Hi My Daughter was diagnosed last year. She has the same symptoms as you have. Her mutation must be rare as well because they were only able to identify one gene that indicated the mutation. She is sick all the time. She has some good days but she shows symptoms most days. This is the first time I am writing. It has been dificult because no one diagnosed her and I took her from one doctor to the next. Finally, an allergy and asmtha specialist sugested we do a sweat test which came up positive. We were shocked, overwhelmed, sad, confused. It has only been one year. It is a complicated disease. They do not know enough about the disease. She is 15 and has been difficult with doing her medicine. She had surgery as well after she was diagnosed. She had felt some relief but not enough. Each day is a battle but we try to take one day at a time. My son was tested and came up with intermediate CF and tomorrow we find go to the doctor to get some answers about him. He does not have symptoms like my daughter. I found that if she does her medicine, eats alot of protein and gets her rest she is better. Also the ocean helps. Be well and hopefully we can help each other! christine k
Diagnosed at age 50
- Thread starter Simba15
- Start date
Hi My Daughter was diagnosed last year. She has the same symptoms as you have. Her mutation must be rare as well because they were only able to identify one gene that indicated the mutation. She is sick all the time. She has some good days but she shows symptoms most days. This is the first time I am writing. It has been dificult because no one diagnosed her and I took her from one doctor to the next. Finally, an allergy and asmtha specialist sugested we do a sweat test which came up positive. We were shocked, overwhelmed, sad, confused. It has only been one year. It is a complicated disease. They do not know enough about the disease. She is 15 and has been difficult with doing her medicine. She had surgery as well after she was diagnosed. She had felt some relief but not enough. Each day is a battle but we try to take one day at a time. My son was tested and came up with intermediate CF and tomorrow we find go to the doctor to get some answers about him. He does not have symptoms like my daughter. I found that if she does her medicine, eats alot of protein and gets her rest she is better. Also the ocean helps. Be well and hopefully we can help each other! christine k
<BR>Hi My Daughter was diagnosed last year. She has the same symptoms as you have. Her mutation must be rare as well because they were only able to identify one gene that indicated the mutation. She is sick all the time. She has some good days but she shows symptoms most days. This is the first time I am writing. It has been dificult because no one diagnosed her and I took her from one doctor to the next. Finally, an allergy and asmtha specialist sugested we do a sweat test which came up positive. We were shocked, overwhelmed, sad, confused. It has only been one year. It is a complicated disease. They do not know enough about the disease. She is 15 and has been difficult with doing her medicine. She had surgery as well after she was diagnosed. She had felt some relief but not enough. Each day is a battle but we try to take one day at a time. My son was tested and came up with intermediate CF and tomorrow we find go to the doctor to get some answers about him. He does not have symptoms like my daughter. I found that if she does her medicine, eats alot of protein and gets her rest she is better. Also the ocean helps. Be well and hopefully we can help each other! christine k
<div class="FTQUOTE"><begin quote>If they only identified one gene then she is a carrier and does not have the disease.</end quote></div>
This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
<div class="FTQUOTE"><begin quote>If they only identified one gene then she is a carrier and does not have the disease.</end quote>
This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
<div class="FTQUOTE"><begin quote>If they only identified one gene then she is a carrier and does not have the disease.</end quote>
<br />This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
<br />
<br />1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
<br />2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
<br />3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
<br />4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
<br />Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
<br />
<br />In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
<br />
<br />This is not always true. There are parts of the gene that even genetic sequencing does not examine and test results indicate that a small amount of those with CF will not have both mutations identified even with this testing. In that case, other testing (positive sweat test; in males- absence of the vas deferens; nasal potential difference testing; newborn screen results, etc as well as an individual's symptoms must be looked at, for example:
<br />
<br />1. Pancreatic insufficiency, symptoms of which are difficulties in weight gain, slowed growth, bulky/greasy/floating stools; fecal fat & elastase testing is also helpful in dx'ing this.
<br />2. Specific types of GI problems (obstructions, rectal prolapse, etc can be red flags for CF when combined with other symptoms.)
<br />3. Frequent pulmonary infections that do not respond to 'typical' treatment and/or severe sinus disease & polyps.
<br />4. Sputum culture positive for pseudomonas aeruginosa (this is nearly diagnostic) or other bugs more typically seen in people w/cf.
<br />Combinations of symptoms and some positive testing criteria and improvement when treatment is started that is appropriate for someone with CF is all necessary for dx in these cases.
<br />
<br />In my daughter's case we only know one mutation. She has a cousin with only one known mutation as well. In both cases, they were clearly symptomatic enough to make dx clear (he was born with meconium ileus), Emily was dx'ed later (age 7) in severe growth failure and had a sweat test of 108, in addition to other symptoms.
<br />
<div class="FTQUOTE"><begin quote>HMW: I saw my doctor and he gave me a sputum cup and a lab slip. He told me to hang onto it and when I get very sick, give the sputum sample then. I take an antibiotic every day now and that is helping me. When I get in very hot ait it is worse so I am trying avoid that</end quote></div>
I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
<div class="FTQUOTE"><begin quote>HMW: I saw my doctor and he gave me a sputum cup and a lab slip. He told me to hang onto it and when I get very sick, give the sputum sample then. I take an antibiotic every day now and that is helping me. When I get in very hot ait it is worse so I am trying avoid that</end quote>
I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
<div class="FTQUOTE"><begin quote>HMW: I saw my doctor and he gave me a sputum cup and a lab slip. He told me to hang onto it and when I get very sick, give the sputum sample then. I take an antibiotic every day now and that is helping me. When I get in very hot ait it is worse so I am trying avoid that</end quote>
<br />I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
<br />
<br />I hope giving the sputum culture then is helpful! I am glad that the abx you are taking is helping you. It's common for those with CF to have difficulties with the heat due to the extreme salt loss they experience. Emily gets very tired and craves salt in this weather.
<br />
Simba15
Member
I am not able to expel any mucous. I took mucinex and it loosened it but i can't get it out. can't even get it into my mouth. my ent did a sinus culter: no PA. pulmonoligist did a blooed test: no PA. not sure why i get severe itchy head (inside), followed my sinus infection, folllowed by bronchitis, over and over and over. i am not allergic to anything.
HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.
HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.
Simba15
Member
I am not able to expel any mucous. I took mucinex and it loosened it but i can't get it out. can't even get it into my mouth. my ent did a sinus culter: no PA. pulmonoligist did a blooed test: no PA. not sure why i get severe itchy head (inside), followed my sinus infection, folllowed by bronchitis, over and over and over. i am not allergic to anything.
HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.
HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.
Simba15
Member
I am not able to expel any mucous. I took mucinex and it loosened it but i can't get it out. can't even get it into my mouth. my ent did a sinus culter: no PA. pulmonoligist did a blooed test: no PA. not sure why i get severe itchy head (inside), followed my sinus infection, folllowed by bronchitis, over and over and over. i am not allergic to anything.
<br />
<br />HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.
<br />
<br />HMW: you post someplace on here that you got combined insurance. i did too. i don't qualify for their disability but i got insranced for accident and sickness; accident only; and cancer. now i have 2 life policies, 1 LTC, 1 disability ; 2 hospital; 1 cancer and 1 accident. that's the best i can do. i can never quaify for a better disability policy. we are automatically knocked out b/c of the cf. <img src="i/expressions/face-icon-small-sad.gif" border="0"> i also realized how pissed i am i wasn't diagnosed til age 50. i could have gotten social secuirty as a child and would not have my massive student loan debt. i feel really screwed.