Confused and Frustrated

Z

zinnia

Guest
My baby is 4 mo, He makes no treatment, only reviews, a negative sweat test, a chest x-ray, no medicine, take vitamins a, d, c and iron as a normal baby, is exclusive breastfeeding, he sleeps well, no cramps, no reflux, is very easy, always smiling, never sick, never cold, nothing to indicate that he feel bad, like you I thought it would be their mutations in cis, but we've done studies, and the mutations are in trans, has the deltaF508 in cis with 7T, which is very rare.
 
Z

zinnia

Guest
My baby is 4 mo, He makes no treatment, only reviews, a negative sweat test, a chest x-ray, no medicine, take vitamins a, d, c and iron as a normal baby, is exclusive breastfeeding, he sleeps well, no cramps, no reflux, is very easy, always smiling, never sick, never cold, nothing to indicate that he feel bad, like you I thought it would be their mutations in cis, but we've done studies, and the mutations are in trans, has the deltaF508 in cis with 7T, which is very rare.
 
M

MommaKas

Guest
I am by no means an expert, as my daughter was diagnosed just a few months shy of her 11th birthday just last year, but when she was younger she really didn't have lung symptoms either. She did, however, have GI symptoms since the day of her birth and it still went undetected.... she saw GI specialists from the time she was 4, and it still went undetected... it wasn't something they ever tested her for... I got the news I was a carrier for CF from a standard prenatal screening when she was 10. When I researched what CF was in fear for my unborn child, my fear quickly doubled as every symptom matched my daughters... still when I asked if it could be CF I was told not likely, usually diagnosis happens by age 2. I was also told her lungs sounded clear, and "not to worry". Her cough didn't go away and neither did her GI problems, so when we finally got to see her GI doctor just 6 weeks after my youngest was born, he agreed that her symptoms fit and sent us for testing... the "screening" test came back borderline (we had it done at a local hospital) so they sent us to an accredited testing site... the first test came back positive, and they sent us for a second. The day after we had her second test we saw a pulmonologist for the first time in her life... turns out he didn't think she sounded "clear" and her PFT's were in the 40's.... they had warned us our first appointment could take hours.... but they cut it way short and hospitalized her on the spot.... I am sorry if you are wondering why i shared all this... it is because I want you to know that no lung symptoms now does NOT mean no lung symptoms later. Also, find out if the first test you had was at an accredited testing facility..... if he has two mutations, it is my understanding that he has CF... I am not a doctor or a genetisist...so talking to them would be a good idea, but I certainly would be firm in the need to know! I always knew something was wrong with my daughter, but they could never tell me what caused all her pain and tummy troubles... we can never get back the nearly 11 years of preventitive treatments that could have kept her lungs healthier.... and I still can't stop kicking myself for not pushing the issue harder. I hope that the negative sweat test for your child is correct and a modified gene is not the same as a mutated gene, but if I were you I wouldn't stop until I was satisfied with what they are telling you.....
 
M

MommaKas

Guest
I am by no means an expert, as my daughter was diagnosed just a few months shy of her 11th birthday just last year, but when she was younger she really didn't have lung symptoms either. She did, however, have GI symptoms since the day of her birth and it still went undetected.... she saw GI specialists from the time she was 4, and it still went undetected... it wasn't something they ever tested her for... I got the news I was a carrier for CF from a standard prenatal screening when she was 10. When I researched what CF was in fear for my unborn child, my fear quickly doubled as every symptom matched my daughters... still when I asked if it could be CF I was told not likely, usually diagnosis happens by age 2. I was also told her lungs sounded clear, and "not to worry". Her cough didn't go away and neither did her GI problems, so when we finally got to see her GI doctor just 6 weeks after my youngest was born, he agreed that her symptoms fit and sent us for testing... the "screening" test came back borderline (we had it done at a local hospital) so they sent us to an accredited testing site... the first test came back positive, and they sent us for a second. The day after we had her second test we saw a pulmonologist for the first time in her life... turns out he didn't think she sounded "clear" and her PFT's were in the 40's.... they had warned us our first appointment could take hours.... but they cut it way short and hospitalized her on the spot.... I am sorry if you are wondering why i shared all this... it is because I want you to know that no lung symptoms now does NOT mean no lung symptoms later. Also, find out if the first test you had was at an accredited testing facility..... if he has two mutations, it is my understanding that he has CF... I am not a doctor or a genetisist...so talking to them would be a good idea, but I certainly would be firm in the need to know! I always knew something was wrong with my daughter, but they could never tell me what caused all her pain and tummy troubles... we can never get back the nearly 11 years of preventitive treatments that could have kept her lungs healthier.... and I still can't stop kicking myself for not pushing the issue harder. I hope that the negative sweat test for your child is correct and a modified gene is not the same as a mutated gene, but if I were you I wouldn't stop until I was satisfied with what they are telling you.....
 
