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Thread: Diagnosed at age 50

  1. #11

    Diagnosed at age 50

    LTA, your mutation combination is rare.

    Yes F508 is the most common mutation; however, the R334W has been noted in a handful of patients worldwide. There is some question from a medical standpoint about it's role in disease formation.

    The presence of 1 mutations (F508) means you are a carrier; the presence of the 2nd, even if rare, qualifies for the diagnosis of CF. However, the influence on R334W is not well documented, and from what I could read appears to be limited. Thus you may gain some benefit from CF-type treatments, but your doctor will have to determine how to approach.

    If you have any more questions, feel free to post them here or you can PM me (the icon above my post on the left that looks like a cartoon message bubble).

    Tom

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  2. #12

    Diagnosed at age 50

    LTA, your mutation combination is rare.
    <br />
    <br />Yes F508 is the most common mutation; however, the R334W has been noted in a handful of patients worldwide. There is some question from a medical standpoint about it's role in disease formation.
    <br />
    <br />The presence of 1 mutations (F508) means you are a carrier; the presence of the 2nd, even if rare, qualifies for the diagnosis of CF. However, the influence on R334W is not well documented, and from what I could read appears to be limited. Thus you may gain some benefit from CF-type treatments, but your doctor will have to determine how to approach.
    <br />
    <br />If you have any more questions, feel free to post them here or you can PM me (the icon above my post on the left that looks like a cartoon message bubble).
    <br />
    <br />Tom

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  3. #13

    Diagnosed at age 50

    LTA,<div>You are not alone. &nbsp;I am a 55 year old woman just diagnosed in April. &nbsp;I have "lived" with Bronchiectisis and Asthma my whole life and have been treated with every known inhaler, antibiotic, etc to keep me "active". These only masked what we now know is the real diagnosis. &nbsp;</div><div><br></div><div>I was a patient of one of the best pulmonary specialists in CT (Hartford area) for over 25 years. &nbsp;Unfortunately, he passed away several years ago and my new pulmonary doctor was the first to suggest gene mapping. &nbsp;That is how he discovered that I have the Delta F508 and Arg 347 mutations. &nbsp;His team runs the CF care center at Hartford Hospital - I start on Thursday. &nbsp;</div><div><br></div><div>I agree with a previous comment, you do need to seek out a physician who is a specialist in CF and if you haven't already, go to the CF Foundation website &nbsp; www.cff.org. &nbsp;There is a CF accredited care center at Yale and Hartford Hospitals - depending on where you life, you should join one.</div><div><br></div><div>Do not be scared. &nbsp;I am finding there are many others like us. &nbsp;I am actually relieved to finally know what it is. &nbsp;Although I do wish I had known years ago, I cannot fault my previous doctors as there was not the genetic testing available then. &nbsp;I live between New Haven and Hartford and am happy to be a CF buddy if you need someone to chat with or compare information.</div><div>K</div><div>diagnosed at 55, F508 and A347 mutations</div>

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  4. #14

    Diagnosed at age 50

    LTA,You are not alone. I am a 55 year old woman just diagnosed in April. I have "lived" with Bronchiectisis and Asthma my whole life and have been treated with every known inhaler, antibiotic, etc to keep me "active". These only masked what we now know is the real diagnosis. <br>I was a patient of one of the best pulmonary specialists in CT (Hartford area) for over 25 years. Unfortunately, he passed away several years ago and my new pulmonary doctor was the first to suggest gene mapping. That is how he discovered that I have the Delta F508 and Arg 347 mutations. His team runs the CF care center at Hartford Hospital - I start on Thursday. <br>I agree with a previous comment, you do need to seek out a physician who is a specialist in CF and if you haven't already, go to the CF Foundation website www.cff.org. There is a CF accredited care center at Yale and Hartford Hospitals - depending on where you life, you should join one.<br>Do not be scared. I am finding there are many others like us. I am actually relieved to finally know what it is. Although I do wish I had known years ago, I cannot fault my previous doctors as there was not the genetic testing available then. I live between New Haven and Hartford and am happy to be a CF buddy if you need someone to chat with or compare information.Kdiagnosed at 55, F508 and A347 mutations

