Diagnosis (2019 TV series)

''Diagnosis'' is a 2019 documentary streaming television series.
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. The show is based on her column for ''The New York Times Magazine''. It was released on August 16, 2019, on Netflix.

Author

Lisa Sanders was born on July 24, 1956 in South Carolina. Sanders grew up loving the idea of mystery and grew very fond of Arthur Conan Doyle’s fictional character, detective Sherlock Holmes. Sanders went to the College of William & Mary where she majored in English. After her graduation in 1979 she was hired by ABC News as a journalist. During her 10-year career as a journalist, Sanders won an Emmy award for her reporting of Hurricane Hugo yet she found herself drawn to stories that focused around both mysteries as well as medicine. After about 10 years of reporting Sanders decided to pursue a career within the medical field. She got accepted into the post-baccalaureate pre-medical program at Columbia University. After completing her pre-medical requirements she was accepted into Yale Medical School. She went on to complete her residency at Yale and became her class’ chief resident. Sanders became an attending internal medicine physician for the Yale-New Haven Hospital. As her new career progressed she became part of Yale’s Department of Internal Medicine while also teaching primary care at the school of medicine.

In 2002, a friend of hers working at ''The New York Times'' sparked a conversation about what doctors could provide in a literature perspective. This conversation led to an idea, and from this idea Sanders started writing a column for ''The New York Times'' called ''Diagnosis''. The column would highlight medical mysteries that she would encounter within her own patients as well as her colleagues, she would set up the stories as a mystery case revealing the diagnosis within the following week's column. The column then became inspiration for the 2004 TV series ''House M.D.'', where Sanders became a medical consultant for the show. Alongside writing her column for ''The New York Times'', Sanders has also written 4 books related to medicine. On August 16, 2019 a Netflix series titled ''Diagnosis'' was released and it follows Dr. Lisa Sanders as she looks to hopefully diagnose patients with difficult symptoms.

Cast

* Lisa Sanders - physician, narrator and columnist for ''The New York Times''.
* Angel Parker- A 23 year old nursing student from Las Vegas, NV. Her symptoms are expressed through severe muscle pain episodes that render her immobile.
* Sadie Gonzalez- A 7 year old little girl from Queens, NY. She suffers from frequent seizures causing physicians to suggest a Hemispherectomy as an only form of treatment.
* Willie Reyes- A 46 year old Army veteran from Vado, NM. He suffers from constant seizures resulting in memory loss and mood swings.
* Kamiyah Morgan- A 6 year old little girl from Vermillion, SD. She has very frequent fainting episodes where she will go limp and unresponsive, they can happen up to 300 times a day.
* Lashay Hamblin- A 16 year old high school student from South Jordan, UT. She is not able to keep down any foods or liquids, her symptoms mistakenly resemble that of Bulimia.
* Matt Lee- A 20 year old college student from Mt. Airy, MD. He suffers from frequent fainting spells that only come when he feels a sense of Deja Vu, these fainting spells will also cause his heart to momentarily stop.
* Joe- A 61 year old optimistic patient from Wallingford, CT. He was struck with a sudden and unexplained paralysis starting from his waist down, leaving him paraplegic.
* Ann- A 42 year old skeptic patient from Wallingford, CT. She has intermittent paralysis where she could spend days with the right side of her body immobile. She will then regain mobility but the paralysis always occurs again.

