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2 Class V Mutations?
- Thread starter dkstar18
- Start date
You could post this in the ask ambry section; however, it's hard to really predict timing of symptoms in terms of age. Sometimes there are siblings (same mutations) who have very very different symptoms. Other things to take into effect are age of diagnosis, infections, proactive vs. reactive treatment, nutrition....
DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
You could post this in the ask ambry section; however, it's hard to really predict timing of symptoms in terms of age. Sometimes there are siblings (same mutations) who have very very different symptoms. Other things to take into effect are age of diagnosis, infections, proactive vs. reactive treatment, nutrition....
DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
You could post this in the ask ambry section; however, it's hard to really predict timing of symptoms in terms of age. Sometimes there are siblings (same mutations) who have very very different symptoms. Other things to take into effect are age of diagnosis, infections, proactive vs. reactive treatment, nutrition....
<br />
<br />DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
<br />
<br />DS was diagnosed at birth due to a bowel obstruction; however, a friend of mine's daughter with the same mutations wasn't diagnosed until she was 18 months old. Her child had a couple of bouts of bronchitis and constipation issues. DS had issues with very loose stools, sinus issues and pretty much no lung issues.
E
edan
Guest
My daughter has a class v and it is disease causing with her class 2. Usually paired with another class v, a class v is very mild to non-existent. However, a clinic told me of two siblings with two class v's and they have significant lung damage in their 20's. Post the mutations To steve at ambry and see what he says. What are they?
E
edan
Guest
My daughter has a class v and it is disease causing with her class 2. Usually paired with another class v, a class v is very mild to non-existent. However, a clinic told me of two siblings with two class v's and they have significant lung damage in their 20's. Post the mutations To steve at ambry and see what he says. What are they?
E
edan
Guest
My daughter has a class v and it is disease causing with her class 2. Usually paired with another class v, a class v is very mild to non-existent. However, a clinic told me of two siblings with two class v's and they have significant lung damage in their 20's. Post the mutations To steve at ambry and see what he says. What are they?
Thanks so much for the responses. the 2 mutations are F1052V and C.812 T >G, both rare, the latter only seen in 1 other patient in the database! One of the reasons why we're having trouble getting info.
The whole thing has been a real shocker. Our son has actually been healthy. We were at a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over a sinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF. Not knowing much, I ended up at a an unaccredited lab which yielded a high, but negative result. To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
The whole thing has been a real shocker. Our son has actually been healthy. We were at a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over a sinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF. Not knowing much, I ended up at a an unaccredited lab which yielded a high, but negative result. To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
Thanks so much for the responses. the 2 mutations are F1052V and C.812 T >G, both rare, the latter only seen in 1 other patient in the database!One of the reasonswhy we're having trouble getting info.
The whole thing has been a real shocker. Our son has actually been healthy. We wereat a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over asinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF.Not knowing much, Iended up at aan unaccredited lab which yielded a high, but negative result.To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
The whole thing has been a real shocker. Our son has actually been healthy. We wereat a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over asinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF.Not knowing much, Iended up at aan unaccredited lab which yielded a high, but negative result.To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
<p>Thanks so much for the responses. the 2 mutations are F1052V and C.812 T >G, both rare, the latter only seen in 1 other patient in the database!One of the reasonswhy we're having trouble getting info.
<p>The whole thing has been a real shocker. Our son has actually been healthy. We wereat a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over asinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF.Not knowing much, Iended up at aan unaccredited lab which yielded a high, but negative result.To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
<p>
<p>The whole thing has been a real shocker. Our son has actually been healthy. We wereat a follow up visit at the immunoligist in January for an unrelated issue when i mentioned our son was getting over asinus infection (his 2nd cold of the season). he suggested a sweat test to rule out CF.Not knowing much, Iended up at aan unaccredited lab which yielded a high, but negative result.To "ease our minds" the Dr. suggested we just go for a genetic test, and despite a definitively negative sweat test in the interim, here we are. Total shock!
<p>
In what I could find on the F1052V mutation, it has been associated with babies getting a false-negative result on the newborn screen. It appears to be a disease-causing mutation, but one perhaps associated with milder presentation. However, there is great variability with CF and it really can go in any direction. It's very good that you now know, so you can take appropriate care- whatever is going on with him that made the immunologist think of CF (something must have jumped out at him beyond a couple colds; nearly everyone gets 2 colds in the space of one cold/flu season- did they persist an overly long time or develop into severe secondary infection? was it the quality of his cough? specific sinus issues?) is hopefully something that can be addressed with preventative care.
Has he yet had a sweat test at an accredited center?
Wishing you the best- welcome!
Has he yet had a sweat test at an accredited center?
Wishing you the best- welcome!
In what I could find on the F1052V mutation, it has been associated with babies getting a false-negative result on the newborn screen. It appears to be a disease-causing mutation, but one perhaps associated with milder presentation. However, there is great variability with CF and it really can go in any direction. It's very good that you now know, so you can take appropriate care- whatever is going on with him that made the immunologist think of CF (something must have jumped out at him beyond a couple colds; nearly everyone gets 2 colds in the space of one cold/flu season- did they persist an overly long time or develop into severe secondary infection? was it the quality of his cough? specific sinus issues?) is hopefully something that can be addressed with preventative care.
Has he yet had a sweat test at an accredited center?
Wishing you the best- welcome!
Has he yet had a sweat test at an accredited center?
Wishing you the best- welcome!
In what I could find on the F1052V mutation, it has been associated with babies getting a false-negative result on the newborn screen. It appears to be a disease-causing mutation, but one perhaps associated with milder presentation. However, there is great variability with CF and it really can go in any direction. It's very good that you now know, so you can take appropriate care- whatever is going on with him that made the immunologist think of CF (something must have jumped out at him beyond a couple colds; nearly everyone gets 2 colds in the space of one cold/flu season- did they persist an overly long time or develop into severe secondary infection? was it the quality of his cough? specific sinus issues?) is hopefully something that can be addressed with preventative care.
<br />
<br />Has he yet had a sweat test at an accredited center?
<br />Wishing you the best- welcome!
<br />
<br />Has he yet had a sweat test at an accredited center?
<br />Wishing you the best- welcome!
Actually, when I later (after the 1st sweat test) asked the Dr. what made him order the sweat test , he said it was the sinus infection in a kid with a history of asmtha or pneumonia. Ironically- my son has no history of either. The Dr. actually admitted he was confused regarding my sons history and wouldn't have ordered the test for only 1 sinus infection, so the whole thing is pretty crazy. We did have a 2nd sweat test at a cf center which resulted in a 14. They sent us home with a clean bill of health. We didn't even realize there was still a full gene sequence still out there until 8 weeks later when we got the bad news. We are seeing a CF specialist now, so hopefully we're in good hands now. Thanks for all the responses.
Actually, when I later (after the 1st sweat test) asked the Dr. what made him order the sweat test , he said it was the sinus infection in a kid with a history of asmtha or pneumonia.Ironically- my son has no history of either. The Dr. actually admitted he was confused regarding my sons history and wouldn't have ordered the test for only 1 sinus infection, so the whole thing is pretty crazy. We did have a 2nd sweat test at a cf center which resulted in a 14. They sent us home with a clean bill of health. We didn't even realize there was still a full gene sequence still out there until 8 weeks later when we got the bad news. We are seeing a CF specialist now, so hopefully we're in good hands now. Thanks for all the responses.