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Anyone with single mutation w/CF symptoms?
- Thread starter fkewatson
- Start date
S
Swallowtail66
Guest
I don't have typical genetics, but definitely have life long symptoms.I have two M470V double polymorphisms, a 5t variant and a 7t variant. I receive (atypical) CF treatment. Mutations, polymorphisms, and variants can cause a decline in function and at a certain level of function, you get symptoms. Common thought is that 50% of function - "carrier" status is fine...but is it fine for all organ systems? Next, my oldest was the first person ever recorded to have a 749 delete T mutation. Spontaneous mutation they say. Who is to say that that hasn't happened with your daughter? Treatment is more important than diagnosis. Find someone who will treat the symptoms with CF in mind. 10 years from now when they know more you don't want to have let the docs not treat your kid and then diagnose her with CF. My youngest came out of the womb with a 99% chance of CF due to her birth defect and they told me she was the 1% so she got NO treatment for 6 years until her sister was diagnosed with CF and all of a sudden, she was too.
S
Swallowtail66
Guest
I don't have typical genetics, but definitely have life long symptoms.I have two M470V double polymorphisms, a 5t variant and a 7t variant. I receive (atypical) CF treatment. Mutations, polymorphisms, and variants can cause a decline in function and at a certain level of function, you get symptoms. Common thought is that 50% of function - "carrier" status is fine...but is it fine for all organ systems? Next, my oldest was the first person ever recorded to have a 749 delete T mutation. Spontaneous mutation they say. Who is to say that that hasn't happened with your daughter? Treatment is more important than diagnosis. Find someone who will treat the symptoms with CF in mind. 10 years from now when they know more you don't want to have let the docs not treat your kid and then diagnose her with CF. My youngest came out of the womb with a 99% chance of CF due to her birth defect and they told me she was the 1% so she got NO treatment for 6 years until her sister was diagnosed with CF and all of a sudden, she was too.
S
Swallowtail66
Guest
We are all doing okay. For CF we are super. I complain on here once in a while when I am down, but I know I am blessed. My biggest symptoms that I have complained about recently have just been confirmed to be a turtuous colon (a big ball of twisted colon) that may have nothing even to do with CF. Bottom line, go with your gut and stay on the docs. You should see my kids pediatric records. I made them treat every symptom as it came up...I was even accused of being a crazy mother trying to make my kids sick. However, when the diagnosis finally came, they were still very healthy with very little damage to their systems. I had them sweat tested and genetically tested and everything documented. One day a very astute doc put it together. The genetic mapping technology was only a couple of months old at the time. He tested both kids and their genetics came back positive, but different.They had the same dad so that left me with two funky alleles. I had been carrier tested when I was pregnant with the youngest and was supposed to not be a carrier. Also, CF is affected by genetic mutations on other genes such as HLA, the gene that carries mutations for autoimmune diseases. My family has multiple autoimmune diseases so our HLA is probably contributing as well. You can check to see it any of the problems could have specific genes that may contribute to the overall level of disease. Good luck, God bless, and never give up.
S
Swallowtail66
Guest
We are all doing okay. For CF we are super. I complain on here once in a while when I am down, but I know I am blessed. My biggest symptoms that I have complained about recently have just been confirmed to be a turtuous colon (a big ball of twisted colon) that may have nothing even to do with CF. Bottom line, go with your gut and stay on the docs. You should see my kids pediatric records. I made them treat every symptom as it came up...I was even accused of being a crazy mother trying to make my kids sick. However, when the diagnosis finally came, they were still very healthy with very little damage to their systems. I had them sweat tested and genetically tested and everything documented. One day a very astute doc put it together. The genetic mapping technology was only a couple of months old at the time. He tested both kids and their genetics came back positive, but different.They had the same dad so that left me with two funky alleles. I had been carrier tested when I was pregnant with the youngest and was supposed to not be a carrier. Also, CF is affected by genetic mutations on other genes such as HLA, the gene that carries mutations for autoimmune diseases. My family has multiple autoimmune diseases so our HLA is probably contributing as well. You can check to see it any of the problems could have specific genes that may contribute to the overall level of disease. Good luck, God bless, and never give up.
P
patrish22
Guest
Your son is not alone. My children have CF and both their father and I exhibit CF symptoms but do not have CF. I have absorption issues, (vitamin D & E), if I eat something fatty I get large very smelly stool. If I get a cold I immediately get bronchitis, and if I don't take care I easily go into pneumonia. I also have had some pancreatic issues, even thoughI am a healthy weight and very careful with my diet ( healthy carb intake and staying away from refined sugars, the ADA diet is good for this) I borderline diabetes. I also have asthma. At our clinic the doctor has said that they have seen other carriers exhibit symptoms.
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patrish22
Guest
Your son is not alone. My children have CF and both their father and I exhibit CF symptoms but do not have CF. I have absorption issues, (vitamin D & E), if I eat something fatty I get large very smelly stool. If I get a cold I immediately get bronchitis, and if I don't take care I easily go into pneumonia. I also have had some pancreatic issues, even thoughI am a healthy weight and very careful with my diet ( healthy carb intake and staying away from refined sugars, the ADA diet is good for this) I borderline diabetes. I also have asthma. At our clinic the doctor has said that they have seen other carriers exhibit symptoms.