Episodes

Episode 1: Detective Work

Angel Parker is a 23 year old nursing student at the time of filming the episode. The earliest memory Angel has of the beginning of her illness was when she was 14, she remembers waking up in the middle of the night not being able to move. Since then her illness has progressed into daily severe muscle pain episodes, where the pain will start at the bottom of her legs and grow its way up to jaw. These episodes render Angel immobile for hours, her pee is pitch black, and very frequently she has to be admitted to the hospital. Angel expresses that any increase in physical strain or exercise will make her symptoms worse but she doesn't let that stop her from pursuing her athletic nature. Each time she is admitted physicians are unable to find a cause for her pain; She has been tested for Rheumatoid Arthritis, Lupus, Multiple Sclerosis, and Autoimmune diseases with all negative results. Angel’s story was sent to Dr. Lisa Sanders by a colleague, where she decided to take on her case in an attempt to help Angel find answers. Dr. Lisa Sanders published Angel’s story on her column, ''Diagnosis'', asking readers to help find a diagnosis for her symptoms. One big medical anomaly that physicians are able to record during Angel’s episode is a rise in her Creatine Kinase levels. Creatine Kinase is muscle protein that at this point for Angel is leaking into her body at high levels, her highest CK level recorded during an episode was 57 thousand U/L in comparison to average levels at 22-198 U/L.

After Dr. Lisa Sanders published Angel’s story, they received thousands of responses on possible diagnosis based on her symptoms. The most common response was the possibility of a Metabolic Myopathy that translates to a metabolic muscle illness and are usually caused by the muscle inability to breakdown nutrients and in turn the muscles begin to break themselves down for energy usage. As Angel gets closer to possibly having a diagnosis she starts to think about her future with children, she expresses that if her disease is something she can pass down genetically she wouldn't want to put her children at risk. A Medical student from Italy reaches out to Dr. Lisa Sanders and expresses her 4th year thesis on metabolic gene testing that could be beneficial in narrowing down a diagnosis. Angel takes the leap of faith and travels to Turin, Italy for both blood and urine testing. The testing showed that Angel had a normal metabolic gene profile resulting in the elimination of many possible metabolic disorders. 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.

Episode 2: Second Opinions

Sadie Gonzalez is a 7 year old little girl from Queens, NY, with a severe brain disorder. Sadie suffers from very frequent seizures that have resulted in a slight speech and mobility impediment. Her mother recounts the first time Sadie had a seizure being the morning of the 29th of December, when Sadie was 6 years old. The seizures stopped for two months and in late February Sadies seizures started to violently progress into daily visible seizures that will affect different parts of her body at a time. At the time of recording the episode, Sadie was having a motor seizure almost every couple of minutes. Sadie was admitted into the Columbia Presbyterian where multiple MRI’s were done showing no signs of brain damage or brain tumors. These results along with her symptoms led some physicians to believe she had Rasmussen’s. 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. The only sure treatment for Rasmussen’s is a hemispherectomy, where the corpus callosum is severed and separated the diseased side of the brain from the healthy side. Direct consequences from this procedure is loss of vision in one eye, losing the ability to move one entire half of her body, one can also lose the ability to speak. If Sadie actually does have this disorder and does have the procedure then half of the brain can spread into the second half, causing the brain to deteriorate.

The parents of Sadie reach out to Dr. Lisa Sanders in hopes of getting a second opinion, a different diagnosis, or a different treatment. Essentially looking for any route that could lead to a better life for Sadie that doesn't have to hinder her more than her disease hinders her now. Dr. Lisa Sanders put their story out onto her column and awaited for the responses. Many of the responses from the audience agreed with the diagnosis of Rasmussen’s, others suggested that the seizures could be controlled with electro stimulation therapy, and a third group suggested it was a neurologic version of Lyme Disease. She was tested for various diseases under different conditions and one specific test came back strongly positive, resulting in a diagnosis that led to a manageable treatment, and also a responsive neurostimulation device was implanted by a neurosurgeon.

Episode 3: The Wisdom of the Crowd

Willie Reyes is a 46 year old Army Veteran who is slowly losing his memories as a result of frequent seizures. Willie’s wife recounts the first time he had a seizure when he was 44 and he just fell to the floor one day without any explanation. Since the first seizure, he has developed multiple brain lesions, progressive memory loss, hearing loss, and violent/emotional mood swings. Willie says that because of his memory loss he forgets a lot of things and constantly repeats himself, making him feel like a child. He tells his biggest fear being waking up one day and completely forgetting about his family. His daughter highlights the fact that recently he's been starting to forget major memories, from her childhood such as her birth. 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. She has a theory that the deterioration reaching the memory region of his brain could be the reason for his memory loss and mood swings. His wife states that in June 2019, he had a biopsy done with a piece of brain matter and the results came back as having unspecified inflammation. 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.

