Diagnosis

[maggiegil]

I've just finished the last of the 7 episodes and was interested to hear what other people thought about it  but I seem to be the first one!

I thought it was such a cool idea for a show, interesting but didn't feel exploitative. Dr. Lisa Sanders was a great presenter, interesting fact I found out when I looked her up, she didn't become a Dr until she was 41.

I've never had anything serious wrong with me, I wouldn't know how on earth to start navigating the system if I had something rare.

Ep 1: So glad she got a diagnosis and amazing that diet can fix such major symptoms. You could tell her Father loved her but he was so mean to her at points.

Ep 2: When they were testing for Lyme I actually shouted at my computer "Theres no way its Lyme. Stop wasting time". I was shocked when she proved so positive for Lyme and wonder if they should have continued the antibiotics longer or done a different type of treatment for it. The community aspect was a great feature I thought of the crowd when the Mother was able to chat with someone else whose child had had a hemispherectomy at the same age, so she was able to see even the worst case scenario could be good. I hope the brain implant is stopping the seizures and we get an update on her. She was such a smart funny little girl in spite of everything, the "ooh la la" and the "so its like a curse" when her Mother explained side effects really made me laugh. They didn't seem particularly affluent so I was expecting money to be a factor like it had in Ep 1 as I imagine the device and treatment for that would be more expensive than the hemispherectomy but I was glad it didn't seem to be an issue.

Ep 3: Its good that the VA will be able to help and give support now its known its related to his service and again that he has community.

Ep 4: My heart broke for Kamiyah, again such a sweet little girl, shes very lucky to have a Mother who is able to advocate so well for her. I get so mad when entities won't admit they screwed up, the NIH really dropped the ball with her case. It happens, in the case of big entities but admit your fault and put other systems in place so it doesn't keep happening. Again an even more powerful part of the crowd apart from diagnosis is community. It was so cool was it that a scientist had been studying this gene for so long and suddenly got to connect with a group of patients all with different variations of the gene mutation. It was lovely that the show facilitated them meeting the Danish family. It must be terrifying to be a parent to a child with a collapsing/seizing disorder (just like in ep 2) and not wrap them in cotton wool, it was so beautiful of the Mother to say that she wouldn't take away the joy in her life just to stop it happening.

Ep 5: I don't really know what to think about this one, I really felt for her but I didn't understand why she wouldn't try and see if the treatment for rumination would work. I hope she does go to the program in Ohio eventually, it seemed like it could potentially be a cure and didn't seem invasive like the spinal injections. Even if breathing through her diaphram might make her feel temporarily sicker, it didn't seem like a reason not to try.

Ep 6: Amazing what stress can do and great he was able to potentially lessen it through talk therapy. There were so many issues between him and his Mother, you really could cut the tension with a knife when they were together.

Ep 7: Joe- what a catch 22 if the medicine keeping your blood cancer at bay is paralyzing you. Hope he gets his mobility back and is able to keep the blood cancer from reoccurring

Ann- I couldn't believe it when she went to her Dr and he told her you're having a stroke go to the hospital and didn't insist on an ambulance or even a taxi, it was so lucky she didn't have an accident, it could have been so deadly especially on the motorway. Frustrating that shes searching for a diagnosis on her own rather than pursuing the functional neurological disorder diagnosis the crowd proposed.

Really interested to hear what others think. Hope it gets a season 2 and we get a follow up on season 1's patients

[bourbon]

This was an interesting concept. But ultimately, for me, disappointing? Frustrating? I guess i was expecting something very uplifting and tear-jerking (in a good way), but it...wasn't.

Ep 1. I thought it was pretty smart to start with this episode where the girl got a definitive diagnosis and treatment. Although, it did set me up for disappointment with the rest of the eps where the diagnoses weren't so clear cut. Also, her dad was jerk complaining about he had symptoms, too, and how disappointed he when she said she didn't want to have kids if it was genetic. Pssst. Dad. IT'S NOT ABOUT YOU.

Ep 2. Sadie was adorable. I'm not sure where they came down on this, and I guess this was one of my frustrations with the whole series. Was her condition caused by untreatable Lyme's? Did she even have Lyme's? I was curious about the mom and dad. They seem like an unlikely pair. I'd be curious how they met.

Ep 3. Again, I guess I was hoping for more resolution on his case, but it seems like other than perhaps being eligible for VA services, he's not really in any better position than he was before. He's still losing his memory. He's still symptomatic with no treatment in sight. It was just depressing.

