Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight digestive issues. We are hispanic and I was told yesterday that he must have some mild form of it and rare mutations and it was recommended that we go to UCSF instead because they are the best here in the Bay Area (Northern California). This is a relatively healthy kid no hospitalizations and cleared by pulmonologist recently of any pulmonary disease or asthma, in fact he said that he would have never ordered the sweat chloride test on my son (the allergiest did), he told me "look at your son that's a healthy kid can't be he's 5' 8" 201lbs and heavy set, he can't go almost 17 years with no diagnosis of CF, can't be". Obviously he was wrong and I'm devastated but trying to be strong, I know he needs me to be strong so he can fight and be strong too. If this were your child what center would you use UC Davis or UCSF, UCSF supposedly does alot of the current research. His OTO ordered the first round of testing for 32 common mutation and checking for hypothyroidism and diabetes as it's very prevalent on both sides of our family but thinks it will come back unfound guesses it's a rare mutation. I know I need to push for Full Ambry analysis which I will as soon as we have our first work up at UCSF. Any advice out there or suggestions on which center to use. Thanks for your support and help.
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My son 16 and 2nd positive Sweat Chloride
- Thread starter Fullahope
- Start date
Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight digestive issues. We are hispanic and I was told yesterday that he must have some mild form of it and rare mutations and it was recommended that we go to UCSF instead because they are the best here in the Bay Area (Northern California). This is a relatively healthy kid no hospitalizations and cleared by pulmonologist recently of any pulmonary disease or asthma, in fact he said that he would have never ordered the sweat chloride test on my son (the allergiest did), he told me "look at your son that's a healthy kid can't be he's 5' 8" 201lbs and heavy set, he can't go almost 17 years with no diagnosis of CF, can't be". Obviously he was wrong and I'm devastated but trying to be strong, I know he needs me to be strong so he can fight and be strong too. If this were your child what center would you use UC Davis or UCSF, UCSF supposedly does alot of the current research. His OTO ordered the first round of testing for 32 common mutation and checking for hypothyroidism and diabetes as it's very prevalent on both sides of our family but thinks it will come back unfound guesses it's a rare mutation. I know I need to push for Full Ambry analysis which I will as soon as we have our first work up at UCSF. Any advice out there or suggestions on which center to use. Thanks for your support and help.
Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight digestive issues. We are hispanic and I was told yesterday that he must have some mild form of it and rare mutations and it was recommended that we go to UCSF instead because they are the best here in the Bay Area (Northern California). This is a relatively healthy kid no hospitalizations and cleared by pulmonologist recently of any pulmonary disease or asthma, in fact he said that he would have never ordered the sweat chloride test on my son (the allergiest did), he told me "look at your son that's a healthy kid can't be he's 5' 8" 201lbs and heavy set, he can't go almost 17 years with no diagnosis of CF, can't be". Obviously he was wrong and I'm devastated but trying to be strong, I know he needs me to be strong so he can fight and be strong too. If this were your child what center would you use UC Davis or UCSF, UCSF supposedly does alot of the current research. His OTO ordered the first round of testing for 32 common mutation and checking for hypothyroidism and diabetes as it's very prevalent on both sides of our family but thinks it will come back unfound guesses it's a rare mutation. I know I need to push for Full Ambry analysis which I will as soon as we have our first work up at UCSF. Any advice out there or suggestions on which center to use. Thanks for your support and help.
1. almost 1/4 of all CFers at Childrens Hospital of Los Angeles are hispanic. so the fact that you're hispanic doesn't elminate your son from having CF. Germans, French, Spanish settled all over North & South America, so the fact that hispanics have CF isn't a stretch.
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
1. almost 1/4 of all CFers at Childrens Hospital of Los Angeles are hispanic. so the fact that you're hispanic doesn't elminate your son from having CF. Germans, French, Spanish settled all over North & South America, so the fact that hispanics have CF isn't a stretch.
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
1. almost 1/4 of all CFers at Childrens Hospital of Los Angeles are hispanic. so the fact that you're hispanic doesn't elminate your son from having CF. Germans, French, Spanish settled all over North & South America, so the fact that hispanics have CF isn't a stretch.
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
2. CFers are diagnosed into their 40s now-a-days. So 17 isn't an infant, but it's not too old to have CF by any means. The sooner he gets treatment, the better.
3. Sweat tests are old-school. They have high false-negative rates. Ask a physician for a Full Panel Ambry genetic test to test for all known CF genes. This will be as close to a definitive diagnosis as you can get in 2007.
Keep us posted. Sounds like he has a lot of health issues, so the sooner he can get proper treatment the better!
