Mutated form of CF

[michellex3]

Has anyone heard of a mutated for of CF in which babies and children do not gain weight normally. You see my daughter and son-in-law were recently diagnosed as carriers of CF and my granddaughter just went for her 15 month check-up and hasn't gained weight in over three months. She weighs in at 18 lbs is approximately 31 1/2 inches tall.

Her doc's office is setting up an appointment with a pediatric genesists to have a sweat test performed, however, I've read here on the forum, that many of these come back negative in one so young and that a blood test is better??

 

[michellex3]

Has anyone heard of a mutated for of CF in which babies and children do not gain weight normally. You see my daughter and son-in-law were recently diagnosed as carriers of CF and my granddaughter just went for her 15 month check-up and hasn't gained weight in over three months. She weighs in at 18 lbs is approximately 31 1/2 inches tall.

Her doc's office is setting up an appointment with a pediatric genesists to have a sweat test performed, however, I've read here on the forum, that many of these come back negative in one so young and that a blood test is better??

 

[michellex3]

Has anyone heard of a mutated for of CF in which babies and children do not gain weight normally. You see my daughter and son-in-law were recently diagnosed as carriers of CF and my granddaughter just went for her 15 month check-up and hasn't gained weight in over three months. She weighs in at 18 lbs is approximately 31 1/2 inches tall.

Her doc's office is setting up an appointment with a pediatric genesists to have a sweat test performed, however, I've read here on the forum, that many of these come back negative in one so young and that a blood test is better??

 

[Ratatosk]

I don't know what you mean by mutated form of CF, but one of the symptoms of cystic fibrosis can be failure to thrive -- difficulty gaining weight, loose stools...

And DS did have a normal result with his sweat test, but genetic blood testing showed CF.

 

[Ratatosk]

I don't know what you mean by mutated form of CF, but one of the symptoms of cystic fibrosis can be failure to thrive -- difficulty gaining weight, loose stools...

And DS did have a normal result with his sweat test, but genetic blood testing showed CF.

 

[Ratatosk]

I don't know what you mean by mutated form of CF, but one of the symptoms of cystic fibrosis can be failure to thrive -- difficulty gaining weight, loose stools...

And DS did have a normal result with his sweat test, but genetic blood testing showed CF.

 

[Emily65Roses]

I'm with Liza. Could it be that your doctor was talking about your granddaughter's CF mutations?

Failure to thrive (trouble gaining weight, etc), also as Liza said, is indeed a sign of CF.

Again, also as Liza said (lol), I'd go for a blood test. Sweat tests often come back negative, even when the child has CF.

 

[Emily65Roses]

I'm with Liza. Could it be that your doctor was talking about your granddaughter's CF mutations?

Failure to thrive (trouble gaining weight, etc), also as Liza said, is indeed a sign of CF.

Again, also as Liza said (lol), I'd go for a blood test. Sweat tests often come back negative, even when the child has CF.

 

[Emily65Roses]

I'm with Liza. Could it be that your doctor was talking about your granddaughter's CF mutations?

Failure to thrive (trouble gaining weight, etc), also as Liza said, is indeed a sign of CF.

Again, also as Liza said (lol), I'd go for a blood test. Sweat tests often come back negative, even when the child has CF.

 

[tammykrumrey]

Coming back negative would have nothing to do with the age of the child. My daughter had a positive sweat test at 2 weeks old. BUT one could come back negative if she carried certain mutations that do not always produce abnormal sweat test. Sometimes even common mutations can produce a negative sweat test.

Since both of her parents know what mutations they have, your granddaughter should be genetically tested, and look for those two mutations at the very least.

I am afraid that not gaining weight is a classic symptom of CF. My daughter was diagnosed at 14 months old, weighing only 18 pounds.

I hope all works out ok, and if it is a positive dx of CF, she will begin getting the treatments needed.

 

[tammykrumrey]

Coming back negative would have nothing to do with the age of the child. My daughter had a positive sweat test at 2 weeks old. BUT one could come back negative if she carried certain mutations that do not always produce abnormal sweat test. Sometimes even common mutations can produce a negative sweat test.

