Thank you for sharing. I am 65-1/2 & just diagnosed May 1 (in San Diego California. ) Have you been approved for modulator therapy? I know ~10% of the people with pathogenic mutations and diagnosed don’t have a ‘miracle med’ yet. I feel lucky that both of my pathogenic mutations are covered. I begin at a small dose next week. Wishing you all the best 🙏

Colin, Did the any of the doctors give you a sweat test ? Did you suffer with sinus and lung congestion throughout life before your started to get very ill in Australia? Happy you have got your diagnosis and are doing well.

Colin - I hear your story .... have lived my own version.

What were your symptoms that you were experiencing? You seem to have skipped over that

Would have been better if you had specifics of tests in the video ! If there's one thing I can't stand is someone who's vague ! If you're making a video and go to the length of such, at least name the tests. Obviously wouldn't happen here in the eastern states. You would have been better off sending DNA to the USA and getting a quick response in several weeks. They do the entire sequence in a week or two. Yes, it costs, but far better than waiting a entire 9 years ! I'm wondering why in such a video you can't be specific or don't want to be, and didn't want to use your own initiative to figure things out ??? Typical brit. Can't talk about feelings