Carriers symptoms..?

[imported_Momto2]

I'm DD508, so my parents are no doubt each a D508 carrier. My mom has always has some mild GI upset issues, sinus issues, and gets hit with bonchitis pretty hard every other year, some asthma. My dad has some minor stuff, but does seem to geta lot of colds, and he had a pulmonary embolism 10 years ago. My sibs (who in 1971 tested neg on the sweat test, and have NOT had genetic testing for carrier status) both had bad allergies and sinus issues, some mild asthma, chronic cough in my sis sometimes during the winter, and GI issues. Type II diabetes and cancer is also rampant in my family. Fascinating. And scary.

 

[Swallowtail66]

If you have symptoms and a family member with Cf, you should have the full genetic mapping. I was 36 when my children were diagnosed with CF and they had different genetics. Me! I gave each of them something different. My genetics are not text book, but they made CF babies and I have almost all the symptoms so I get treated. I am so much healthier now than I was before the diagnosis. You fight for your children. Fight for yourself so you are always around to fight for them. It is a blood test that could change your quality of life forever.

 

[Swallowtail66]

If you have symptoms and a family member with Cf, you should have the full genetic mapping. I was 36 when my children were diagnosed with CF and they had different genetics. Me! I gave each of them something different. My genetics are not text book, but they made CF babies and I have almost all the symptoms so I get treated. I am so much healthier now than I was before the diagnosis. You fight for your children. Fight for yourself so you are always around to fight for them. It is a blood test that could change your quality of life forever.

 

[SARAHSARAH253]

I'm 100% that my lil sister MUST be a carrier with allot of classic CF symptoms. She had sweat tests done as a child, but was always negative. She was hospitalized several times as a child for her severe asthma. The poor thing has to use the restroom 15 min after eating a cheeseburger. I firmly believe this can be true.


Sarah

 

[SARAHSARAH253]

I'm 100% that my lil sister MUST be a carrier with allot of classic CF symptoms. She had sweat tests done as a child, but was always negative. She was hospitalized several times as a child for her severe asthma. The poor thing has to use the restroom 15 min after eating a cheeseburger. I firmly believe this can be true.


Sarah

 

[Jessesmom]

Glad you brought this up! I my family (I have 5 kids) we have carriers of the DF508 too (tested by CF centre), had normal sweat tests, been tested for celiac etc.
Our kids have used Nebulizers, one has asthma and has a puffer, and is on Singulair, two were off the growth chart and were diagnosed with Failure to Thrive. We've seen dieticians..... I also am wondering the same thing! Only problem is, here in Canada they only test for 40 mutations through newborn screening, then 80 mutations as follow-up genetic testing. So they are supposedly confirmed carriers, but who knows they may have CF

 

[Jessesmom]

Glad you brought this up! I my family (I have 5 kids) we have carriers of the DF508 too (tested by CF centre), had normal sweat tests, been tested for celiac etc.
Our kids have used Nebulizers, one has asthma and has a puffer, and is on Singulair, two were off the growth chart and were diagnosed with Failure to Thrive. We've seen dieticians..... I also am wondering the same thing! Only problem is, here in Canada they only test for 40 mutations through newborn screening, then 80 mutations as follow-up genetic testing. So they are supposedly confirmed carriers, but who knows they may have CF

 

[Helenlight]

This is really interesting.
My daughter was diagnosed recently with D508x2 mutations. Reading through these so-called 'carrier sypmptoms', many of them are very familiar. I had asthma as a child, and episodes of very bad eczema. I've always had digestive issues, with particular problems with dairy and grains. I get hayfever and I have food allergies. My partner also suffers from gut issues and eczema/dermatitis. My father (we don't know if he is the carrier of my parents yet) suffers from almost identical symptoms as me, minus the food allergies.
My first incling would be that all people with any CF gene probably have a similar ancestry, and thus have other common genes and symptoms. Perhaps many of us have genes that mean we can't digest milk for instance, or are allergic to grasses/grains?
I find it all very interesting, and look forward to what further research uncovers...!

 

[Helenlight]

This is really interesting.
My daughter was diagnosed recently with D508x2 mutations. Reading through these so-called 'carrier sypmptoms', many of them are very familiar. I had asthma as a child, and episodes of very bad eczema. I've always had digestive issues, with particular problems with dairy and grains. I get hayfever and I have food allergies. My partner also suffers from gut issues and eczema/dermatitis. My father (we don't know if he is the carrier of my parents yet) suffers from almost identical symptoms as me, minus the food allergies.
My first incling would be that all people with any CF gene probably have a similar ancestry, and thus have other common genes and symptoms. Perhaps many of us have genes that mean we can't digest milk for instance, or are allergic to grasses/grains?
I find it all very interesting, and look forward to what further research uncovers...!

 

[Eirin27]

I am 27 I am a carrier(one DF508 gene),I have a 5 years old son who has cystic fibrosis (DF508 in both genes) and a 3,5 year old daughter who is a carrier too.I didnt have any cystic fibrosis related symptoms in my life,only 4 years ago i was diagnosed with ulcerative collitis.My daughter is healthy too.I did a prenatal testing when i was pregnant in her -chorionic vilus sampling -and there we found she was a carrier.My son is doing quite well .Exept from small colds and that he has to take enzymes ,antiviotics and vitamins(A,D,E) he has no other serious problem.