Since both of her parents know what mutations they have, your granddaughter should be genetically tested, and look for those two mutations at the very least.

I am afraid that not gaining weight is a classic symptom of CF. My daughter was diagnosed at 14 months old, weighing only 18 pounds.

I hope all works out ok, and if it is a positive dx of CF, she will begin getting the treatments needed.

 

[tammykrumrey]

Coming back negative would have nothing to do with the age of the child. My daughter had a positive sweat test at 2 weeks old. BUT one could come back negative if she carried certain mutations that do not always produce abnormal sweat test. Sometimes even common mutations can produce a negative sweat test.

Since both of her parents know what mutations they have, your granddaughter should be genetically tested, and look for those two mutations at the very least.

I am afraid that not gaining weight is a classic symptom of CF. My daughter was diagnosed at 14 months old, weighing only 18 pounds.

I hope all works out ok, and if it is a positive dx of CF, she will begin getting the treatments needed.

 

[bengismom]

My son ben has a really hard time with weight gain he is about 12 pd he is 8 1/2 months old he has been in the hospital since nov.6th his sweat test came back normal but his ambrey genetic dna test showed cf delta f508 mutaion duplication and 5t variant he is being sent home with hospice soon we have tried everything to make him gain weight.I would have the dna test done because many factors to have a nonreliable sweat test done! Their are many reasons to be worried that she is failure to thrive so i would suggest push now for the dna test because it takes a while to come back..............................................(hope shes doin okay.)

 

[bengismom]

My son ben has a really hard time with weight gain he is about 12 pd he is 8 1/2 months old he has been in the hospital since nov.6th his sweat test came back normal but his ambrey genetic dna test showed cf delta f508 mutaion duplication and 5t variant he is being sent home with hospice soon we have tried everything to make him gain weight.I would have the dna test done because many factors to have a nonreliable sweat test done! Their are many reasons to be worried that she is failure to thrive so i would suggest push now for the dna test because it takes a while to come back..............................................(hope shes doin okay.)

 

[bengismom]

My son ben has a really hard time with weight gain he is about 12 pd he is 8 1/2 months old he has been in the hospital since nov.6th his sweat test came back normal but his ambrey genetic dna test showed cf delta f508 mutaion duplication and 5t variant he is being sent home with hospice soon we have tried everything to make him gain weight.I would have the dna test done because many factors to have a nonreliable sweat test done! Their are many reasons to be worried that she is failure to thrive so i would suggest push now for the dna test because it takes a while to come back..............................................(hope shes doin okay.)

 

[michellex3]

Thank you all for replying.

What the doctor said was that my granddaughter may have a mutated form of CF and that one of the side effects is the failure to gain weight. She stated that CeCe would have a longer life span, however, it wouldn't be as long say someone without CF. What that means, I don't know. Will she live to be 60-75, who knows? I have more questions and hopefully once CeCe has the sweat test done and my daughter requests DNA testing we will know more.

The doctor did say they always prepare parents for the worst case scenerio because that's their job and if CeCe's results come back, not what we were all expecting, let's say better, than we have been prepared.

I'm just looking for answers to some of these questions in hopes that I can enlighten my daughter and son-in-law so they are prepared in case CeCe does test positive for some form of CF.

None of us have ever had anything like this in our family. We have diabetes, but that's about it, except the complications that come with old age. On my dad's side, he's 61, my great-grandmother lived to be 90, his mother lived to be 87 and his father lived to be 85. On my mom's side, she's 61 as well, my grandmother is still alive and kicking at 93, my grandfather passed at 87, both my aunts are still alive and are in their 70's.

We currently have five (5) generations in our family: My grandmother, mother, myself, my daughter and my granddaughter. So having to accept that one of ours is sick, at such an early age, is hard. There are lot of prayers and family togetherness to work through this, on my side, and I can only hope if CeCe does have CF her other grandmother, father's side, comes together as a support group for the kids.

 

[michellex3]

Thank you all for replying.

