Question about genetic variants....

[okok]

I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.

 

[okok]

I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.

 

[okok]

I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.

 

[okok]

I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[christenk]

Thank you so much Bonnie. I would love to hear more about your story as you are the first person I have ever spoken to with the same genetic combo. as my daughter. My email address is christenkutz@yahoo.com if you wouldn't mind telling me more about your experience!! Once again, thank you!
Christen

 

[hopesiris]

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[hopesiris]

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[hopesiris]

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[hopesiris]

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[hopesiris]

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[clawson5104]

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..

 

[clawson5104]

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..

 

[clawson5104]

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..

 

[clawson5104]

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..