Five years later and Netflix’s TV series Diagnosis still rings true

Apr 3, 2024

This week’s blog was written by our Digital Resources Manager, Blayne Baker.

Blayne shares her thoughts on the Netflix documentary, Diagnosis. The series follows Dr. Lisa Sanders, who supports patients living with rare diseases and their families on their journey to diagnosis and finding a potential cure.

Photo of Blayne Baker
Last year over the holiday break, I finally got the chance to watch Netflix’s TV series Diagnosis.

I’ve been a fan of Dr. Lisa Sanders’ column in The New York Times Magazine ever since I entered the world of rare disease in 2020.

After reading her articles and emailing her many Beacon press releases, I was ecstatic to see that she produced a documentary series based on her widely read column for Netflix.

Full disclosure: I was a little late to the party since her documentary was uploaded to Netflix in 2019, but watching it to start the New Year showed me that the rare experience is quite similar five years later.

Dr. Lisa Sanders is a Yale physician by trade and a longtime New York Times writer on the side.

Lisa knows that the right diagnosis opens the door to the right treatment and the right answers to questions that have haunted individuals and their families for years.

It was comical hearing Dr. Sanders’ preconceived notions about being a doctor because it’s exactly what many aspiring doctors probably think the experience will be like after graduation. Dr. Sanders, like many early doctors, believed that A, B and C always equals D as the diagnosis.

The more Dr. Sanders worked as a physician the more she realised that being a doctor is like being a detective – the clues often don’t add up or make sense. It’s why she compared being a doctor to Sherlock Holmes trying to piece together the right diagnosis!

What I love about Dr. Sanders is that she doesn’t shun the power of the internet.

Turning to Dr. Google is often strongly advised against when seeking a rare diagnosis, but Dr. Sanders challenges this stereotype by crowdsourcing diagnoses for mysterious and rare medical conditions.

She shares the personal rare journey of an individual and their family on her New York Time’s column and asks readers around the world to write in saying what they think the diagnosis could be.

When I realised that Dr. Sanders was crowdsourcing diagnoses from the general public, I’ll admit that the hair on the back of my neck stood up.

The general public isn’t a qualified doctor.

I was pleasantly surprised (and relieved) when it was revealed that expert doctors, nurses, medical students and those with lived experience all wrote in and contributed toward an individual and family’s rare diagnosis.

They had the experience, clinical and lived, to offer the valid insights Dr. Sanders, the individual and their family sought.

Crowdsourcing information from around the world was closing the gap on what rare condition this individual and family had!

Dr. Sanders said that the chance of getting a diagnosis was only as great as the minds in the room, but by crowdsourcing the expertise from around the world, the room just got a whole lot bigger.

Angel’s story

The rare journey that I watched from Diagnosis was that of 23-year-old Angel from Las Vegas, Nevada, who lived with an undiagnosed rare disease for close to a decade.

Angel had a long term, supportive partner and a family who were crushed watching her continually worsen without any rhyme or reason.

What broke my heart was seeing how Angel’s plight devastated her father. Although I don’t believe he handled her diagnostic odyssey well, I can’t blame him for the raw emotions he felt. He simply couldn’t articulate his feelings without causing offense.

Watching Angel experience excruciating pain and hearing that her doctors in America had no answers (or frankly any idea) of what was causing her flares saddened me.

What shocked me was learning that none of her doctors tested her for metabolic disorders or asked for a whole genome sequencing (WGS) genetic test to be done.

During my disbelief, I remembered that Angel’s story was filmed in 2019 when WGS and genetic testing weren’t done as routinely as they are today. That could be why it took close to 10 years for any clinician to mention WGS or that she could have a metabolic disorder.

It wasn’t until a clinician from Italy wrote into Dr. Sanders’ column with a potential diagnosis for Angel that she was finally on her way to receiving that elusive diagnosis.

Thankfully, this Italian clinician recommended that Angel fly out to Turin to be genetically tested, as they firmly believed that they’d be able to finally diagnose her.

The hope and fear riding on this trip was palpable through the TV. Angel and her partner would either be let down again or faced with a diagnosis. If the latter occurred, the question would suddenly become “Okay, what’s next then?”

What resonated with me was the deeply personal conversations between Angel and the camera, and Angel and her partner. Angel shared with the documentary crew that she always wanted to be a mother.

Having a family was all she ever dreamed about or hoped for in life, but with her undiagnosed condition causing her excruciating pain and an unknown future, starting a family was put on hold; potentially forever.

Angel said that if her diagnosis was hereditary, then she didn’t know if she could have a child knowing that she could pass her excruciating pain onto them. That level of agony wasn’t something she’d be willing to potentially inflict on her child.

Hearing this made me wish that she was in communication with a genetic counsellor who could help her navigate family planning. It was extremely hard to watch her discuss this unfathomable decision.

What almost brought me to tears was watching Angel and her long-term partner’s relationship. Angel’s partner was her rock and never faltered under the weight of her undiagnosed illness.

He was there for every hospitalisation, road trip and personal milestone.

Her partner found the positive in any situation, even during the darkest times when a positive was very unlikely to be seen.

Watching him break down in tears with relief and happiness when Angel got her long-awaited diagnosis brought me so much joy. The love they share for each other was so deep and pure.

At the end of the episode, I could only hope that they are now happy, pain free and the proud parents to many beautiful babies in Nevada.

If you haven’t done so already, I highly recommend watching Diagnosis. The series features seven episodes, the first of which is Angel’s story. I would highly recommend reading Dr. Lisa Sanders’ column in The New York Times and following her on X.

I’d love to hear what you think about Diagnosis so do get in touch with your thoughts by tagging Beacon on social media @RareBeacon!

Thank you to Blayne for writing this blog and for sharing her reflections on the documentary series, Diagnosis.

If you’re interested in learning more about diagnostics, check out our upcoming training series, Decoding Diagnostics.

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