Just got diagnosed at 54yrs. Pancreatic sufficiency but very thin! "Something happened to tip them over"...... yeah... I'd say MENOPAUSE. "Take advantage of CF care?" Yeah ... right.
At around 9:27 - 9:28 mark the dr. mentioned "something happens that tips this over to lose that function" - does this mean that atypical CF patient or one with partial function could suddenly fall into a severe category of CF patient during their lifetime? How is this possible as your genetic code isn't changing in the middle of your lifespan, correct?
I’m in the process of getting diagnose with CF in my early 40’s. I was wondering once you get on the meds do you have more energy so you aren’t always tired? How do you feel once you are taking the meds
I'm in the UK. I have all the symptoms but I'm not sure if they would be picked up by the test by the NHS. What can I do to make sure that it will be diagnosed? Thank you
Threatening to sue your GP might work! They know what to test for, they just can't be bothered, as they know you will cost the surgery bucket loads of money if you're diagnosed as 'CF' I was told by the nurse in the specialist clinic, who did my salt/chloride sweat test, that they never diagnosed an adult and that I wouldn't be the exception either... WRONG, hahaha, diagnosed at 48!!!!!!!!!
@@ketouk572 hi I saw the doctor today and all he said was ..it would have been picked up in childhood, and gave me omeprazole for the symptoms, and to go for a chest x ray ,and take a sample of what I'm coughing up back to the surgery .. I'm 55. oh and I'm in Morecambe.
@@hughiedavies6069 shame, I'm down at the south coast, ha ha Just keep bugging them!! Do the chest x-ray and the sputum sample and take it from there. I was missed at childhood! (I'm the same age as you) In those days there was no easy DNA test, - that wasn't discovered until 1989! In 1987 I was literally laughed out of my then GPs surgery, and without the internet I couldn't find out any more about CF to be sure and to pursue it further... Then in 2011 I brought it up again with my present surgery after I had done a lot of research and when my GP gave me the same line as yours, I threatened to sue her ! It was originally meant as a joke, but she got all panicky and suddenly I had all the access to all of the tests!!! x-ray, sputum sample and then a trypsin test (a gut enzyme) after which I was referred to a CF center for more tests, - and the rest is history =)
@@hughiedavies6069 ...and before you take the omeprazole, a proton pump inhibitor, you might want to have a look at these resesrch articles: www.greenmedinfo.com/toxic-ingredient/proton-pump-inhibitors
I want to know if an Adult has a positive sweat test, is it possible to not find the gene mutation they have? I feel like the gene test I took might not be accurate as well because of how the lab presented it. There was a lot of confuse around it.
Yes. It took 3 genetic tests to find my mutation. Being an adult the mutation is not common, therefore a test that only tested the minimum and common mutations is like to miss the gene.
Yes, absolutely. There are around 2000 mutations that have been identified so far, but in the initial genetic test they don't actually analyse your specific gene/-combination (expensive), but just screen it against a panel of 30 or 100 of the most common mutations (cheap)!!
It's usually done through a combination of sweat chloride test (which may be normal in mild cases), NPD (which can have an overlap between mild CF readings and normal readings), and genetic analysis for common and uncommon mutations. Each test is ideally done more than once, on separate occasions, before the results of each are considered reliable. In adulthood the diagnostic process is usually started as a result of symptoms - but the possibility wouldn't be the first one GPs would jump to so may require some patient advocacy, hence why awareness is so important.
My boyfriend has CF and I'm doing everything I can to learn about it so I can take care of him
Just got diagnosed at 54yrs. Pancreatic sufficiency but very thin! "Something happened to tip them over"...... yeah... I'd say MENOPAUSE. "Take advantage of CF care?" Yeah ... right.
At around 9:27 - 9:28 mark the dr. mentioned "something happens that tips this over to lose that function" - does this mean that atypical CF patient or one with partial function could suddenly fall into a severe category of CF patient during their lifetime? How is this possible as your genetic code isn't changing in the middle of your lifespan, correct?