Ep 4. Another one that was depressing. It was great that Kamiyah and her mom were able to get some answers and to find a support community, but how sad was that for the mom to see her daughter's future? No cure. No treatment. Sad.

Ep 5. This one annoyed me, and the doctor was much more patient with the mom than I could have been. And I know you take your patients as you find them, and she didn't deserve to be sick, but the tragically-named Lashay, with her mean girl whine and ever-other-word-"like" was annoying. I can't believe, distrust of the medical community or no, that they turned down an offer of help for their daughter who vomits ALL HER FOOD. Frustrating.

Ep 6. Hooboy. This one. This one was like watching an episode of Teen Mom of Honey Boo Boo. And I'm not really sure, ultimately, what his diagnosis was. Did he have epilepsy or not? If so, was it triggered by anxiety? And the deja vu...was he experiencing "fake" deja vu? Or was he just reliving watching the Flintstones because it reminded him of a traumatic time in his life. 

Ep 7. Maybe I just had fatigue by the time I watched this one, but here's another one that frustrated me. Ann literally had the world at her finger tips...and she turned it down. I would not have realized she was African-American if she had not said so. 

I guess it was an honest look at medical cases. Not all patients are adorable kids or saintly adults. So it was honest and interesting. Just not all that enjoyable for me. 

[kieyra]

@bourbon, thanks for taking the time to write this up. I was intrigued at first, although the reality show setup was a little annoying. (“And the diagnosis is ........”) 

I was really coming to post and ask if anyone has any idea why Angel (episode 1) had to go to another country for testing? I admittedly skimmed some of it, just find it hard to believe they couldn’t run the same labs in the US. And yes, her dad was the goddamned worst. 

But anyway, now that I’ve skimmed through your synopses and found out most don’t have a real resolution, mehhh. I was genuinely hoping this was going to be a show with some optimism, the upside of social media/crowdsourcing info in these dark times, and maybe some cool mystery-solving gratification. 😕

Edited August 22, 2019 by kieyra

[maggiegil]

I honestly went into it expecting a diagnosis rate of about half so I thought they did really well, it was never going to be like on House where the anomaly can always be diagnosed and usually fixed.

On ep 4 where they talk to the NIH, they said that their rare disease program has a 50% diagnosis rate.

9 minutes ago, kieyra said:

I was really coming to post and ask if anyone has any idea why Angel (episode 1) had to go to another country for testing? I admittedly skimmed some of it, just find it hard to believe they couldn’t run the same labs in the US. And yes, her dad was the goddamned worst

It was genome sequencing so it definitely could have been done in the States and I'm sure Dr. Sanders probably could have done it at her hospital but the Italians offered to do it for free which was probably a Godsend given how much medical debt Angel was in. I wasn't sure how that worked, the show didn't seem to be paying any of the medical bills as far as we were told but I imagine they paid for her trip to Italy and I imagine the ep 4 trip to Denmark.

1 hour ago, bourbon said:

Did he have epilepsy or not? If so, was it triggered by anxiety?

They couldn't find the epilepsy on a brain scan if I recall correctly but said that temporal lobe epilepsy brought on by stress which is what they diagnosed him with wasn't always detectable.

[LeGrandElephant]

I always liked Mystery Diagnosis. Trying this show, and so far it seems very very slow moving. 

[Whimsy]

I love this show. I work at a medical school and work with a lot of researchers. I support the tenure process for our faculty, so I am in contact with researchers across the country. I always watch all of the dr names to see if I recognize anyone. So far, no but you never know!  (Probably won’t know anyone lol, but I can’t help but hope). I haven’t watched any other diagnosis shows. 

Im on the episode with the little girl with the KCNMA1 gene. I put was so weird to me that the NIH 1. Completely fucked us and let 2 years go by without giving the diagnosis and 2. Weren’t all over her case if it was so rare. I would think they’d be all over getting a paper out about this rare disease. I really liked that researcher in Maryland. 

[Melina22]

I've seen 5 of the episodes so far. Random thoughts... 

Episode 1. I remember thinking how fortunate she was that she had the bizarre symptom of black urine. Without that, her pain could easily have been dismissed as psychosomatic. The boyfriend was lovely. The father was toxic. So happy she got a useful diagnosis. 

Episode 3. This is the first time I've ever seen anything about how prevalent Gulf War syndrome is. Very sad, but so vindicating and encouraging for him to finally have a community. 

Episode 4. I was so moved by the trip to Denmark, and how much comfort it gave both families. 

Episode 5. Yeesh. There are some issues in this family! Near the beginning, it was implied that the family and the medical community had butted heads a lot, and by the end, I wondered how insanely frustrating the mother had been to deal with. I'll bet the doctor had plenty he wanted to say but couldn't. 

