Diagnosis

What really shocked me was to see how disconnected science from real life is. Andrea Meredith, a research scientist who spent her entire career investigating this particular gene: "I study KCNMA1 gene...for 20 years....unbeknownst to me, there had been a group of patients on Facebook, that all carry mutations in KCNMA1.." This is really shocking. How narrow focused minds of scientists are that in the year 2019 it never crossed their minds to see if there are people with mutations. It would have taken just few clicks on keyboard.

An interesting project, but an overstretched tv-show. Each episode could have been 20-30 min shorter. The drama is prolonged to the extent that it becomes boring.

Modern medicine and diagnostics nightmare "by the top specialists in the world".

1. The guy faints when he is SITTING and in the middle of discussing where to get coffee. He is NOT standing, his blood isn't pooled into his extremities, therefore not causing his BP to drop, he is not stressed. WE DISREGARD ALL that and still think it could be Vasovagal syncope.

Okay! Lets do Tilt Table Test.

2. "..typical scenario.... your blood pressure starts to drop...and his fainting caused by reduced blood flow to the brain...." , so TTT should show us what happens to his HR and BP when he is STANDING, BUT NOT TO THE FLOW OF BLOOD TO HIS BRAIN; remember, he faints in a sitting position.

In true Postural Orthostatic Tachycardia Syndrome (POTS), NOT VASOVAGAL SYNCOPE, a person faints while STANDING, BUT his BP remains NORMAL. Yes, HR goes up, blood pools into legs, BUT BP remains normal..and the person faints. In Vasovagal syncope, his BP DROPS. Who knows what is going on systemwide when a person experiencing Cerebral syncope.

3. In his case, he is investigated for Vasovagal syncope, not POTS. His doctor doesn't even mention POTS. Then he tells us that fainting is typically caused by reduced blood flow to the brain. Typically? Based on what ?? On assumption I guess. I don't see any transcranial dopplers (TCD) during TTT procedure. TCD is a non-invasive, painless ultrasound technique that uses high-frequency sound waves to measure the rate and direction of blood flow inside vessels. They don't use TCD during his TTT, yet make conclusions about blood flow!?!

4. So we have no idea if blood vessels in his brain constrict or dilate when he passes out.

The existing theories of cerebral blood flow autoregulation would have predicted a sudden cerebral arteriolar vasodilation at the time of syncope, in order to help preserve cerebral perfusion. Instead, what was uniformly reported was a sudden significant increase in cerebral vascular resistance (signifying arteriolar vasoconstriction) as measured by TCD, which occurred concomitant with the loss of consciousness. They even call it "A Paradoxic and Unexpected Response".

But it is not investigated in his (or most) case. So we don't know.

5. Did they consider association between Syncope and Myocardial Bridge? Myocardial bridging: A 'forgotten' cause of acute coronary syndrome. Was he investigated for that?

Yes, we all know stress exacerbate symptoms. But heart just don't stop beating out of the blue when a person is not stressed- playing board games or SITTING in a car and talking..

Lastly, why ALL cardiovascular test are performed when a person is in a supine position? People rarely, if ever, have a syncope or presyncope while being horizontal. To really know what is going on one has to replicate real life conditions, don't you think?

Fascinating, upsetting, encouraging. The poor people trying to find out what's wrong with themselves or their kids! It looks exhausting and overwhelming.

The crowd sourcing idea is great. Reaching out to the whole globe to get help. People are arguing; if it is not professional medical advice isn't that negligent? Well, sometimes it IS a Dr or med student replying, sometimes a member of the public, often thousands reply and offer suggestions. Who cares if they're professional if it's just a way of getting some more information and new options? The ideas that seem viable are followed up at hospitals to see if tests prove it one way or another and it has proven to be a life changer for some. Each episode could be 15 minutes shorter though as they do drag on a little.

What it does also show is how awful the health care system in USA is. People with extreme conditions that noone can diagnose being charged thousands for testing that proves nothing? I'm sorry but how far behind the times! Almost all first world countries have a free healthcare system for situations just like this and that's highlighted when one episode shows some testing done free in Italy. You can pay to go private but being low income doesn't exclude you from getting medical help in most countries. How sad to go bankrupt over medical bills when noone can help you! There are some lovely, helpful doctors but they're hamstrung by a flawed system.

However, the good outweighs the bad in this series. It shows strangers coming together from all round the world to help people who are feeling overwhelmed by their illness. A good use for the internet.

I just finished watching this, and quite a compelling series, a real life "House" where instead of a brilliant but quirky Doctor solving Medical Mysteries, you have Lisa Sanders and the Crowd doing it.

The episodes involving kids and the war veteran I thought were the most touching to watch. Some like the hardheaded ones not so much, but overall just awesome to watch, it gives hope, joy and sometimes lessons as well.

I hope there will be several more seasons of this from hereon.