deltaF508/R117H-7T mother just diagnosed

[mom2lillian]

just FYI for all of you who had carrier screening done to keep in mind that just because DH is negative for screening does not necessarily mean he is not a carrier, it means he is not a carrier for the 36 most common mutations (that is normally the panel done around here but some do a few more) out of around 1000 possibilities. There is still around a 1+% chance he is a carrier. That being said the chance of giving birth to a child with CF at that point is in same ballpark as any other chance occurance such as downs or syndrome X etc etc but I just wanted to throw it out there since IMO too many geneticists tell parents they are clear if one is not a carrier and dont fully explain.

My DH is not a carrier per the screenign but I am still in process of getting a full amplified panel on my DD just for peace of mind for exactly these types of situations everyone is describing.

I have never heard of two mutations on same strand so would love to hear answer to that question

Thanks!

 

[mom2lillian]

just FYI for all of you who had carrier screening done to keep in mind that just because DH is negative for screening does not necessarily mean he is not a carrier, it means he is not a carrier for the 36 most common mutations (that is normally the panel done around here but some do a few more) out of around 1000 possibilities. There is still around a 1+% chance he is a carrier. That being said the chance of giving birth to a child with CF at that point is in same ballpark as any other chance occurance such as downs or syndrome X etc etc but I just wanted to throw it out there since IMO too many geneticists tell parents they are clear if one is not a carrier and dont fully explain.

My DH is not a carrier per the screenign but I am still in process of getting a full amplified panel on my DD just for peace of mind for exactly these types of situations everyone is describing.

I have never heard of two mutations on same strand so would love to hear answer to that question

Thanks!

 

[StevenKeiles]

Hello All,

R117H is a mild mutation that in many people does not cause any problems. However when there is another mutation on the other chromosome, some people can have very mild symptoms. Another very important difference with R117H is whether or not there is a 5T variant on the same chromosome. Most people carry the 7T, but when there is a 5T on the same chromosome as R117H is makes that mutation more significant, still not a severe mutation but usually there would be some mild to moderate CF presentation. It also depends on how many TG repeats there are when there is a 5T. The more TG repeats, the more significant the mutation becomes.

Regarding two mutation on the same chromosome, that can happen and does happen with certain mutations. We know of several pairs of mutations that usually occur on the same chromosome. However, deltaF508 and R117H do not occur on the same chromosome.

I hope that helps.

Let me know if there are any other questions regarding this topic.

STeve

 

[StevenKeiles]

Hello All,

R117H is a mild mutation that in many people does not cause any problems. However when there is another mutation on the other chromosome, some people can have very mild symptoms. Another very important difference with R117H is whether or not there is a 5T variant on the same chromosome. Most people carry the 7T, but when there is a 5T on the same chromosome as R117H is makes that mutation more significant, still not a severe mutation but usually there would be some mild to moderate CF presentation. It also depends on how many TG repeats there are when there is a 5T. The more TG repeats, the more significant the mutation becomes.

Regarding two mutation on the same chromosome, that can happen and does happen with certain mutations. We know of several pairs of mutations that usually occur on the same chromosome. However, deltaF508 and R117H do not occur on the same chromosome.

I hope that helps.

Let me know if there are any other questions regarding this topic.

STeve

 

[StevenKeiles]

Hello All,

R117H is a mild mutation that in many people does not cause any problems. However when there is another mutation on the other chromosome, some people can have very mild symptoms. Another very important difference with R117H is whether or not there is a 5T variant on the same chromosome. Most people carry the 7T, but when there is a 5T on the same chromosome as R117H is makes that mutation more significant, still not a severe mutation but usually there would be some mild to moderate CF presentation. It also depends on how many TG repeats there are when there is a 5T. The more TG repeats, the more significant the mutation becomes.

Regarding two mutation on the same chromosome, that can happen and does happen with certain mutations. We know of several pairs of mutations that usually occur on the same chromosome. However, deltaF508 and R117H do not occur on the same chromosome.

I hope that helps.

Let me know if there are any other questions regarding this topic.

STeve

 

[debbie1]

Hi

We only found out on tuesday that my 28 year old daughter actually has CF. She has been totally healthy all her life with no coughs, asthma, bronchitis etc.

both her and myself have has stomach troubles which we have found can be related,

it all came about when she went to her gp for info about starting a family. he refered her to Genetics for routine gene testing. it happened that both she and her husband had the f508 and so the rest of her family were tested and it was dicovered that her dad had f508 and my other daughter and i had r117h, they then tested my older daughter again and discovered she had both f508 and r117h.

she went for the pulmonary tests etc and this week was given the diagnosis of cf. it was a shock as we said-there were no obvious symptoms.
she was advised to go straight to IVF(she has been trying to get pregnant naturally and has had a bit of a delay) because she and her husband will probably have mucus interferring with conception and they have a high risk of cf baby with acute symptoms.

i wanted to just see who was out there that had been diagnosed and had really had no symtpoms.

i wonder if there are heaps of people out there , living a normal life, having health babies (3) like us who are cf sufferers.
debbie

 

[debbie1]