A clue right away for me was her comment about being a "mama bear defending her cubs." Sure, it sounds noble and selfless, but in my experience, any mother I've ever known who likes to use this expression, has a lot of aggression and control issues. The body language between her and her daughter was confusing and fascinating. And it was insanely frustrating that first the mother and then the daughter turned down free, expert assistance in favour of... doing nothing. Very strange. There's a lot more going on there than meets the eye. 

Episode 7. How is the dentist so even tempered and optimistic? I admired that family and how stable they seemed, and how well they're coping. 

The woman in the episode made me almost as frustrated as the family in episode 5. For some reason, she also turned down free, expert assistance. Seemingly because she'd decided, against medical advice, that she did not have what they were suspecting, end of story. She mentioned being African American and a woman many times in a defensive way, like she'd convinced herself that because of this, she had zero chance of receiving proper treatment and was going to have to help herself. I'm sure she has had bad experiences that led her to this conclusion, but in the end, I don't think this belief is serving her well. Plus why go on this show, then turn down free medical help? 

This series has been quite the roller coaster for me. I like the presenter and the concept though. Maybe it's not realistic to expect each episode to be neat and tidy. 

[Whimsy]

4 minutes ago, Melina22 said:

Episode 5. Yeesh. There are some issues in this family! Near the beginning, it was implied that the family and the medical community had butted heads a lot, and by the end, I wondered how insanely frustrating the mother had been to deal with. I'll bet the doctor had plenty he wanted to say but couldn't. 

A clue right away for me was her comment about being a "mama bear defending her cubs." Sure, it sounds noble and selfless, but in my experience, any mother I've ever known who likes to use this expression, has a lot of aggression and control issues. The body language between her and her daughter was confusing and fascinating. And it was insanely frustrating that first the mother and then the daughter turned down free, expert assistance in favour of... doing nothing. Very strange. There's a lot more going on there than meets the eye. 

This!  I was SO frustrated with that mom. You can tell she controls EVERYTHING. I don’t think she has munchausen by proxy, but she definitely revels in being in charge of Lashay’s medical situation. She’s poisoned Lashay’s own opinions of the medical field, too, so that even at 18 she hasn’t gotten help. How is suffering better than just TRYING to get help!?!?  I do understand being frustrated with the drs they’ve worked with in the past, I do. I am confused how the dr presented the diagnoses of Rumination Syndrome. (They made it sound like he presented it as a psychological disorder when just a very rudimentary search gave me this: “Rumination syndrome, or Merycism, is a chronic motility disorder characterized by effortless regurgitation of most meals following consumption, due to the involuntary contraction of the muscles around the abdomen.”  Which means it’s obviously physical. I think he said one word that they misconstrued and immediately dismissed this dr.  OR, she is SO convinced it’s a parasite from the raccoon that she won’t even consider that yes, that helped trigger the syndrome but it’s not the actual cause. I have never been so frustrated with a parent before.  She’s literally harming her child.  Someone needs to do an intervention.  I just googled Lashay and found this article that states that as of like 4 days ago, she still hasn’t sought treatment and has just “come to terms with being sick”  ugghhhh

[Melina22]

31 minutes ago, Whimsy said:

I just googled Lashay and found this article that states that as of like 4 days ago, she still hasn’t sought treatment and has just “come to terms with being sick”  ugghhhh

I found the scenes of her throwing up AT THE DINNER TABLE, then eating again, and going to school and lying on the floor to take notes to be very disturbing and baffling. Like it's a bizarre mix of physical and psychological issues happening. This is what she prefers over getting treatment? Really? Even though she has a port that could kill her at any time?

The dynamic between her and her mother could be a basis for 7 episodes by itself! (I wouldn't watch though. Too infuriating.) The father seemed to be mostly an observer. I sense his opinion isn't sought much. 

We usually hear these stories from the patients' side. This episode gave us some insight into what the medical staff have to deal with, probably more often than we know. 

[iggysaurus]

Agree with everything you guys have said about Lashay's case.  Just bizarre.  If I was throwing up literally everything I ate, I'd try anything that might help me get better. 

Same with the woman in episode 7 whose last update was that she was choosing to figure out her issue on her own.  Really? Your whole right side randomly becomes paralyzed, including going blind in that eye while driving, and you don't want to accept the help of someone who might be able to treat it? She struck me as that very opinionated type who is convinced she knows more than doctors just because she's read things online.  I also think she was over-inflating the whole "doctors won't listen to me because I'm a black woman" thing. 

