The Netflix series “Diagnosis” Should Have a Season 2!
And you should watch it too!
What It’s About?
Dr. Lisa Sanders is a practicing Yale physician who also teaches residence. On top of that, she also has a column in the New York Times Magazine that shares about patients who have mysterious symptoms. Since the NYT Magazine has a global reach and influence, her articles can reach a global audience that can hopefully aid in finding a diagnosis for some rare afflictions.
Why it Piqued my Interest?
Diagnosis is the identification of the nature of an illness or other problem by examination of the symptoms.
A diagnosis is uncertain and has multiple answers. To get the ultimate diagnosis, we require extensive detective work.
— Dr. Lisa Sanders
I never knew that!
Whenever any of my close family members got admitted to the hospital, there was always a definite cause. Be it a heart attack, diabetes, or cancer. There is always a cause for the symptoms.
I am very naive!
Studying genetics and human biology for 3 years, I learned some rare genetic diseases. But I thought that with the availability of whole-genome sequencing, this diagnosis shouldn’t be a problem anymore.
I couldn’t be more wrong. So naturally, I ended up binging this series. hehe.
The Path to an Ultimate Diagnosis
How the process works:
- Dr. Sanders will be presented with many submissions on different medical cases.
- After she chooses a case, she’ll reach out to the patient and look into their symptoms, medical history and the whole shebang of their case.
- Dr. Sanders will write the article and get it published with the information she obtained. The article will provide a section for people to reach out with their possible diagnoses.
- Dr. Sanders and the patient will filter the responses together.
- They’ll reach out to the people who had similar experiences and symptoms as the patient in question.
- After this, the action taken depends highly on the patient.
My Favourite Episode
is Episode 1. The reason why?
Because a medical student, Marta Busso from Turin, Italy reached out to Angel Parker (the patient) who is from Las Vegas regarding her symptoms.
It didn’t stop there.
Marta offered FREE genetic testing to rule out any metabolic disorders for Angel in Italy.
The article reached its core purpose and was shown in Episode 1.
For context, Angel’s symptoms were primarily periodic muscle pains that might be triggered by exercising. Also, her urine changes colour to black (like coffee grounds).
During step 4 of the path to diagnosis, Angel was presented with a lot of possible diagnoses. She resonated most with two people who had 2 different diseases; the McArdle’s disease and CPT II deficiency.
The McАrdle’s Disease (Glycogen Storage Disorder)
- due to the deficiency or absence of an enzyme called myophosphorylase
- the body is unable to break down glycogen
- results in the body’s failure to access the backup source of energy
CPT II Deficiency
- the CPT II gene provides instructions for making an enzyme called carnitine palmitoyltransferase. This enzyme is essential for fatty acid oxidation.
- the body is unable to utilize the consumed fats
- triggered by exercise, a heavy fat diet or fasting
Long story short, the medical team from Italy ended up sequencing her whole genome and finding Angel her ultimate diagnosis.
She has CPT II deficiency.
I’m going to disclose the second reason why I like this episode. It portrays a critical problem.
The Real Problem
When Angel talked about her 10-year journey without a proper diagnosis, one has to eventually wonder, “Why was she not referred to a specialist?”
CPT II deficiency is rare because it is inherited in an autosomal recessive manner. But apparently, the symptoms were supposedly quite clear.
Below is a comment from an article about Angel Parker published by Refinery29:
I worked in Italy in 1993 and analyzed the CPT II gene in Franco Taroni’s lab. I wonder why it took years to diagnose her. The symptoms are ultra clear. I have CPT II deficiency myself and can say that it pretty straightforward to manage if you know what to deal with. Poor girl that she missed so many good years up to the diagnosis.
Angel resides in a first-world country. Her case speaks a lot of unresolved healthcare issues in America. It’s worrisome and baffling for a supposedly developed country to offer limited medical resources to its citizens.
The Conclusion; An Endless Labyrinth
Humans are complex beings that depend on the complex machinery that we’re blessed with upon birth. Our organs work tirelessly to maintain the homeostasis in our bodies. Sometimes, our cells even sacrifice themselves to ensure that we don’t contract any harmful afflictions!
But, despite having countless significant breakthroughs in medicine for the past century, some diseases remained puzzling to medical practitioners. Not all disorders аre taught in medical school. Some are still heavily researched.
Like COVID variants, there are probably many more rare genetic diseases that have yet been diagnosed. In this era of booming technological growth, we should utilize it to our benefit by working together despite the distance and possible limitations.
And yes, the other 6 episodes are so worth the watch.