Hi

We only found out on tuesday that my 28 year old daughter actually has CF. She has been totally healthy all her life with no coughs, asthma, bronchitis etc.

both her and myself have has stomach troubles which we have found can be related,

it all came about when she went to her gp for info about starting a family. he refered her to Genetics for routine gene testing. it happened that both she and her husband had the f508 and so the rest of her family were tested and it was dicovered that her dad had f508 and my other daughter and i had r117h, they then tested my older daughter again and discovered she had both f508 and r117h.

she went for the pulmonary tests etc and this week was given the diagnosis of cf. it was a shock as we said-there were no obvious symptoms.
she was advised to go straight to IVF(she has been trying to get pregnant naturally and has had a bit of a delay) because she and her husband will probably have mucus interferring with conception and they have a high risk of cf baby with acute symptoms.

i wanted to just see who was out there that had been diagnosed and had really had no symtpoms.

i wonder if there are heaps of people out there , living a normal life, having health babies (3) like us who are cf sufferers.
debbie

 

[debbie1]

Hi

We only found out on tuesday that my 28 year old daughter actually has CF. She has been totally healthy all her life with no coughs, asthma, bronchitis etc.

both her and myself have has stomach troubles which we have found can be related,

it all came about when she went to her gp for info about starting a family. he refered her to Genetics for routine gene testing. it happened that both she and her husband had the f508 and so the rest of her family were tested and it was dicovered that her dad had f508 and my other daughter and i had r117h, they then tested my older daughter again and discovered she had both f508 and r117h.

she went for the pulmonary tests etc and this week was given the diagnosis of cf. it was a shock as we said-there were no obvious symptoms.
she was advised to go straight to IVF(she has been trying to get pregnant naturally and has had a bit of a delay) because she and her husband will probably have mucus interferring with conception and they have a high risk of cf baby with acute symptoms.

i wanted to just see who was out there that had been diagnosed and had really had no symtpoms.

i wonder if there are heaps of people out there , living a normal life, having health babies (3) like us who are cf sufferers.
debbie

 

[debbie1]

Hi

We only found out on tuesday that my 28 year old daughter actually has CF. She has been totally healthy all her life with no coughs, asthma, bronchitis etc.

both her and myself have has stomach troubles which we have found can be related,

it all came about when she went to her gp for info about starting a family. he refered her to Genetics for routine gene testing. it happened that both she and her husband had the f508 and so the rest of her family were tested and it was dicovered that her dad had f508 and my other daughter and i had r117h, they then tested my older daughter again and discovered she had both f508 and r117h.

she went for the pulmonary tests etc and this week was given the diagnosis of cf. it was a shock as we said-there were no obvious symptoms.
she was advised to go straight to IVF(she has been trying to get pregnant naturally and has had a bit of a delay) because she and her husband will probably have mucus interferring with conception and they have a high risk of cf baby with acute symptoms.

i wanted to just see who was out there that had been diagnosed and had really had no symtpoms.

i wonder if there are heaps of people out there , living a normal life, having health babies (3) like us who are cf sufferers.
debbie

 

[debbie1]

Hi
<br />
<br />We only found out on tuesday that my 28 year old daughter actually has CF. She has been totally healthy all her life with no coughs, asthma, bronchitis etc.
<br />
<br />both her and myself have has stomach troubles which we have found can be related,
<br />
<br />it all came about when she went to her gp for info about starting a family. he refered her to Genetics for routine gene testing. it happened that both she and her husband had the f508 and so the rest of her family were tested and it was dicovered that her dad had f508 and my other daughter and i had r117h, they then tested my older daughter again and discovered she had both f508 and r117h.
<br />
<br />she went for the pulmonary tests etc and this week was given the diagnosis of cf. it was a shock as we said-there were no obvious symptoms.
<br />she was advised to go straight to IVF(she has been trying to get pregnant naturally and has had a bit of a delay) because she and her husband will probably have mucus interferring with conception and they have a high risk of cf baby with acute symptoms.
<br />
<br />i wanted to just see who was out there that had been diagnosed and had really had no symtpoms.
<br />
<br />i wonder if there are heaps of people out there , living a normal life, having health babies (3) like us who are cf sufferers.
<br />debbie

 

[Alyssa]

Debbie,

My kids are both Delta F508 and R117H too. My daughter presented with symtoms at age 5 but was misdiagnosed until age 14 when they did gene testing.... my son was tested at age 18 just to "see if he was a carrier" but he had both genes too....he did not show any symptoms until age 21..... yes, I think there are many people out there with these mutations who reach adulthood and do not even know..... what contributes to this is the R117H gene is a class 4 gene which does have a tendency to allow the body to function close to normal so the symptoms are easily missed or just plain not there for many years.

 

[Alyssa]

Debbie,

My kids are both Delta F508 and R117H too. My daughter presented with symtoms at age 5 but was misdiagnosed until age 14 when they did gene testing.... my son was tested at age 18 just to "see if he was a carrier" but he had both genes too....he did not show any symptoms until age 21..... yes, I think there are many people out there with these mutations who reach adulthood and do not even know..... what contributes to this is the R117H gene is a class 4 gene which does have a tendency to allow the body to function close to normal so the symptoms are easily missed or just plain not there for many years.

