Diagnosed at age 50

Simba15 · Jun 12, 2011

<p class="MsoNormal" style="margin-bottom:0in;margin-bottom:.0001pt;line-height:
normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Hello:
I am new to this forum. I was just diagnosed at age 50. I am a woman. I have
been to an excessive number of doctors my entire life and treated for habitual
sinus nfections and bronchitis which have become closer together with age - I
am sick half the time and well half the time. I had sinus surgery in July 2010
- which did help with the ability to expel muscus - but didn't cut down on
infections. My ENT finally send me to a thorough pulmonologist at Yale who
diagnosed me in the first meeting (!!!!!) after genetic blood tests.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
can't believe not one doctor ever considered CF for me! That makes me mad
because maybe I could have gotten different/better treatment.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
suppose for some I will be an inspiration that I am 50 years old. However, I am
kind of still in shock. My doctor, who is excellent. said my mutations are rare
and he has to do research on them. He only knows of one other patient which my
mutations who is 76 years old. I go back and see him in July 2011 and he will
tell me more information and make treatment suggestions.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
work in a school (k-8). I have an excellent air filter runnning but i am not in
my room all the time. I try and wash my hands. I walk 4 x 30 minutes a day with
my dog. I need to lose weight (25 lbs). I notice when I eat carbs I bloat and
put on weight. The blood tests for pancreas/liver function came back normal.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Everything
I have read about my mutations is medical jargon and really i don't know
anything about it. If anyone can help, please do.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Thanks,
I have alot to read here.

Simba15 · Jun 12, 2011

<p class="MsoNormal" style="margin-bottom:0in;margin-bottom:.0001pt;line-height:
normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Hello:
I am new to this forum. I was just diagnosed at age 50. I am a woman. I have
been to an excessive number of doctors my entire life and treated for habitual
sinus nfections and bronchitis which have become closer together with age - I
am sick half the time and well half the time. I had sinus surgery in July 2010
- which did help with the ability to expel muscus - but didn't cut down on
infections. My ENT finally send me to a thorough pulmonologist at Yale who
diagnosed me in the first meeting (!!!!!) after genetic blood tests.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
can't believe not one doctor ever considered CF for me! That makes me mad
because maybe I could have gotten different/better treatment.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
suppose for some I will be an inspiration that I am 50 years old. However, I am
kind of still in shock. My doctor, who is excellent. said my mutations are rare
and he has to do research on them. He only knows of one other patient which my
mutations who is 76 years old. I go back and see him in July 2011 and he will
tell me more information and make treatment suggestions.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
work in a school (k-8). I have an excellent air filter runnning but i am not in
my room all the time. I try and wash my hands. I walk 4 x 30 minutes a day with
my dog. I need to lose weight (25 lbs). I notice when I eat carbs I bloat and
put on weight. The blood tests for pancreas/liver function came back normal.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Everything
I have read about my mutations is medical jargon and really i don't know
anything about it. If anyone can help, please do.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Thanks,
I have alot to read here.

Simba15 · Jun 12, 2011

<p class="MsoNormal" style="margin-bottom:0in;margin-bottom:.0001pt;line-height:
normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Hello:
I am new to this forum. I was just diagnosed at age 50. I am a woman. I have
been to an excessive number of doctors my entire life and treated for habitual
sinus nfections and bronchitis which have become closer together with age - I
am sick half the time and well half the time. I had sinus surgery in July 2010
- which did help with the ability to expel muscus - but didn't cut down on
infections. My ENT finally send me to a thorough pulmonologist at Yale who
diagnosed me in the first meeting (!!!!!) after genetic blood tests.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
can't believe not one doctor ever considered CF for me! That makes me mad
because maybe I could have gotten different/better treatment.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
suppose for some I will be an inspiration that I am 50 years old. However, I am
kind of still in shock. My doctor, who is excellent. said my mutations are rare
and he has to do research on them. He only knows of one other patient which my
mutations who is 76 years old. I go back and see him in July 2011 and he will
tell me more information and make treatment suggestions.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">I
work in a school (k-8). I have an excellent air filter runnning but i am not in
my room all the time. I try and wash my hands. I walk 4 x 30 minutes a day with
my dog. I need to lose weight (25 lbs). I notice when I eat carbs I bloat and
put on weight. The blood tests for pancreas/liver function came back normal.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Everything
I have read about my mutations is medical jargon and really i don't know
anything about it. If anyone can help, please do.

<p class="MsoNormal" style="mso-margin-top-alt:auto;mso-margin-bottom-alt:auto;
line-height:normal"><span style="font-size:9.0pt;font-family:"Verdana","sans-serif";
mso-fareast-font-family:"Times New Roman";mso-bidi-font-family:"Times New Roman"">Thanks,
I have alot to read here.

Printer · Jun 12, 2011

Hi:

I am male 71 and was dx at age 47. Now that you have been dx and treated properly, you will be much healthier.

Good luck,
Bill

Printer · Jun 12, 2011

Hi:

I am male 71 and was dx at age 47. Now that you have been dx and treated properly, you will be much healthier.

Good luck,
Bill

Printer · Jun 12, 2011

Hi:
<br />
<br />I am male 71 and was dx at age 47. Now that you have been dx and treated properly, you will be much healthier.
<br />
<br />Good luck,
<br />Bill

Printer · Jun 12, 2011

Delta F508 is the MOST COMMON of the mutations, so your mutations are not rare. I know that you are at YALE but you need to be seen by a CF Specialist.

Bill

Printer · Jun 12, 2011

Delta F508 is the MOST COMMON of the mutations, so your mutations are not rare. I know that you are at YALE but you need to be seen by a CF Specialist.

Bill

Printer · Jun 12, 2011

Delta F508 is the MOST COMMON of the mutations, so your mutations are not rare. I know that you are at YALE but you need to be seen by a CF Specialist.
<br />
<br />Bill

just1more · Jun 12, 2011

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

just1more · Jun 12, 2011

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

just1more · Jun 12, 2011

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

vivsmom · Jun 13, 2011

LTA,<div>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. </div><div><br></div><div>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. </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 www.cff.org. 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. 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.</div><div>K</div><div>diagnosed at 55, F508 and A347 mutations</div>

vivsmom · Jun 13, 2011

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

vivsmom · Jun 13, 2011

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

mjp317 · Jun 13, 2011

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

mjp317 · Jun 13, 2011

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

mjp317 · Jun 13, 2011

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

Simba15 · Jun 14, 2011

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.

Simba15 · Jun 14, 2011

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.

Diagnosed at age 50

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