Both Lashay and Ep 7 woman (Ann?) wanted so badly to believe that their issues were caused by an animal or tick bite. Everyone seemingly wants to think they have Lyme disease or some other environmentally-caused illness.  It would be nice to have such a straightforward, simple cause identified, but in reality those are probably very rarely the cause of these mysterious illnesses.  

I liked the show overall, but to me the actual medical mysteries were more interesting than the social/cultural dynamics they apparently felt compelled to highlight.  Instead of including more cases that may have had a definitive (but highly unusual or complicated) resolution, they chose to include a few cases that were more about the patient's social, mental or familial struggles. Which I know is important too, but just not as interesting to me.  

[Duke2801]

You all seem to have already summed up my feelings and frustrations about Lashay and her mom, as well as the woman in episode 7. BOTH of them seemed to be rebelling against any diagnosis that could potentially be deemed as psychosomatic—even though they BOTH would have likely benefited from the treatment and behavioral therapies recommended. Like, what could it possibly HURT that episode 7 lady from trying the occupational therapy??? Sheesh Louise!

Angel’s dad sucked, and her mom wasn’t much better. I get that it’s hard and frustrating to see your loved one—especially your child—suffer. I’m sure it’s devastating. But you vent to each other...to friends.. support groups. NEVER to the sick person. Ugh. Fortunately her boyfriend was understanding and supportive. I’m glad she got a diagnosis and is improving. 

[GaT]

I found this whole thing baffling. I expected people finally getting a diagnosis & then go on to treatment. What I got was people finally getting a diagnosis, not being happy with it, & doing nothing. It felt like a waste of time to me.

[jaigurudeva]

On 8/27/2019 at 12:42 PM, iggysaurus said:

I liked the show overall, but to me the actual medical mysteries were more interesting than the social/cultural dynamics they apparently felt compelled to highlight.  Instead of including more cases that may have had a definitive (but highly unusual or complicated) resolution, they chose to include a few cases that were more about the patient's social, mental or familial struggles. Which I know is important too, but just not as interesting to me.  

This was my whole takeaway from the series. I wish they'd focused less on the patients' struggles and more on the empirical analyses in their illness and finding the right diagnosis (since, you know, the show is called "Diagnosis"). Give me a breakdown on why "The Crowd" brought up certain illnesses, describe the causes and symptomology of those illnesses, explain the differential diagnoses and why they didn't fit the symptoms or test results of the patients. A lot of it was handwaved away by Dr. Sanders just saying, "The crowd came up with X, X, and X, but the patient's doctors have already ruled these out." How and why? I'm much more interested in the actual biology, not the drama, especially when so many of the patients and family members were insufferable. 

[fountain]

I think in cases like episode 5 -the vomiter, there is something they are all getting out of identifying as a family with the challenge of managing a chronic illness. Even with more known chronic illnesses there are people that caught up in “the attention” of the illness. If you get “cured” you become a regular person/family again.

The show was interesting in the sense that it highlighted (at least for me) that some people like the young woman in episode 1 and the vet don’t have access to great health care due to finances.  It is unfortunate for the vet that no doctor even suggested getting any coverage for anything through the VA. When my husband was diagnosed with a serious illness we met with social workers to go through options for access to financial support but I make a good income so that was not necessary so we had one meeting to tell them financially we are fine. But I can see how this is good for others as people don’t know what support is accessible and they don’t know how to apply for it.

eta: I think Lashay will push for treatment when the illness has more effects on her appearance. She is very pretty and at some point here her teeth with not be able to handle all the stomach acid. She is much to young to just cope with her illness that does have a possible treatment.

Edited September 21, 2019 by fountain

[threebluestars]

I think Lashay and her family were at the point where they identified as the disease, and getting better means not identifying as the one thing that has made you unique and the subject of so much attention. I think being sick has become her personality and her mother's job.

Ann was much the same. I think she has become her illness. It's just very sad in her case that she's not even willing to try to prevent her daughter from being in tears seeing her on the floor. The fact she's willing to stay sick and potentially traumatize her child because of it really rubbed me the wrong way.

[jabRI]

I don't understand how Lashay would not even TRY to get better.  She can't even walk down a hallway, she practically crawls everyplace.  You don't learn to live with this, you need treatment.  How bad could being on a feeding tube for a few days be, and then a few months under skilled (not your mama) care be worse than what you've put your whole family through for years.  Her sister was smart, the mom and Lashey weren't even interested in connecting with any of the responders.  Why go through the whole process?  She's never going to get out from under her mother at this rate.