Dr. Lisa Sanders took out to publish Willie’s story and awaited the response with a possible diagnosis. Dr. Sanders expresses her disappointment in the fact that even if they are able to find a diagnosis or treatment for his illness, he may not be able to recover all the memories he has already lost. From the hundreds of responses Dr. Sanders highlighted 2 very interesting possibilities one caused by a virus and the other caused by an autoimmune disorder. The first possibility is Progressive Multifocal Leukoencephalopathy that is caused by a virus and destroys the brain's ability to translate information. The second possibility is a very rare autoimmune disease by the name of Neuro-Behcet’s that causes inflammation and ulceration in different types of the body. Neither of these diagnoses seemed to fit Willie exactly because of key features such as Willie’s very strong immune system and the fact that he had no response on steroids. Due to Willie’s background in the Army, the suggestion of the Gulf War Illness was brought up. 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. The idea of the Gulf War Illness was tossed around as a possibility and brought up to many Physicians for second opinions, each one highlighting his symptoms are much more severe, and suggesting the possibility of testing for further clarity. To better understand the chances of Willie having GWI, they need to know if he was exposed to the toxins present during the Gulf War. However, the military provided him with no records of any medical discrepancies caused by actions during war. If Willie was to be diagnosed with Gulf War Illness he would not have a course of treatment, he would have to learn to cope with the disease until a treatment becomes available in the hopeful near future. 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.

Episode 4: Looking for a Village

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. Kamiyah’s mother said that these fainting episodes started when she was about 8 months old as she would be crawling and suddenly tip over and go limp. At first their pediatric physician said the episodes looked like she was having a seizure, but after running an EEG there was no seizure being detected during the episodes. They then tried testing with MRI for any brain tumors or malignancies but again there was nothing. 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. They NIH tested every system and every symptom and they were unable to find anything, they submitted her blood in for testing and they have yet to hear of anything from them for over two years. When Dr. Lisa Sanders asked the NIH for Kamiyah records; they were reluctant to release them even though she had her mother's permission, very shortly after this interaction Breteni, Kamiyah’s mother, received an email from NIH to discuss Kamiyah’s results. Breteni was upset over this interaction because it took them two years to be able to come out with her daughter’s results and only after an interaction with Dr. Lisa Sanders. Dr. Sanders believed this was because they might have initially forgotten to share the results and didn't want to ligate any misinterpretations. 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. Specifically a break within the KCNMA1 gene, and she was the first patient of her kind, she's “groundbreaking”. The NIH said that it would take more patients with the same illness and a doctor to “peg” it to be able to create a disease grouping for diagnosis.

When Dr. Lisa Sanders created the column for Kamiyah, instead of asking for the readers to chime in for their diagnosis, she went out looking for readers who would have the same symptoms/gene break as her. From the publication of the column, Breteni was able to find dozens of people who themselves or their children had the same KCNMA1 gene mutation. 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.

Episode 5: A Question of Trust

Lashay Hamblin is a 16-year-old high school student at the time of filming the episode. She suffers from an illness with similarities to Bulimia, only she has no control over her actions. Everything that Lashay eats or drinks is almost immediately thrown up and she had very bad stomach cramping because of it. She expresses her bad experience with physicians who did not want to diagnose her because at only 16 years old she shows an almost exact reflection of an eating disorder. During her adolescence in 2014 her family went on a trip to Costa Rica where she had an encounter with a wild raccoon that tore at her skin. When she got back home from the trip only two days later she had severe symptoms of vomiting, headaches, neck pains and stomach pains. At first physicians thought it was rabies and immediately gave her the rabies vaccination, this however made everything extremely worse and all her symptoms progressed. Since that day in the emergency room she has yet to recover or improve from any of the symptoms. She's not able to walk straight up, sit in a chair, and has a constant throbbing