Thank you for joining me on the sixth week of The Diagnosis. Congratulations to those of you who correctly guessed Mason's diagnosis from last week's article, it was a tricky one! As described in the article, Mason was screened at birth, as all newborns are, for fatty acid oxidation disorders. His screening came out positive: Mason's body was lacking in certain enzymes that allow for the efficient breakdown of fatty acids for energy. For the most part, fatty acids are broken down for energy when our glucose supplies are low. As such, in many cases, this disorder is manageable by preventing fasting that could result in hypoglycemia (low glucose levels in the blood). Mason, who was exhibiting flu-like symptoms, was treated by his father with aspirin, a known trigger for Reye's Syndrome in children with underlying fatty acid oxidation disorders. Shortly following his ingestion of this particular NSAID, Mason began showing early signs of Reye's Syndrome. His continuous vomiting, extreme tiredness, and strange confusion were all suggestions that Mason had Reye's Syndrome. Fortunately, his father made the correct decision in admitting Mason to the hospital so quickly, and Mason recovered.
This week's patient, Ivan, is a 34-year-old freelance artist. He works in New York on everything from web design to murals. Every weekend, he makes the drive to New Jersey to visit his elderly mother, helping her clean and storing home-cooked meals for her to heat up and serve during the week. As she gets older, she needs more and more help around the house, and Ivan has been considering moving in with her, but she insists he stay in New York and focus on his career. Ivan, on the other hand, worries about leaving her alone during the week, but cannot bring himself to suggest she go into assisted living. His mother adopted him when he was 9-years-old, and he cannot help but feel that, after she took him in all those years ago, he owes it to her to care for her as tirelessly as she did for him.
Over the past several months, Ivan has been experiencing weakness and trembling, initially just in his dominant hand, but now in both. He wrote it off as muscle fatigue from time spent coding his latest projects. It seems his work has taken a dramatic toll on his body recently. His facial hair has thinned, and fat has accumulated along his chest. Ivan, who typically concerned himself deeply with his aesthetic presence (as an artist he was careful to maintain his fashion sense and to take careful care of his body) is perplexed by these changes, but the most distressing part is that his trembling hands have begun to interfere with his driving. This is especially concerning to him during his rather lengthy drives to his mother's home. He has had to pull over several times in the past few weeks and wait until the trembling in his hands subsided. Moreover, about a year ago, Ivan gave up his daily workout routine in favor of spending more time on his art. His mother has commented recently that his legs appear thinner on each visit, and Ivan himself has noticed that simply walking around the city has felt surprisingly tiring for his legs lately.
On his most recent drive to his mother's home, Ivan's right calf cramped severely, and he swerved off the highway. His car was damaged, but thankfully Ivan did not sustain any further injuries. Ivan's mother insists he see a doctor because these strange muscular problems cannot be normal.
Now it's your turn: Leave a comment guessing the patient’s diagnosis! If you have any questions, perhaps about the results from a test you as a doctor would run on the patient, feel free to pose those as well and I will answer to the best of my ability. I will not be replying to guesses about the diagnosis—only to questions about test results not listed here. Best of luck!