 

[SunnyBeBe]

On 8/23/2019 at 8:16 PM, Whimsy said:

I love this show. I work at a medical school and work with a lot of researchers. I support the tenure process for our faculty, so I am in contact with researchers across the country. I always watch all of the dr names to see if I recognize anyone. So far, no but you never know!  (Probably won’t know anyone lol, but I can’t help but hope). I haven’t watched any other diagnosis shows. 

Im on the episode with the little girl with the KCNMA1 gene. I put was so weird to me that the NIH 1. Completely fucked us and let 2 years go by without giving the diagnosis and 2. Weren’t all over her case if it was so rare. I would think they’d be all over getting a paper out about this rare disease. I really liked that researcher in Maryland. 

I hate I was delayed in finding this series.  I’m about half way through it now.  I intend to post some of my impressions and questions soon. I hope some of you will return here to comment.  

[SunnyBeBe]

Finally caught up.  I’m a medical sleuth, so enjoyed this series.  
 

I’ll start with Episode 6.    Matt, claimed to suffer with Deja vu and his heart stopping.   My question is who told him his heart stopped beating initially?  His grandmother said she didn’t get a pulse on that one occasion.  So she was able to pull off the road, check his pulse in the 6 seconds his heart stopped?  Really wild.  One thing I noticed that they didn’t mention was that his mother appeared to have an involuntary tic….she did it twice when talking to the camera.  Is it Tourette Syndrome?  Is this related?  Also, I thought of Conversion Disorder, which is also known as Functional Neurological Disorder. ( My father has that.  It can cause seizure like episodes based on some unknown reason. Lots of calls to 911 and ER visits due to this.  It is a real disorder, but brought about by non medical reasons.)  It’s considered a neurological condition, but seems to be triggered by psychological reasons. I wonder why the doctors didn’t explore it.  And, therapy helped him. That’s good.  I hope he realizes if you let toxic people stay in your life, you suffer.   
 

Episode 5. The teen who repeatedly vomits.  Sad situation, but obviously a psychological thing enabled by her mother.  I wonder if the home was investigated when she was a minor for Munchausen by Proxy Syndrome.  And, after age 18 for her well well-being as a vulnerable adult.  These would be my concerns.  Hopefully someone intervenes.  There seemed to be a real resistance to treatment there. Sad.  
 

Episode 7 (2 cases) First case, Joe, the dentist.  Was his peripheral neuropathy confirmed with Electromyogram, that measures damage to the nerves and muscles?  I never could figure that out.  Is there spinal cord damage? They glossed over how the doctors testing him almost killed him. How does that make sense?  So, he just happened to get a blood clot when in the hospital for tests….so, couldn’t that have happened, since he’s immobile?  What kind of tests were they doing and why do they say he almost died? How? Lots they didn’t provide.  I would question if he had Functional Disorder or some form if a psychological reason for the paralysis, especially since the feeling was returning to his foot.  I hope he continues to improve. 
 

Second case, Anne, was very resistant to her illness being Functional Disorder, which is very likely the case.  My mother has been diagnosed with it, in addition to Anxiety and Depression. Functional Disorder is not a moral issue. It doesn’t mean you’re crazy.  My mom accepts my Father’s diagnosis of Conversion Disorder, but she refuses to accept her own diagnosis.  I’ve noticed that people with conditions like that avoid a professional who could really help them and actual treatment that might hel.  They do seem to get something out of the attention of having the condition. That’s what I have noticed.  
 

Episode 4. Child who collapses.  Kamiya.  It’s good they made discoveries for that condition. Her mom needs to put a protective head covering on her when she’s out and about, especially playing on gym equipment. Best wishes for her future.  I hope the new meds help her. 
 

Episode 3. Willie with lesions in the brain.  My first thought was something from the Gulf War.  I can’t believe doctors didn’t immediately consider that.  

Episode 2. Sadie, child with mysterious seizures.  I was particularly interested because my niece suffers with multiple daily seizures due to Multiple Sclerosis Syndrome.  She was diagnosed at Duke age 2 months and they’ve tried everything except surgery and this Neuro pace device.  I’m sending a link for  this episode to her parents to explore it with Duke.  My niece has an electrical implant for a device, but I’m not sure it’s the same as the one shown on this show.  I pray Sadie sees continued improvement. 
 

Episode 1. Angel who has severe pain throughout her body.  I immediately thought of a nutrient precessing disorder like PKU. I wasn’t impressed with her dad. I can’t imagine dealing with him.  I’m so glad she got a diagnosis and hope she’s thriving by now.