M

MommaKas

Guest
I am by no means an expert, as my daughter was diagnosed just a few months shy of her 11th birthday just last year, but when she was younger she really didn't have lung symptoms either. She did, however, have GI symptoms since the day of her birth and it still went undetected.... she saw GI specialists from the time she was 4, and it still went undetected... it wasn't something they ever tested her for... I got the news I was a carrier for CF from a standard prenatal screening when she was 10. When I researched what CF was in fear for my unborn child, my fear quickly doubled as every symptom matched my daughters... still when I asked if it could be CF I was told not likely, usually diagnosis happens by age 2. I was also told her lungs sounded clear, and "not to worry". Her cough didn't go away and neither did her GI problems, so when we finally got to see her GI doctor just 6 weeks after my youngest was born, he agreed that her symptoms fit and sent us for testing... the "screening" test came back borderline (we had it done at a local hospital) so they sent us to an accredited testing site... the first test came back positive, and they sent us for a second. The day after we had her second test we saw a pulmonologist for the first time in her life... turns out he didn't think she sounded "clear" and her PFT's were in the 40's.... they had warned us our first appointment could take hours.... but they cut it way short and hospitalized her on the spot.... I am sorry if you are wondering why i shared all this... it is because I want you to know that no lung symptoms now does NOT mean no lung symptoms later. Also, find out if the first test you had was at an accredited testing facility..... if he has two mutations, it is my understanding that he has CF... I am not a doctor or a genetisist...so talking to them would be a good idea, but I certainly would be firm in the need to know! I always knew something was wrong with my daughter, but they could never tell me what caused all her pain and tummy troubles... we can never get back the nearly 11 years of preventitive treatments that could have kept her lungs healthier.... and I still can't stop kicking myself for not pushing the issue harder. I hope that the negative sweat test for your child is correct and a modified gene is not the same as a mutated gene, but if I were you I wouldn't stop until I was satisfied with what they are telling you.....
 
B

ByGrace

Guest
MommaKas, my ds was tested at an accredited CF center. His sweat test was negative, but the genetic results show the 2 mutations, which family testing revealed were in trans, proving he does have CF. Since one of his "mutations" is actually a variant it has the possibility of only producing mild symptoms (if any), but it could also act like classic CF; there's really no way to tell.

We had a GI appointment today and the Dr seemed ready and willing to keep his CF doctor involved and even recommended some further testing for the CF clinic to perform. I definitely want him to be observed closely so we can catch any potential lung problems before they damage his health.
 
B

ByGrace

Guest
MommaKas, my ds was tested at an accredited CF center. His sweat test was negative, but the genetic results show the 2 mutations, which family testing revealed were in trans, proving he does have CF. Since one of his "mutations" is actually a variant it has the possibility of only producing mild symptoms (if any), but it could also act like classic CF; there's really no way to tell.

We had a GI appointment today and the Dr seemed ready and willing to keep his CF doctor involved and even recommended some further testing for the CF clinic to perform. I definitely want him to be observed closely so we can catch any potential lung problems before they damage his health.
 
B

ByGrace

Guest
MommaKas, my ds was tested at an accredited CF center. His sweat test was negative, but the genetic results show the 2 mutations, which family testing revealed were in trans, proving he does have CF. Since one of his "mutations" is actually a variant it has the possibility of only producing mild symptoms (if any), but it could also act like classic CF; there's really no way to tell.