My guess is that oestrogen was protective for me. I hit menopause... goodbye oestrogen... and hello NTM
Very helpful and informative! I'll have to try watching it again. Thank you.
I’m in the process of getting diagnose with CF in my early 40’s. I was wondering once you get on the meds do you have more energy so you aren’t always tired? How do you feel once you are taking the meds
Were you able to get the diagnosis?
Have you finally got your diagnosis?
@@askabie it came back negative. I’m still in the figuring out what is wrong with me.
@@desireeandrews6710 I'm so sorry to hear that. What's your next step? I'm currently waiting for my results. Next step will be PCD tests.
My daughter is 14 with symptoms and she also has aquagenic wrinkling of the palms.
My son is 8 years .he has aquagenic wrinkling any treatment bis there
I'm in the UK. I have all the symptoms but I'm not sure if they would be picked up by the test by the NHS. What can I do to make sure that it will be diagnosed? Thank you
Threatening to sue your GP might work! They know what to test for, they just can't be bothered, as they know you will cost the surgery bucket loads of money if you're diagnosed as 'CF'
I was told by the nurse in the specialist clinic, who did my salt/chloride sweat test, that they never diagnosed an adult and that I wouldn't be the exception either... WRONG, hahaha, diagnosed at 48!!!!!!!!!
Where abouts are you? (might be able to help?!)
@@ketouk572 hi I saw the doctor today and all he said was ..it would have been picked up in childhood, and gave me omeprazole for the symptoms, and to go for a chest x ray ,and take a sample of what I'm coughing up back to the surgery .. I'm 55. oh and I'm in Morecambe.
@@hughiedavies6069
shame, I'm down at the south coast, ha ha
Just keep bugging them!! Do the chest x-ray and the sputum sample and take it from there.
I was missed at childhood! (I'm the same age as you) In those days there was no easy DNA test, - that wasn't discovered until 1989! In 1987 I was literally laughed out of my then GPs surgery, and without the internet I couldn't find out any more about CF to be sure and to pursue it further...
Then in 2011 I brought it up again with my present surgery after I had done a lot of research and when my GP gave me the same line as yours, I threatened to sue her ! It was originally meant as a joke, but she got all panicky and suddenly I had all the access to all of the tests!!!
x-ray, sputum sample and then a trypsin test (a gut enzyme) after which I was referred to a CF center for more tests, - and the rest is history =)
@@hughiedavies6069
...and before you take the omeprazole, a proton pump inhibitor, you might want to have a look at these resesrch articles:
www.greenmedinfo.com/toxic-ingredient/proton-pump-inhibitors
I want to know if an Adult has a positive sweat test, is it possible to not find the gene mutation they have? I feel like the gene test I took might not be accurate as well because of how the lab presented it. There was a lot of confuse around it.
Yes. It took 3 genetic tests to find my mutation. Being an adult the mutation is not common, therefore a test that only tested the minimum and common mutations is like to miss the gene.
Yes, absolutely. There are around 2000 mutations that have been identified so far, but in the initial genetic test they don't actually analyse your specific gene/-combination (expensive), but just screen it against a panel of 30 or 100 of the most common mutations (cheap)!!
Any1 got timemark for when they ACTUALLY tell how to make the diagnosis in adulthood?...
It's usually done through a combination of sweat chloride test (which may be normal in mild cases), NPD (which can have an overlap between mild CF readings and normal readings), and genetic analysis for common and uncommon mutations. Each test is ideally done more than once, on separate occasions, before the results of each are considered reliable. In adulthood the diagnostic process is usually started as a result of symptoms - but the possibility wouldn't be the first one GPs would jump to so may require some patient advocacy, hence why awareness is so important.
Do seizures ever accompany someone who was diagnosed late in life with C.F.?
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