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  5. #15

    Diagnosed at age 50

    LTA,You are not alone. I am a 55 year old woman just diagnosed in April. I have "lived" with Bronchiectisis and Asthma my whole life and have been treated with every known inhaler, antibiotic, etc to keep me "active". These only masked what we now know is the real diagnosis. <br>I was a patient of one of the best pulmonary specialists in CT (Hartford area) for over 25 years. Unfortunately, he passed away several years ago and my new pulmonary doctor was the first to suggest gene mapping. That is how he discovered that I have the Delta F508 and Arg 347 mutations. His team runs the CF care center at Hartford Hospital - I start on Thursday. <br>I agree with a previous comment, you do need to seek out a physician who is a specialist in CF and if you haven't already, go to the CF Foundation website www.cff.org. There is a CF accredited care center at Yale and Hartford Hospitals - depending on where you life, you should join one.<br>Do not be scared. I am finding there are many others like us. I am actually relieved to finally know what it is. Although I do wish I had known years ago, I cannot fault my previous doctors as there was not the genetic testing available then. I live between New Haven and Hartford and am happy to be a CF buddy if you need someone to chat with or compare information.Kdiagnosed at 55, F508 and A347 mutations

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  6. #16

    Diagnosed at age 50

    Hi,
    I was diagnosed a few months ago at 39. I was fine (or what I perceived to be fine) until the last 3 years. In that time, I had sinus surgery, open lung biopsy and bronchoposcopy. I have been on heavy antibiotics, sinus rinse several times a day - been accused of being crazy by my primary doctor, you name it, I have heard it, taken it, lived it. Finally, Tufts Medical Center did a genetic screen on me and sure enough - CF. They were SHOCKED. I am only the second adult diagnosed at Tufts. I think they thought I would be mad or sad - I was relieved. I had one doctor tell me I might have lung cancer - so CF is at least not lung cancer.

    I also get very bloated after eating meals and so far, don't need enzymes. My mutations are less severe as well.

    You do need to go to a CF center - regular doctors are not going to be able to guide you through the process.

    I think there are a lot of people out there like us - those with mild mutations and misdiagonosed by a health system that is not used to looking "outside the box".

    Hang in there,
    Mary Jo

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  7. #17

    Diagnosed at age 50

    Hi,
    I was diagnosed a few months ago at 39. I was fine (or what I perceived to be fine) until the last 3 years. In that time, I had sinus surgery, open lung biopsy and bronchoposcopy. I have been on heavy antibiotics, sinus rinse several times a day - been accused of being crazy by my primary doctor, you name it, I have heard it, taken it, lived it. Finally, Tufts Medical Center did a genetic screen on me and sure enough - CF. They were SHOCKED. I am only the second adult diagnosed at Tufts. I think they thought I would be mad or sad - I was relieved. I had one doctor tell me I might have lung cancer - so CF is at least not lung cancer.

    I also get very bloated after eating meals and so far, don't need enzymes. My mutations are less severe as well.

    You do need to go to a CF center - regular doctors are not going to be able to guide you through the process.

    I think there are a lot of people out there like us - those with mild mutations and misdiagonosed by a health system that is not used to looking "outside the box".

    Hang in there,
    Mary Jo

    0 Not allowed!

  8. #18

    Diagnosed at age 50

    Hi,
    <br />I was diagnosed a few months ago at 39. I was fine (or what I perceived to be fine) until the last 3 years. In that time, I had sinus surgery, open lung biopsy and bronchoposcopy. I have been on heavy antibiotics, sinus rinse several times a day - been accused of being crazy by my primary doctor, you name it, I have heard it, taken it, lived it. Finally, Tufts Medical Center did a genetic screen on me and sure enough - CF. They were SHOCKED. I am only the second adult diagnosed at Tufts. I think they thought I would be mad or sad - I was relieved. I had one doctor tell me I might have lung cancer - so CF is at least not lung cancer.
    <br />
    <br />I also get very bloated after eating meals and so far, don't need enzymes. My mutations are less severe as well.
    <br />
    <br />You do need to go to a CF center - regular doctors are not going to be able to guide you through the process.
    <br />
    <br />I think there are a lot of people out there like us - those with mild mutations and misdiagonosed by a health system that is not used to looking "outside the box".
    <br />
    <br />Hang in there,
    <br />Mary Jo

    0 Not allowed!

  9. #19

    Diagnosed at age 50

    Thanks. Yes it is the R334W that is rare. My pulmonologist has consutled with the CF center at Yale. Quite frankly i am not impressed with Yale at all. I am impressed with my doctor who works at yale. the R334W is what is throughing them all for a loop. Really there are only a few of us in the country?

    I am not a carrier. I have CF. I am glad to see i am not alone. I will IM the CT person who posted here. Thank you.

    0 Not allowed!

  10. #20

    Diagnosed at age 50

    Thanks. Yes it is the R334W that is rare. My pulmonologist has consutled with the CF center at Yale. Quite frankly i am not impressed with Yale at all. I am impressed with my doctor who works at yale. the R334W is what is throughing them all for a loop. Really there are only a few of us in the country?

    I am not a carrier. I have CF. I am glad to see i am not alone. I will IM the CT person who posted here. Thank you.

    0 Not allowed!

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