Question about genetic variants....

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clawson5104

New member
my son (turns 2yrs old 6/26) was recently "diagnosed" he is R117H/5T. his doc told me he is considered atypical.....to be on the safe side to consider him having a "mild" case of CF....in comparison with most CF'ers. better safe than sorry when it comes to germs. He has lung issues, and digestive issues, but so far is still pancreatic sufficient. he is also anemic. his mutation is usually associated with pancreatic, and reproductive problems....so him having lung problems......they think he may show another mutation later when they identify more......or there's more to this mutation than previously believed. so, to me this is all still very confusing. but i just treat him as a CFer with TONS of energy.....lol. he has 4 breathing treatments(2 pulmocort & 2 albuterol---more albuterol as needed) CPT twice a day , singulair, prevacid, and 1/2 vitamin a day. he does pretty good. but wheezes alot at night, and hot days. snores as much as i do too!!lol. donno if i helped much...still new to this as far as i'm concerned.
good luck, hope everything works out for u and ur baby..
 
C

clawson5104

New member
my son (turns 2yrs old 6/26) was recently "diagnosed" he is R117H/5T. his doc told me he is considered atypical.....to be on the safe side to consider him having a "mild" case of CF....in comparison with most CF'ers. better safe than sorry when it comes to germs. He has lung issues, and digestive issues, but so far is still pancreatic sufficient. he is also anemic. his mutation is usually associated with pancreatic, and reproductive problems....so him having lung problems......they think he may show another mutation later when they identify more......or there's more to this mutation than previously believed. so, to me this is all still very confusing. but i just treat him as a CFer with TONS of energy.....lol. he has 4 breathing treatments(2 pulmocort & 2 albuterol---more albuterol as needed) CPT twice a day , singulair, prevacid, and 1/2 vitamin a day. he does pretty good. but wheezes alot at night, and hot days. snores as much as i do too!!lol. donno if i helped much...still new to this as far as i'm concerned.
good luck, hope everything works out for u and ur baby..
 
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christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

christenk

New member
Hi Carrie,
Thanks for telling me a little bit about your son. It is nice to know there are other people out there who can relate! As far a my daughter goes, she has been relatively asymptomatic, but her most recent chest xray was abnormal and her AST was elevated. We are currently going to the CF center in Hershey, PA every 3-6 months. We'll have to keep in touch!
Christen
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
C

cherishthree

New member
I have 2 Children Christopher 11 and Hannah 7 years. Both diagnosed and treated for mild CF. They have a 5t/5T mutation. Hannah was just hospitalized for 10 days of IV for a Staph Aures infection. Although they do not usually treat this she was having some major problems with since she has been culturing it. for over 2 years now. Her pft are in 98-100% she is pancreatic sufficient. But has failure to thrive not even on the Chart since 18 months. They both have severe sinus disease with Hannah having polyps removed and sinus clean outs.Christopher pft are 70-80% not as great but he was for the past year 9 1/2 years just getting treated as a asthma patient so it moved up from 48% since he has been diagnosed and we started to use the vest and pulmozyme a year ago and taken off all Asthma meds!! They as of yet do not take enzymes or added vitamins there levels so far hhave been good there. Hannan has two small spots on cat scan of her lungs but she is doing well after IV treatments and will be on Antibotics for a month more. Some Doc say this is atypical but there clinic says it is mild Cf and when they are sick they need to up the treatment like classic Cf IV xtra calories all that stuff!! Good Luck, Kathy
 
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