I need info about CF

J

JRaeCollins

New member
I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
J

JRaeCollins

New member
I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
J

JRaeCollins

New member
I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
J

JRaeCollins

New member
I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
J

JRaeCollins

New member
I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
L

LouLou

New member
try PMing bonniebaby she has TG12-5T. I don't know if this is similar to your son's TG11-5T but maybe she'll have some advice.
 
L

LouLou

New member
try PMing bonniebaby she has TG12-5T. I don't know if this is similar to your son's TG11-5T but maybe she'll have some advice.
 
L

LouLou

New member
try PMing bonniebaby she has TG12-5T. I don't know if this is similar to your son's TG11-5T but maybe she'll have some advice.
 
L

LouLou

New member
try PMing bonniebaby she has TG12-5T. I don't know if this is similar to your son's TG11-5T but maybe she'll have some advice.
 
L

LouLou

New member
try PMing bonniebaby she has TG12-5T. I don't know if this is similar to your son's TG11-5T but maybe she'll have some advice.
 
S

sdelorenzo

Guest
Jessica,
I posted your question to Steve in the "Welcome Ambry Genetics" section. Click on "last" above. Hopefully he will be able to answer your question on whether your son has cf.
Sharon
 
S

sdelorenzo

Guest
Jessica,
I posted your question to Steve in the "Welcome Ambry Genetics" section. Click on "last" above. Hopefully he will be able to answer your question on whether your son has cf.
Sharon
 
S

sdelorenzo

Guest
Jessica,
I posted your question to Steve in the "Welcome Ambry Genetics" section. Click on "last" above. Hopefully he will be able to answer your question on whether your son has cf.
Sharon
 
S

sdelorenzo

Guest
Jessica,
I posted your question to Steve in the "Welcome Ambry Genetics" section. Click on "last" above. Hopefully he will be able to answer your question on whether your son has cf.
Sharon
 
S

sdelorenzo

Guest
Jessica,
I posted your question to Steve in the "Welcome Ambry Genetics" section. Click on "last" above. Hopefully he will be able to answer your question on whether your son has cf.
Sharon
 
C

clawson5104

New member
My son was diagnosed "atypical" CF in May '07. He has R117H with 5T/11TG. I was told that this meant he has one mutation FOR SURE, and the variant "ACTS" like a second mutation. I hope that helps.

In my son's case because he has the R117H his CF should be somewhat "mild" in comparison to other CFers. But I don't personally believe they KNOW,,,for the simple fact.....the mutation they found is not associated with respiratory problems, just reproductive according to the genetic counselor. well, this all started because of respiratory problems, and he continues to have them......so you cant really go by what they THINK. My son's pulmonologist told me regardless of what the genetic counselor said, we should consider and treat my son as a CFer. Preventive care is the main thing. So even when he's not sick, do his treatments, cpt, and everything. So far he is pacreatic sufficient, but he only weighs 25 1/2 lbs.....and he is 2 1/2yrs old. there is NO fat on this kid except his tiny little butt!!lol.

I hope this helps, and you find the answers you're looking for,
Good Luck and keep us posted......
 
C

clawson5104

New member
My son was diagnosed "atypical" CF in May '07. He has R117H with 5T/11TG. I was told that this meant he has one mutation FOR SURE, and the variant "ACTS" like a second mutation. I hope that helps.

In my son's case because he has the R117H his CF should be somewhat "mild" in comparison to other CFers. But I don't personally believe they KNOW,,,for the simple fact.....the mutation they found is not associated with respiratory problems, just reproductive according to the genetic counselor. well, this all started because of respiratory problems, and he continues to have them......so you cant really go by what they THINK. My son's pulmonologist told me regardless of what the genetic counselor said, we should consider and treat my son as a CFer. Preventive care is the main thing. So even when he's not sick, do his treatments, cpt, and everything. So far he is pacreatic sufficient, but he only weighs 25 1/2 lbs.....and he is 2 1/2yrs old. there is NO fat on this kid except his tiny little butt!!lol.

I hope this helps, and you find the answers you're looking for,
Good Luck and keep us posted......
 
C

clawson5104

New member
My son was diagnosed "atypical" CF in May '07. He has R117H with 5T/11TG. I was told that this meant he has one mutation FOR SURE, and the variant "ACTS" like a second mutation. I hope that helps.

In my son's case because he has the R117H his CF should be somewhat "mild" in comparison to other CFers. But I don't personally believe they KNOW,,,for the simple fact.....the mutation they found is not associated with respiratory problems, just reproductive according to the genetic counselor. well, this all started because of respiratory problems, and he continues to have them......so you cant really go by what they THINK. My son's pulmonologist told me regardless of what the genetic counselor said, we should consider and treat my son as a CFer. Preventive care is the main thing. So even when he's not sick, do his treatments, cpt, and everything. So far he is pacreatic sufficient, but he only weighs 25 1/2 lbs.....and he is 2 1/2yrs old. there is NO fat on this kid except his tiny little butt!!lol.

I hope this helps, and you find the answers you're looking for,
Good Luck and keep us posted......
 
C

clawson5104

New member
My son was diagnosed "atypical" CF in May '07. He has R117H with 5T/11TG. I was told that this meant he has one mutation FOR SURE, and the variant "ACTS" like a second mutation. I hope that helps.

In my son's case because he has the R117H his CF should be somewhat "mild" in comparison to other CFers. But I don't personally believe they KNOW,,,for the simple fact.....the mutation they found is not associated with respiratory problems, just reproductive according to the genetic counselor. well, this all started because of respiratory problems, and he continues to have them......so you cant really go by what they THINK. My son's pulmonologist told me regardless of what the genetic counselor said, we should consider and treat my son as a CFer. Preventive care is the main thing. So even when he's not sick, do his treatments, cpt, and everything. So far he is pacreatic sufficient, but he only weighs 25 1/2 lbs.....and he is 2 1/2yrs old. there is NO fat on this kid except his tiny little butt!!lol.

I hope this helps, and you find the answers you're looking for,
Good Luck and keep us posted......
 
C

clawson5104

New member
My son was diagnosed "atypical" CF in May '07. He has R117H with 5T/11TG. I was told that this meant he has one mutation FOR SURE, and the variant "ACTS" like a second mutation. I hope that helps.

In my son's case because he has the R117H his CF should be somewhat "mild" in comparison to other CFers. But I don't personally believe they KNOW,,,for the simple fact.....the mutation they found is not associated with respiratory problems, just reproductive according to the genetic counselor. well, this all started because of respiratory problems, and he continues to have them......so you cant really go by what they THINK. My son's pulmonologist told me regardless of what the genetic counselor said, we should consider and treat my son as a CFer. Preventive care is the main thing. So even when he's not sick, do his treatments, cpt, and everything. So far he is pacreatic sufficient, but he only weighs 25 1/2 lbs.....and he is 2 1/2yrs old. there is NO fat on this kid except his tiny little butt!!lol.

I hope this helps, and you find the answers you're looking for,
Good Luck and keep us posted......
 
You must log in or register to reply here.
Top