 

[Alyssa]

Debbie,

My kids are both Delta F508 and R117H too. My daughter presented with symtoms at age 5 but was misdiagnosed until age 14 when they did gene testing.... my son was tested at age 18 just to "see if he was a carrier" but he had both genes too....he did not show any symptoms until age 21..... yes, I think there are many people out there with these mutations who reach adulthood and do not even know..... what contributes to this is the R117H gene is a class 4 gene which does have a tendency to allow the body to function close to normal so the symptoms are easily missed or just plain not there for many years.

 

[Alyssa]

Debbie,

My kids are both Delta F508 and R117H too. My daughter presented with symtoms at age 5 but was misdiagnosed until age 14 when they did gene testing.... my son was tested at age 18 just to "see if he was a carrier" but he had both genes too....he did not show any symptoms until age 21..... yes, I think there are many people out there with these mutations who reach adulthood and do not even know..... what contributes to this is the R117H gene is a class 4 gene which does have a tendency to allow the body to function close to normal so the symptoms are easily missed or just plain not there for many years.

 

[Alyssa]

Debbie,
<br />
<br />My kids are both Delta F508 and R117H too. My daughter presented with symtoms at age 5 but was misdiagnosed until age 14 when they did gene testing.... my son was tested at age 18 just to "see if he was a carrier" but he had both genes too....he did not show any symptoms until age 21..... yes, I think there are many people out there with these mutations who reach adulthood and do not even know..... what contributes to this is the R117H gene is a class 4 gene which does have a tendency to allow the body to function close to normal so the symptoms are easily missed or just plain not there for many years.

 

[nz]

Hi
I am new here and was shocked when my immune Dr. sent me for a sweat test. He then did a common genetics test. It was normal. My question is the opposite here. I appear to have all the symptoms. Bronchiectasis, lung problems, chronic bronchitis, just had gallbladder surgery, and have really bad GI problems. Should I get the full ambry test? If it shows nothing, should I then feel relieved and not worry? The reason I ask this is that I see the issues I have as typical for CF. I am 54 now. Can anyone provide input here? I don't want to appear a worrier, but I get so sick all the time. I am on antibiotics for????due to chronic sinusitis. I don't know what future help there is for me, antibiotics and prednisone aren't helpful now.
Thanks,
NZ

 

[nz]

Hi
I am new here and was shocked when my immune Dr. sent me for a sweat test. He then did a common genetics test. It was normal. My question is the opposite here. I appear to have all the symptoms. Bronchiectasis, lung problems, chronic bronchitis, just had gallbladder surgery, and have really bad GI problems. Should I get the full ambry test? If it shows nothing, should I then feel relieved and not worry? The reason I ask this is that I see the issues I have as typical for CF. I am 54 now. Can anyone provide input here? I don't want to appear a worrier, but I get so sick all the time. I am on antibiotics for????due to chronic sinusitis. I don't know what future help there is for me, antibiotics and prednisone aren't helpful now.
Thanks,
NZ

 

[nz]

Hi
I am new here and was shocked when my immune Dr. sent me for a sweat test. He then did a common genetics test. It was normal. My question is the opposite here. I appear to have all the symptoms. Bronchiectasis, lung problems, chronic bronchitis, just had gallbladder surgery, and have really bad GI problems. Should I get the full ambry test? If it shows nothing, should I then feel relieved and not worry? The reason I ask this is that I see the issues I have as typical for CF. I am 54 now. Can anyone provide input here? I don't want to appear a worrier, but I get so sick all the time. I am on antibiotics for????due to chronic sinusitis. I don't know what future help there is for me, antibiotics and prednisone aren't helpful now.
Thanks,
NZ

 

[nz]

Hi
I am new here and was shocked when my immune Dr. sent me for a sweat test. He then did a common genetics test. It was normal. My question is the opposite here. I appear to have all the symptoms. Bronchiectasis, lung problems, chronic bronchitis, just had gallbladder surgery, and have really bad GI problems. Should I get the full ambry test? If it shows nothing, should I then feel relieved and not worry? The reason I ask this is that I see the issues I have as typical for CF. I am 54 now. Can anyone provide input here? I don't want to appear a worrier, but I get so sick all the time. I am on antibiotics for????due to chronic sinusitis. I don't know what future help there is for me, antibiotics and prednisone aren't helpful now.
Thanks,
NZ

 

[nz]

Hi
<br />I am new here and was shocked when my immune Dr. sent me for a sweat test. He then did a common genetics test. It was normal. My question is the opposite here. I appear to have all the symptoms. Bronchiectasis, lung problems, chronic bronchitis, just had gallbladder surgery, and have really bad GI problems. Should I get the full ambry test? If it shows nothing, should I then feel relieved and not worry? The reason I ask this is that I see the issues I have as typical for CF. I am 54 now. Can anyone provide input here? I don't want to appear a worrier, but I get so sick all the time. I am on antibiotics for????due to chronic sinusitis. I don't know what future help there is for me, antibiotics and prednisone aren't helpful now.
<br />Thanks,
<br />NZ