 

[Eirin27]

I am 27 I am a carrier(one DF508 gene),I have a 5 years old son who has cystic fibrosis (DF508 in both genes) and a 3,5 year old daughter who is a carrier too.I didnt have any cystic fibrosis related symptoms in my life,only 4 years ago i was diagnosed with ulcerative collitis.My daughter is healthy too.I did a prenatal testing when i was pregnant in her -chorionic vilus sampling -and there we found she was a carrier.My son is doing quite well .Exept from small colds and that he has to take enzymes ,antiviotics and vitamins(A,D,E) he has no other serious problem.

 

[Taylersmom]

I have thought for some time that carriers may have some symptoms... My daughter is a carrier and she has always had serious digestion issues. I am a carrier (obviously lol) and I too have always suffered with stomache issues, especially after any kind of greasy foods. They have labeled anything form IBS to Diverticulitis.. I also use to suffer horribly from bronchitis as a child. I would end up in the hospital almost every year until I was about 14. I do not have as bad bronchitis issues now..(very mild in fact) but I do have the stomache issues and so does my daughter... I do not think they have done enough research on carrrier related issues, on any disorder! I am glad to hear i am not the only one who has thought this!! Thx for being open and honest everyone!

 

[Taylersmom]

I have thought for some time that carriers may have some symptoms... My daughter is a carrier and she has always had serious digestion issues. I am a carrier (obviously lol) and I too have always suffered with stomache issues, especially after any kind of greasy foods. They have labeled anything form IBS to Diverticulitis.. I also use to suffer horribly from bronchitis as a child. I would end up in the hospital almost every year until I was about 14. I do not have as bad bronchitis issues now..(very mild in fact) but I do have the stomache issues and so does my daughter... I do not think they have done enough research on carrrier related issues, on any disorder! I am glad to hear i am not the only one who has thought this!! Thx for being open and honest everyone!

 

[hmw]

It makes me crazy, because it flies in the face of the whole 'recessive disease' thing where one mutation should be completely suppressed by the healthy gene, but it is what it is- CF carriers can absolutely be symptomatic. It's still an evolving dx- enter CRMS for example. DF508 carriers are known to be especially affected and associated with somewhat higher sweat tests and a lot of sinusitis for example, although its certainly not limited to this mutation or those issues.

My son is a carrier and has now been dx'ed with CRMS due to severity of symptoms that have developed over the last 2 years. He is especially complicated though as we cannot genetically rule out CF. if he ever cultures PA or anything else particularly nasty, his pft's continue to tank or he develops more symptoms than he already has we are going to assume he has the unknown 2nd mutation his sister has and the dx will change to CF.

 

[hmw]

It makes me crazy, because it flies in the face of the whole 'recessive disease' thing where one mutation should be completely suppressed by the healthy gene, but it is what it is- CF carriers can absolutely be symptomatic. It's still an evolving dx- enter CRMS for example. DF508 carriers are known to be especially affected and associated with somewhat higher sweat tests and a lot of sinusitis for example, although its certainly not limited to this mutation or those issues.

My son is a carrier and has now been dx'ed with CRMS due to severity of symptoms that have developed over the last 2 years. He is especially complicated though as we cannot genetically rule out CF. if he ever cultures PA or anything else particularly nasty, his pft's continue to tank or he develops more symptoms than he already has we are going to assume he has the unknown 2nd mutation his sister has and the dx will change to CF.

 

[suey70]

Well here we go again. I never did the whole AMBRY testing to check for other mutations. I have to see if my insurance convers. My middle daughter is sick again and this time with double pheunomia. I don't even know how many times she has missed school this year.

 

[Chris Allen Thomas]

I have the delta508 mutation and am a carrier. I have been tested for a wide range of other less common mutations, so I know with reasonable certainty that I do not have a second mutation.

I have a range of issues that I am just now putting together as possibly related to the idea of carrier symptoms.
*One confirmed bout of acute pancreatitis
*chronic and severe IBS symptoms
*intermittent hyperparathyroidism
*salivary gland stones

 

[Dowling]

I have three children 5,4 and 1 (crazy I know)! The one year old has CF. typical story, we had no idea it ran in either family. Had all three sweat tested at PCH 5 year old # was 12! 4 year old # was 17!, 1 yr old was#87. My question now has always been about my oldest; he has never even had a cold, no digestive issues, but he is tiny! He is a picky eater. As a baby he was in the 50% and since then dwindles in between 7-3 %. And u put him in the bath and he is instantly a prune AND I MEAN A GROSS PRUNE. He doesn't taste salty, no allergies or asthma. I've asked the clinic and they keep saying no since he was screened at birth and sweat tested. Now I'm wondering if he's just a carrier with mild symptoms . I do wonder if enzymes would help him beef up a little bit. He barely eats, but I wonder sometimes if that's because eating gives him tummy issues. He never tells me that, but my 3 yr old doesn't prune that way in the tub, nor do I....... Thoughts ... Or am I just psycho

 

[Printer]

Yes, he should be tested. Digestive issues (inability to process fats & protein) will give him "tummy issues". Newborn screening is typically for the most common defects, only 32. There are almost 2000 known mutations. He has only been tested for 32. Was his sweat test done at a CF Center?

Bill

 

[Dowling]

Yes he was tested at Phoenix children's hospital, they have an awesome cf center where my one year old goes. He has been sweat tested twice with single digit number results! Again, he has no bathroom issues, no allergies, no health issues other than he's skinny. Our pediatrician is VERY familia with CF ( that's why we chose him) and he said not to worry) I had discussed the pruning in the tub. My son is definitely old enough to tell me if his tummy hurts and he never says anything