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.

I lack any critiques for this series, except perhaps that there are only seven episodes! I'm invested in these cases, and want to know how they end up; the stories are told in a beautifully real way although it allows you to view the intricacies and struggles in each situacion. Inspiring doctor as well, renewed my passion for my studies (healthcare, although a different field) with each episode that I viewed; truly a beautiful role model and such an excellent concept. Very well done.

Some of the cases are fascinating, and the presentation is fine. There is some interesting human drama to observe in the way patients and family members behave through the process as well. I think my primary issue with the storytelling is just that they haven't allowed enough time to elapse to actually assess whether significant progress was made. That left almost all the cases with a feeling that nothing had really been resolved other than more tests to arrive at no firm diagnosis Given the alleged concept of the show, it doesn't seem like that should have been the case. Time is often the friend of a great documentary, and more time to follow up on some of the cases likely would have made this more interesting.

The power of crowdsourcing to search for a cure for an impossibly rare disease! Dramatic, emotionally powerful. I've only seen the 1st episode and this is a winner! Not to be missed!