November 2017. I was on my pediatrics rotation at a local community clinic. My attending asked me if I could see Johnathan (identifying information and event details altered to protect confidentiality), an eight-year-old boy who has been increasingly fatigued since the start of the school year. I walked down the hallway laden with paintings of Amazon animals and knocked on room #13.
“Good afternoon, Ms. Sanders. My name’s T.J., and I’m the medical student helping out today. Is this Jonathan?”
“Hi, T.J. Yes, this is Johnny. Sorry if he doesn’t talk much. He gets more tired as the day goes on.”
“Hey, Johnny! My name’s T.J. How have you been feeling, buddy?”
“I feel tired …”
“When did you start feeling tired?”
“I don’t know sir.”
Johnny immediately looked up to his mom and embraced her. A stream of tears silently fell from his eyes. I reached for a box of tissues and handed it to mom.
“It’s been extremely tough on him. We had to pull him from his afterschool football. Johnny told me that classmates are making fun of his sleepiness in class. His teachers are concerned because of his failing grades.”
“I’m so sorry Johnny’s going through this hard time. It must not be easy for him.”
“It hasn’t been, we’re just hoping we can find out what is going on soon.”
“I am hoping for the same. Who have y’all seen so far about this?”
“We’ve been to a few private docs, and they all say that he’s tired because he’s a kid doing kid things. Video games, TV — but the problem with that is we took his TV out of his room, and he is still feeling tired, even more now.”
When I walked out of the room, I went to my desktop computer and chart reviewed. Past resident notes from different clinics all state more or less the same reason for Johnny’s fatigue: playing video games, watching TV late at night, even being overweight. I knew deep down that I did not ask all of the right questions, so I walked back down the hallway of animals to room #13.
“Hi again, Ms. Sanders, but may I ask you a few more questions?”
“Sure, of course.”
“Thank you. Do you or dad have any history of blood disorders? Like sickle cell anemia?”
“Actually, yes. Not sickle cell, but I have beta thalassemia. I don’t have any of the symptoms.”
“That’s interesting. Do any other family members have thalassemia?”
“My father and grandpa had it and passed, and now you mention it Johnny’s aunt on his father’s side has the sickle cell trait.”
“Has Johnny ever been tested for beta thalassemia or sickle cell?”
“I don’t believe so, do you think that is what is causing him to be drowsy a lot of the day?”
“It could be a possibility. Give me a few minutes to talk with my attending, and we’ll come back to see you both.”
“So, T.J., what have you got?”
“Johnny’s an eight-year-old boy with a year-long duration of increasing fatigue. He’s seen past doctors without getting a conclusive answer. But after talking with Ms. Sanders, it is possible he is anemic based on family history.”
“Wow. So no one has looked into a possible genetic cause before today?”
“Not until now — here is the family tree I drew with Ms. Sander’s help.”
Dr. Connors took a hard look at the tree and looked back at me.
“So, I guess this isn’t late-night TV binges or video games that are making this child fatigue easily. It’s unfortunate that doctors didn’t pick up on a genetic possibility from reading his past notes. So, what do you want to do for Johnny?”
“Right now, I would recommend diagnostic testing: blood work with DNA analysis to check for thalassemia and sickle cell. Avoid foods heavy in iron and any iron supplements as a precautionary measure if Johnny has thalassemia. Also, to get a flu shot today.”
“I agree with your plan, let’s go talk to the mom.”
“Hi, Ms. Sanders. This is my attending Dr. Connors. May we speak with you for a bit?”
“Yes, of course! What do y’all think is going on?”
“We suspect that because of your family history with thalassemia and sickle cell trait — it could be something abnormal with Johnny’s blood that is causing him to feel more tired than normal.”
“That would make sense … I guess I haven’t thought about that as a possibility since no one in the family has symptoms, but many of us have it if that makes sense.”
“That makes sense. Sometimes a person may have a condition and not show physical symptoms. For others, the symptoms do manifest. But we have a plan.”
After I shared the plan with Ms. Sanders, she enthusiastically agreed and hugged us.
“Thank you both so very much. Hopefully, Johnny will get better.”
“We’re confident he will. Let’s follow up in a week or so once we get the lab results back. We’ll give you a call to schedule.”
As I saw Johnny walk down the hallway of animals clutching his mom’s hand, my heart melted.
This was the first time something taught to me in the lecture hall may have saved this young child’s life. This was the first time I felt I truly helped a patient, and it was at this juncture I decided to go into primary care. Whether that be family medicine, psychiatry or pediatrics I am unsure. But what I do know is that I want to build long-term, meaningful relationships with people of all ages, of all races/ethnicities, and from all backgrounds. The most selfish thing you can do is to help others. Selfish because it is gratifying to help others in any capacity that a human being can for another.
Ton La, Jr. is a medical student and student editor, the New Physician.
Image credit: Shutterstock.com