The series follows Dr. Lisa Sanders as she attempts to help patients with rare illnesses and searches for a diagnosis and cure using wisdom of the crowd methods.
Sanders grew up loving the idea of mystery and became fond of Arthur Conan Doyle’s fictional character, detective Sherlock Holmes.
Produced by the New York Times, each episode follows Dr. Lisa Sanders as she seeks to diagnose patients with difficult symptoms.
The physicians in Italy submitted her genomes into a sequencing trial that could take up to two months to process but could hopefully result with a diagnosis.
After the two months, Angel receives a call from the Physician with a complete result and a solid diagnosis of Carnitine Palmitoyltransferase II Deficiency.
Rasmussen’s Encephalitis, explained by Dr. Lisa Sanders, is characterized by the chronic inflammation caused by T-Lymph white blood cells to invade half of the brain and destroy it.
Dr. Lisa Sanders took a look at Willie’s MRI scans and noted a huge lesion at the base of his brain with finger-like deterioration rooting up from it.
Dr. Sanders says that one of the biggest reasons that his condition is hard to diagnose is because it has very similar symptoms to a lot of common brain disorders, with no response to steroids.
When Dr. Sanders brought this idea to another physician for a second diagnosis, they highlighted key similarities of symptoms between Willie and the Gulf War Illness despite his being much more severe.
Willie and his wife go to visit a Marine Veteran who was diagnosed with Gulf War Illness to be able to relate any similarities and narrow down the possibilities.
Kamiyah Morgan is a 6 year old little girl who suffers from a very unusual set of fainting episodes that will leave her unresponsive and immobile, and they can happen up to 300 times a day.
When she experiences a fainting episode she will become completely paralyzed affecting everything in her body including her lungs, her mother states that every day that passes her ability to breathe diminishes.
They were then referred over to the NIH or the National Institute of Health where their entire purpose is to be able to research and hopefully diagnose very strange cases.
Once Breteni received the results it was shown that Kamiyah had a break in a gene that wasn't inherited from her mother or father, it created itself.
There was also a scientist who reached out to Dr. Lisa Sanders, who had based the last 20 years of her career on researching the specific ion pathway for the KCNMA1 gene.
The scientist goes into detail about the gene and how it regulates the amount of potassium that enters the cells and as a result this affects the brain wave levels corresponding to movement and in theory would create the fainting episodes.
Kamiyah as well as all the patients found through the column became the breakthrough needed to begin proper human research towards a diagnosis and treatment of the gene mutation.
While Kamiyah was not able to technically receive a diagnosis for her illness, she created the pathway for research into possible treatments for patients in the future.
The audience came up with three general groups of possibilities, she could have a parasitic infection caused by the raccoon attack, POTS, or Rumination syndrome.
POTS also known as Postural Orthostatic Tachycardia Syndrome is essentially a problem with the nervous system, specifically the nerves that control the blood vessels causing improper circulation and rapid heart rates resulting in dizziness, light-headedness, and at times vomiting.
Specifically his symptoms include a sense of tingling in his head that is followed by light-headedness, nausea, heart palpitations, loss of control, and then finally the Deja Vu before he faints.
The first possibility was Vasovagal Syncope, where the nervous system will send an incorrect message too slow down the heart and can cause it to stop, the tilt table test performed on Matt could provide a definitive answer to this theory.
To help Matt out with the stress and psychological aspect of his illness, he was referred to a psychiatrist at Johns Hopkins that started him on cognitive behavioral therapy.
When she brought this up to her primary care physician, he explained that she had full right side facial paralysis and needed to visit the emergency room as she might be having a stroke.
When she got to the emergency room, her facial paralysis was coming in and out, because of this she was placed into the stroke ward for observation and a CAT scan and MRI was ordered that resulted negative.
When reaching out to Dr. Lisa Sanders, both Joe and Ann had already been tested and ruled out for dozens of diseases such as Multiple Sclerosis, Parkinson's, and Lupus.
Dr. Lisa Sanders published both Joe and Ann’s stories on different columns to gain different traction from the audience and to not create confusion.
The two most reasonable possibilities are CIDP, Chronic Inflammatory Polyneuropathy, aka Guillain-Barre syndrome or the paralysis is a side effect of the clinical drug, Ibrutinib, he is taking to control his blood cancer.
Since Ann is very much a skeptic when it comes to western medicine she did not take the thought of a functional neurological disorder lightly, she immediately denied the possibility and moved on to get tested for Lyme disease.
Even with this evidence in front of her Ann kept denying the possibility of having a Functional Neurological Disorder, yet she still received a call from Dr. Schneider who may be able to help her get closer to a diagnosis.