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Delta f508 with 5t?
- Thread starter morriss
- Start date
One of my son's mutations is a 5T variant. It says right on his genetic report that 5T variants have been shown to be asymptomatic, mildly symptomatic, or typical CF. The diagnosis of CF is truly a clinical decision, not only a genetic one. My son's results said "cannot rule out CF." One clinic we took used for the sweat test and genetic testing told me when they called with his genetic results that he has two mutations but "we don't consider it to be CF." His sweat test was borderline. We went to another clinic where he had a full work-up and the pulmonologist was with us for over an hour reviewing his medical history. She diagnosed him with CF variant. He has been doing so much better since he started treatment, esp. enzymes. If your baby has any symptoms or begins to show symptoms, I would recommend getting him evaluated at an accreditted CF center by a doctor--
One of my son's mutations is a 5T variant. It says right on his genetic report that 5T variants have been shown to be asymptomatic, mildly symptomatic, or typical CF. The diagnosis of CF is truly a clinical decision, not only a genetic one. My son's results said "cannot rule out CF." One clinic we took used for the sweat test and genetic testing told me when they called with his genetic results that he has two mutations but "we don't consider it to be CF." His sweat test was borderline. We went to another clinic where he had a full work-up and the pulmonologist was with us for over an hour reviewing his medical history. She diagnosed him with CF variant. He has been doing so much better since he started treatment, esp. enzymes. If your baby has any symptoms or begins to show symptoms, I would recommend getting him evaluated at an accreditted CF center by a doctor--
One of my son's mutations is a 5T variant. It says right on his genetic report that 5T variants have been shown to be asymptomatic, mildly symptomatic, or typical CF. The diagnosis of CF is truly a clinical decision, not only a genetic one. My son's results said "cannot rule out CF." One clinic we took used for the sweat test and genetic testing told me when they called with his genetic results that he has two mutations but "we don't consider it to be CF." His sweat test was borderline. We went to another clinic where he had a full work-up and the pulmonologist was with us for over an hour reviewing his medical history. She diagnosed him with CF variant. He has been doing so much better since he started treatment, esp. enzymes. If your baby has any symptoms or begins to show symptoms, I would recommend getting him evaluated at an accreditted CF center by a doctor--
Thanks for your response. Being only six weeks old he isn't showing any classic signs. He is gaining weight each week. His diapers seem a little sticky at times. No noticeable wheezing. We will see another specialist in the next week or two. If you don't mind me asking when did you start to see symptoms? and Are you performing percussions as well as enzyme treatments?
Thanks for your response. Being only six weeks old he isn't showing any classic signs. He is gaining weight each week. His diapers seem a little sticky at times. No noticeable wheezing. We will see another specialist in the next week or two. If you don't mind me asking when did you start to see symptoms? and Are you performing percussions as well as enzyme treatments?
Thanks for your response. Being only six weeks old he isn't showing any classic signs. He is gaining weight each week. His diapers seem a little sticky at times. No noticeable wheezing. We will see another specialist in the next week or two. If you don't mind me asking when did you start to see symptoms? and Are you performing percussions as well as enzyme treatments?
Adam was not diagnosed until this past February---at age 14!!! He started to have severe gastro problems last August--lost 15 lbs and became very weak. No one thought to check for CF because of his age. After the genetic sequencing came back, he started on enzymes right away. He has improved tremendously. The pulmonologist at the CF center thinks that some of his asthma and other upper respiratory problems in his past (he was dx with asthma at age 2--3 hospital trips for that; pneumonia once) were probably partially CF related, but obviously pretty mild. We only do chest PT when he has an upper respiratory infection. His PFT's are around 80-82% pretty consistently so his lung involvement right now is pretty minimal.
It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
Adam was not diagnosed until this past February---at age 14!!! He started to have severe gastro problems last August--lost 15 lbs and became very weak. No one thought to check for CF because of his age. After the genetic sequencing came back, he started on enzymes right away. He has improved tremendously. The pulmonologist at the CF center thinks that some of his asthma and other upper respiratory problems in his past (he was dx with asthma at age 2--3 hospital trips for that; pneumonia once) were probably partially CF related, but obviously pretty mild. We only do chest PT when he has an upper respiratory infection. His PFT's are around 80-82% pretty consistently so his lung involvement right now is pretty minimal.
It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
Adam was not diagnosed until this past February---at age 14!!! He started to have severe gastro problems last August--lost 15 lbs and became very weak. No one thought to check for CF because of his age. After the genetic sequencing came back, he started on enzymes right away. He has improved tremendously. The pulmonologist at the CF center thinks that some of his asthma and other upper respiratory problems in his past (he was dx with asthma at age 2--3 hospital trips for that; pneumonia once) were probably partially CF related, but obviously pretty mild. We only do chest PT when he has an upper respiratory infection. His PFT's are around 80-82% pretty consistently so his lung involvement right now is pretty minimal.
<br />
<br />It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
<br />
<br />It is tough not knowing what path the disease will take--we will continue to be optimistic that the relatively mild presentation he has had so far will continue!!
Hi Morriss,
I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
Keelan
I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
Keelan
Hi Morriss,
I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
Keelan
I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
Keelan
Hi Morriss,
<br />
<br />I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
<br />
<br />My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
<br />
<br />Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
<br />
<br />Keelan
<br />
<br />I lurk on these forums on occasion, but I created an account just so I can respond to your post and reassure you.
<br />
<br />My 36 year old husband has CF with those same mutations, which are considered atypical CF. He was just diagnosed in 2007 after we were trying (and failing) to get pregnant. He had no other symptoms besides the infertility (which is common in almost all men with CF). After seeing a couple specialists, one suggested doing a sweat test (which was positive) and then a genetic test (which finalized the diagnosis). His lungs are perfect, he's very athletic, and he's had absolutely no symptoms CF other than the infertility. At this point, we do annual check ups with his doctor, but no treatment or meds.
<br />
<br />Obviously, CF can really vary from individual to individual, but I wanted to let you know what his experience has been with this particular mutation. We live a very happy and fulfilled life. Personally, we have elected to not pursue fertility treatments (IVF with ICSI) because we don't want to risk having me pass on a rare mutation and having a child with a potentially more serious type of CF. I have a child from a previous relationship, and my husband has adopted him. As a mom myself, I know how much I'd worry about my son's health if he had CF. But I wanted to post and reassure you that the 5T mutation has resulted in my husband's life having been minimally impacted so far from CF. We don't know what the future holds, but we're optimistic.
<br />
<br />Keelan
Hi 2 years ago my daughter tested same genes as your child. SHe was diagnosed with mild CF. She is on pulmozyne, vitamin D, accupella, albuterol, nettipot 3X a day and flonase. She has sinus issues not yet attacked her lungs. Your child should be monitored through a CF clinic in your area. Chances are your child will not have any symptoms or very mild. But watchful eye on this may prevent lung infection.
Hi 2 years ago my daughter tested same genes as your child. SHe was diagnosed with mild CF. She is on pulmozyne, vitamin D, accupella, albuterol, nettipot 3X a day and flonase. She has sinus issues not yet attacked her lungs. Your child should be monitored through a CF clinic in your area. Chances are your child will not have any symptoms or very mild. But watchful eye on this may prevent lung infection.
Hi 2 years ago my daughter tested same genes as your child. SHe was diagnosed with mild CF. She is on pulmozyne, vitamin D, accupella, albuterol, nettipot 3X a day and flonase. She has sinus issues not yet attacked her lungs. Your child should be monitored through a CF clinic in your area. Chances are your child will not have any symptoms or very mild. But watchful eye on this may prevent lung infection.