H2OSPORTSMOM
New member
FULLAHOPE I am new to all this too. My son a month ago at 17 tested 64 and 57 on his sweat tests. He is relatively healthy, is 5'4" tall and around 160lbs. He plays tennis for his school. We are waiting to get an appointment with our local CF Center once they look at PFT and CT's of his sinus and lungs we had last week. I am still absorbing all of this too. I actually diagnosed my son and faught my doctor for a sweat test that confirmed it. He said if my son had CF it would go down in a medical history book. I now have new MD. Best of luck with your son !!!
H2OSPORTSMOM
New member
FULLAHOPE I am new to all this too. My son a month ago at 17 tested 64 and 57 on his sweat tests. He is relatively healthy, is 5'4" tall and around 160lbs. He plays tennis for his school. We are waiting to get an appointment with our local CF Center once they look at PFT and CT's of his sinus and lungs we had last week. I am still absorbing all of this too. I actually diagnosed my son and faught my doctor for a sweat test that confirmed it. He said if my son had CF it would go down in a medical history book. I now have new MD. Best of luck with your son !!!
H2OSPORTSMOM
New member
FULLAHOPE I am new to all this too. My son a month ago at 17 tested 64 and 57 on his sweat tests. He is relatively healthy, is 5'4" tall and around 160lbs. He plays tennis for his school. We are waiting to get an appointment with our local CF Center once they look at PFT and CT's of his sinus and lungs we had last week. I am still absorbing all of this too. I actually diagnosed my son and faught my doctor for a sweat test that confirmed it. He said if my son had CF it would go down in a medical history book. I now have new MD. Best of luck with your son !!!
Hi there. Sorry to hear what you are going through, but hang in there. My daughter was diagnosed at 12 so it can and does happen every day. A cf diagnosis is not always as clear cut as we would like. My daughter had a positive sweat test, but they only found one mutation and we had the Ambry full panel done. She showed pancreatic sufficient, but had all the symptoms of insufficiency. She has several symptoms of cf, but mostly digestive issues. Every cf case in unique and a diagnosis can come from an accumulation of symptoms. She got hers on the sweat test and symptoms. Don't give up looking for answers and hang in there, it will get better.
Hi there. Sorry to hear what you are going through, but hang in there. My daughter was diagnosed at 12 so it can and does happen every day. A cf diagnosis is not always as clear cut as we would like. My daughter had a positive sweat test, but they only found one mutation and we had the Ambry full panel done. She showed pancreatic sufficient, but had all the symptoms of insufficiency. She has several symptoms of cf, but mostly digestive issues. Every cf case in unique and a diagnosis can come from an accumulation of symptoms. She got hers on the sweat test and symptoms. Don't give up looking for answers and hang in there, it will get better.
Hi there. Sorry to hear what you are going through, but hang in there. My daughter was diagnosed at 12 so it can and does happen every day. A cf diagnosis is not always as clear cut as we would like. My daughter had a positive sweat test, but they only found one mutation and we had the Ambry full panel done. She showed pancreatic sufficient, but had all the symptoms of insufficiency. She has several symptoms of cf, but mostly digestive issues. Every cf case in unique and a diagnosis can come from an accumulation of symptoms. She got hers on the sweat test and symptoms. Don't give up looking for answers and hang in there, it will get better.
I don't have any information to help you about where to go (except to say it should be a CFF accredited facility) but I do want to say.... whatever you do, get away from that doctor -- he sounds arrogant and uniformed. I can say with 100% certainty his statement of <b>"It can't be" is WRONG </b>-- HE JUST DESCRIBED MY SON WHO WAS DIAGNOSED AT AGE 18, 6' 0" 205 POUNDS !
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.
I don't have any information to help you about where to go (except to say it should be a CFF accredited facility) but I do want to say.... whatever you do, get away from that doctor -- he sounds arrogant and uniformed. I can say with 100% certainty his statement of <b>"It can't be" is WRONG </b>-- HE JUST DESCRIBED MY SON WHO WAS DIAGNOSED AT AGE 18, 6' 0" 205 POUNDS !
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.
I don't have any information to help you about where to go (except to say it should be a CFF accredited facility) but I do want to say.... whatever you do, get away from that doctor -- he sounds arrogant and uniformed. I can say with 100% certainty his statement of <b>"It can't be" is WRONG </b>-- HE JUST DESCRIBED MY SON WHO WAS DIAGNOSED AT AGE 18, 6' 0" 205 POUNDS !
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.
He also is not aware of the fact that 15% of all people with CF are pancreatic sufficient, so those people often are normal height and weight or "heavy set". <b>That doctor is clearly not aware of the A-Typical cases in CF.</b>
The 32 genetic mutation check is a good place to start but if it doesn't give you two genes, keep insisting that they do a full panel (over 1500 genes)
Read my blog for full details about my kids.
Best wishes, and please keep us posted.