taking only water and no food. Obviously, that had changed nothing. “Let’s pack up and go to the hospital,” Matthew had said to his wife. “The doctors will save our child.” And here he was.
The residents had ignored him, primarily because they had no idea what was wrong. However, there is a saying at our pediatric hospital: no one ever leaves undiagnosed. The chief resident appeared, asked Matthew about his child, and called for a fundoscope. I watched the resident’s face become serious and he took a deep breath before calling me over to look. There was the distinct cherry-red spot. “Are you and your wife cousins?” my teacher asked. “She’s my aunt’s daughter,” said Matthew, surprised that this was something of importance, since this type of consanguineous marriage is common in our part of the world.
“What is your diagnosis?” he asked, looking at all our shocked faces. “Tay-Sachs disease, sir,” I whimpered. His appreciation of my correct answer barely registered with me. Thoughts flooded my mind in a haphazard way. I had seen this baby being born, I had handed him over to his father, he was going to become a doctor. Tay-Sachs is rare in our country—I had only studied it in books. My mind was bombarded with so many thoughts and feelings.
The chief doctor broke the bad news to Matthew. His wife began to howl, and he stood like a statue, so full of grief that even emotion had left him. “Are you sure there’s no cure?” he said almost mechanically, but the doctor shook his head. “I’m so sorry,” was the only thing that even a talented clinician could offer. The little boy had no chance of survival beyond a couple of years. I quickly turned away. I could not take it in.
A couple of residents and students were taking photographs of the child and I overheard their conversation. “It’s a very rare case. It’ll definitely get published and even the prize in the upcoming conference is ours,” they said with excitement. Nobody bothered comforting the mother who knew her son was going to die, or the father whose world had just ended. This shocked me even more. We are taught about empathy and ethics but it was not being put into practice. We claim to know everything about the human body, but a small gene can make us realize how little we actually understand. We declare that medical science has come a long way, but an ordinary fisherman father’s trust had been broken.
Maybe Matthew and his wife would have a healthy child one day. Maybe they would become parents again, and even grandparents one day. But as I climbed into my car to go home and removed my white coat, I thought about how many more times I would have to see a day like this, when we know what is wrong but cannot do anything about it. Or maybe, one day, when I have learned more myself, perhaps I will be part of a cure for a disease that is as horrible as Tay-Sachs.
It is going to be a long drive and I think it is time to start the ignition.
SHRUTHI RAVISHANKAR is in the second year of medical school at the Madras Medical College, Chennai, India. She has an excellent academic record, including placing in the top 5 of the country in the high school exit exams and has won awards and fellowships from several prestigious institutions across the world such as the Indian Institute of Science, the Royal Australian Chemical Institute, and UNESCO. She loves research, writing, debates, quizzes, literature, and world politics. She is trained in the Indian classical dances and music, plays the guitar, and knows 5 language.