A new Netflix series reveals the mysteries behind a good ‘Diagnosis’; episode 1 focuses on a rare fat metabolism disorder

On 23 August, Netflix unveiled a new show Diagnosis. Its underlying principle: the best diagnoses come from experience. And if we can tap into the experiences of doctors, paramedics, patients and friends of patients around the world, then we increase the chances of a correct (and timely) diagnosis multifold. Technology aids for medical science are breaking new ground every day. The show, conceptualised and anchored by Dr Lisa Sanders — an associate professor at the Yale School of Medicine, U.S., who was also the inspiration for the TV series House — is yet another example of how technology, specifically the Internet, is coming to the aid of medical science. [caption id=“attachment_7254191” align=“alignleft” width=“380”]  Representative image. Image source: Pixabay[/caption] Sample this: In episode 1, a 23-year-old woman who experiences episodes of excruciating pain is desperate for a diagnosis. She’s been in and out of hospitals for a decade, without anyone having a clue as to what’s ailing her. On the show, once Dr Sanders opens up the online “exam room” to the world, thousands of ideas pour in. Among them, the right answer: Carnitine palmitoyltransferase II  deficiency or CPT2 deficiency. CPT2 deficiency CPT2 deficiency is a rare genetic disorder - the world over, there are less than 1,000 documented cases. A fatty acid oxidation disorder in which the patient is unable to use long-chain fatty acids (like the ones in olive oil) to produce energy at the cellular level, symptoms of CPT2 deficiency appear after long periods of fasting or strenuous exercise. In the Netflix show, the patient, Angel Parker, had to give up sports because playing for any duration would land her in hospital. Fat metabolism 101 To state the obvious, the body needs energy at all times - even if you’re just sitting in an office chair reading about CPT2 deficiency. The body uses up carbohydrates, fats and, then proteins — in that order — to produce this energy. During periods of fasting and exercise, the body burns through the carbs quickly and then looks to fats for energy. In patients with CPT2 deficiency, the body fails to break down long-chain fatty acids. And when the body doesn’t get energy from fats, it goes after protein - including the patient’s muscles. Long-chain fatty acids contain more than 12 carbon atoms. Foods like olive oil, nuts, fish and meat have them. Peeing red Of the three types of CPT2 deficiency, two occur in infants and young children - these are almost always fatal. The third — myopathic type — can develop at any stage in life. In the show, Angel Parker had the myopathic type of CPT2 deficiency. Classic symptoms of myopathic CPT2 deficiency include myalgia or muscle pain, rhabdomyolysis or the breakdown of muscle and myoglobinuria which can manifest as protein in the urine (making the patient’s pee reddish-brown in most cases). In the Netflix show, Angel Parker had all of these symptoms. Management of this form of CPT2 deficiency through diet and lifestyle changes is relatively easy, it’s the diagnosis that trips us up. That’s where the power of the Internet comes in. Dot-com for health Luckily for Angel Parker, people around the world helped her connect the dots. By avoiding fatty foods and heavy exercise, eating regularly and taking supplements like vitamin B2, L-carnitine (an amino acid), she can live a close-to-normal life. She can also have children - a concern she had at the beginning of the show. Telemedicine and online medical services have huge potential. Especially in a country the size of India that has a vastly uneven spread of trained doctors in urban and rural areas. New social experiments like Dr Sanders’ ‘crowdsourcing’ for diagnosis may open up new frontiers in healthcare for India’s one billion-plus people. To quote Dr Sanders from the show: “Getting the right diagnosis is the most important thing you can do for a patient. You will never get the treatment right if you don’t have the right diagnosis.” Health articles in Firstpost are written by myUpchar.com, India’s first and biggest resource for verified medical information. At myUpchar, researchers and journalists work with doctors to bring you information on all things health. To know more on this topic, please visit  https://www.myupchar.com/en/disease/CPT2-deficiency