We had a GI appointment today and the Dr seemed ready and willing to keep his CF doctor involved and even recommended some further testing for the CF clinic to perform. I definitely want him to be observed closely so we can catch any potential lung problems before they damage his health.
 
L

littletaylor

New member
i don't know anything about the genetic testing part of cystic fibrosis or anything like that, but one thing i do know is how it feels to have cystic fibrosis and how it usually looks, i was diagnosed at 9 months old and my mom said the main thing cystic fibrosis did and still does is back up, clog, and inflame different parts of my digestive system. it's been that way for years, they've only been able to completely clear it out once, back when i was 3.
he'll probably just needs enzymes, something similar to zantac that's safe for children, in case of any acid reflux which is very common in cystic fibrosis patients, and something along the likes of miralax, just in case things get backed up to help move things along and so his stomach won't hurt as bad. :)
i'm sure your little boy will be fine, especially if he's gone 8 years of being alive with his cystic fibrosis going undetected. haha. if it takes that long or even longer for c.f. to be detected, it usually means that the patient's case turns out to be a milder one than most, which is really good. all you have to do now is find yourself a good cystic fibrosis doctor near where you live & follow their orders on what to do to fix your son's tummy problems until you get more into the swing of the c.f. way of things. my suggestion for a doctor though, if you live near mississippi and can't find a good c.f. specialist, look up dr. aekin. she's extremely good and a very nice and caring doctor and would be perfect for a first ever c.f. patient.

good luck! :)
 
L

littletaylor

New member
i don't know anything about the genetic testing part of cystic fibrosis or anything like that, but one thing i do know is how it feels to have cystic fibrosis and how it usually looks, i was diagnosed at 9 months old and my mom said the main thing cystic fibrosis did and still does is back up, clog, and inflame different parts of my digestive system. it's been that way for years, they've only been able to completely clear it out once, back when i was 3.
he'll probably just needs enzymes, something similar to zantac that's safe for children, in case of any acid reflux which is very common in cystic fibrosis patients, and something along the likes of miralax, just in case things get backed up to help move things along and so his stomach won't hurt as bad. :)
i'm sure your little boy will be fine, especially if he's gone 8 years of being alive with his cystic fibrosis going undetected. haha. if it takes that long or even longer for c.f. to be detected, it usually means that the patient's case turns out to be a milder one than most, which is really good. all you have to do now is find yourself a good cystic fibrosis doctor near where you live & follow their orders on what to do to fix your son's tummy problems until you get more into the swing of the c.f. way of things. my suggestion for a doctor though, if you live near mississippi and can't find a good c.f. specialist, look up dr. aekin. she's extremely good and a very nice and caring doctor and would be perfect for a first ever c.f. patient.

good luck! :)
 
L

littletaylor

New member
i don't know anything about the genetic testing part of cystic fibrosis or anything like that, but one thing i do know is how it feels to have cystic fibrosis and how it usually looks, i was diagnosed at 9 months old and my mom said the main thing cystic fibrosis did and still does is back up, clog, and inflame different parts of my digestive system. it's been that way for years, they've only been able to completely clear it out once, back when i was 3.
he'll probably just needs enzymes, something similar to zantac that's safe for children, in case of any acid reflux which is very common in cystic fibrosis patients, and something along the likes of miralax, just in case things get backed up to help move things along and so his stomach won't hurt as bad. :)
i'm sure your little boy will be fine, especially if he's gone 8 years of being alive with his cystic fibrosis going undetected. haha. if it takes that long or even longer for c.f. to be detected, it usually means that the patient's case turns out to be a milder one than most, which is really good. all you have to do now is find yourself a good cystic fibrosis doctor near where you live & follow their orders on what to do to fix your son's tummy problems until you get more into the swing of the c.f. way of things. my suggestion for a doctor though, if you live near mississippi and can't find a good c.f. specialist, look up dr. aekin. she's extremely good and a very nice and caring doctor and would be perfect for a first ever c.f. patient.

good luck! :)
 
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