What the doctor said was that my granddaughter may have a mutated form of CF and that one of the side effects is the failure to gain weight. She stated that CeCe would have a longer life span, however, it wouldn't be as long say someone without CF. What that means, I don't know. Will she live to be 60-75, who knows? I have more questions and hopefully once CeCe has the sweat test done and my daughter requests DNA testing we will know more.

The doctor did say they always prepare parents for the worst case scenerio because that's their job and if CeCe's results come back, not what we were all expecting, let's say better, than we have been prepared.

I'm just looking for answers to some of these questions in hopes that I can enlighten my daughter and son-in-law so they are prepared in case CeCe does test positive for some form of CF.

None of us have ever had anything like this in our family. We have diabetes, but that's about it, except the complications that come with old age. On my dad's side, he's 61, my great-grandmother lived to be 90, his mother lived to be 87 and his father lived to be 85. On my mom's side, she's 61 as well, my grandmother is still alive and kicking at 93, my grandfather passed at 87, both my aunts are still alive and are in their 70's.

We currently have five (5) generations in our family: My grandmother, mother, myself, my daughter and my granddaughter. So having to accept that one of ours is sick, at such an early age, is hard. There are lot of prayers and family togetherness to work through this, on my side, and I can only hope if CeCe does have CF her other grandmother, father's side, comes together as a support group for the kids.

 

[michellex3]

Thank you all for replying.

What the doctor said was that my granddaughter may have a mutated form of CF and that one of the side effects is the failure to gain weight. She stated that CeCe would have a longer life span, however, it wouldn't be as long say someone without CF. What that means, I don't know. Will she live to be 60-75, who knows? I have more questions and hopefully once CeCe has the sweat test done and my daughter requests DNA testing we will know more.

The doctor did say they always prepare parents for the worst case scenerio because that's their job and if CeCe's results come back, not what we were all expecting, let's say better, than we have been prepared.

I'm just looking for answers to some of these questions in hopes that I can enlighten my daughter and son-in-law so they are prepared in case CeCe does test positive for some form of CF.

None of us have ever had anything like this in our family. We have diabetes, but that's about it, except the complications that come with old age. On my dad's side, he's 61, my great-grandmother lived to be 90, his mother lived to be 87 and his father lived to be 85. On my mom's side, she's 61 as well, my grandmother is still alive and kicking at 93, my grandfather passed at 87, both my aunts are still alive and are in their 70's.

We currently have five (5) generations in our family: My grandmother, mother, myself, my daughter and my granddaughter. So having to accept that one of ours is sick, at such an early age, is hard. There are lot of prayers and family togetherness to work through this, on my side, and I can only hope if CeCe does have CF her other grandmother, father's side, comes together as a support group for the kids.

 

[JazzysMom]

I dont like how the doctor worded things with a "mutated form of cf". The gene mutations that cause CF are defected which basically means "everyone per say" carries CF genes, but only the ones who carry the "defective" genes that actually cause the illness are considered carriers. Failure to thrive, difficulty gaining weight etc are common symptoms with many of the known gene mutations for CF. Personally I dont think HOW the doctor said it matters. What it comes down to is that your daughter & SIL are known carriers and your grandchild has symptoms indicating she might actually have CF. A sweat test is the usual first step tho since the parents know their gene mutations, I would think it would be safer/more reliable to have your granddaughter tested for these 2 gene mutations. Sweat tests are becoming less reliable or apparently so I should say!

 

[JazzysMom]

I dont like how the doctor worded things with a "mutated form of cf". The gene mutations that cause CF are defected which basically means "everyone per say" carries CF genes, but only the ones who carry the "defective" genes that actually cause the illness are considered carriers. Failure to thrive, difficulty gaining weight etc are common symptoms with many of the known gene mutations for CF. Personally I dont think HOW the doctor said it matters. What it comes down to is that your daughter & SIL are known carriers and your grandchild has symptoms indicating she might actually have CF. A sweat test is the usual first step tho since the parents know their gene mutations, I would think it would be safer/more reliable to have your granddaughter tested for these 2 gene mutations. Sweat tests are becoming less reliable or apparently so I should say!