Swallowtail66, can you explain to me a bit more about allelles? I know each parent contributes one CFTR gene but do they also contribute variants? We have rampant autoimmune disease in our family. I have Grave's, my sister has SLE (Lupus) and my cousin has some unusual eye disease (going blind) (also autoimmune) and she has Hashimoto's (autoimmune) and both my parents are diabetic (type II but still). On my husband's side, his sister has Raynaud's and had to move to a warmer climate as a result, his maternal GM died of Grave's and His father has Lupus too. So, when my daughter was dx with JRA (juvenile arthritis) I was really not surprised, but to add to the mix ruling out CF, I was floored since noone in the family has CF. (not that that matters, you don't know unless tested). When she came back as "just " a carrier, but with many Resp. issues that are still unresolved, and asthma therapy is sort of helping, but never halted her mucusy cough, I knew there's got to be more to it than meets the eye. Also, incidently, she was dx with JRA AND had all the lung issues crop up within only 2 months of each other. Maybe something genetic triggered something? All I know is, my daughter has not been the same since, and I am still very worried about her. She does not seem to have digestive issues perse, but is on prevacid for heartburn, and does c/o stomach pain frequently. However, she is very very small for her age. (her brother who is 2.5 years younger than her, age 5 is now an inch taller)... she is 110cm and 40 pounds. Age 8! I am very interested to know if you can tell me more about the HLA.. is it a protein? gene? other? How do you think the HLA thing interplays with the severe asthma and JRA diagnosis and the CF one mutant gene? Thank you!!!
Swallowtail66, can you explain to me a bit more about allelles? I know each parent contributes one CFTR gene but do they also contribute variants? We have rampant autoimmune disease in our family. I have Grave's, my sister has SLE (Lupus) and my cousin has some unusual eye disease (going blind) (also autoimmune) and she has Hashimoto's (autoimmune) and both my parents are diabetic (type II but still). On my husband's side, his sister has Raynaud's and had to move to a warmer climate as a result, his maternal GM died of Grave's and His father has Lupus too. So, when my daughter was dx with JRA (juvenile arthritis) I was really not surprised, but to add to the mix ruling out CF, I was floored since noone in the family has CF. (not that that matters, you don't know unless tested). When she came back as "just " a carrier, but with many Resp. issues that are still unresolved, and asthma therapy is sort of helping, but never halted her mucusy cough, I knew there's got to be more to it than meets the eye. Also, incidently, she was dx with JRA AND had all the lung issues crop up within only 2 months of each other. Maybe something genetic triggered something? All I know is, my daughter has not been the same since, and I am still very worried about her. She does not seem to have digestive issues perse, but is on prevacid for heartburn, and does c/o stomach pain frequently. However, she is very very small for her age. (her brother who is 2.5 years younger than her, age 5 is now an inch taller)... she is 110cm and 40 pounds. Age 8! I am very interested to know if you can tell me more about the HLA.. is it a protein? gene? other? How do you think the HLA thing interplays with the severe asthma and JRA diagnosis and the CF one mutant gene? Thank you!!!
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 <img src="i/expressions/face-icon-small-sad.gif" border="0">
@ Debbie - funny I have the same experience, my husband is the one with the DF508 mutation and his family will ignore you if you as soon as you mention the word CF. They can get tested (it's free here), but are not interested either.
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 <img src="i/expressions/face-icon-small-sad.gif" border="0">
@ Debbie - funny I have the same experience, my husband is the one with the DF508 mutation and his family will ignore you if you as soon as you mention the word CF. They can get tested (it's free here), but are not interested either.
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 <img src="i/expressions/face-icon-small-sad.gif" border="0">
@ Debbie - funny I have the same experience, my husband is the one with the DF508 mutation and his family will ignore you if you as soon as you mention the word CF. They can get tested (it's free here), but are not interested either.
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 <img src="i/expressions/face-icon-small-sad.gif" border="0">
@ Debbie - funny I have the same experience, my husband is the one with the DF508 mutation and his family will ignore you if you as soon as you mention the word CF. They can get tested (it's free here), but are not interested either.
My son has a single mutation as well.He is doing well, and sometimes symptoms disappear. He does need his pancreatic ensymes though. He gets low fevers from time to time, which means he needs to add more salt to his food. He has some extra phlem from time to time, but has never had a problem with weight gain. You probably wouldnt be able to tell just by looking at him.
Now being a carrier myself, I do have symptoms as well. But they come and go. I have been sweat tested which revealed that I do not have CF. But I carry the mutated 508-1 gene. Symptoms of mine include Sweat spoutsthat resemble hot flashes, a very high salty sweat content from time to time. Digestive issues, that have resulted in GI and Bowel issues, sparatically. Heartburn that comes and goes, the round Belly (like a starving child from a third world country), unexplainableSparatic breathing issues like I have asthma. And a high amount of phlem in my throat into my lungs. I have noticed that I need to have a diet that has salt on most foods to help. I also loose weight when I add salt to all my foods. Alot of my symptoms disappear with salt. When I have low grade fevers, salt helps. I havent been really able to understand it until recently. I have been reading up on simular issues latley. It is somewhat common.
Now being a carrier myself, I do have symptoms as well. But they come and go. I have been sweat tested which revealed that I do not have CF. But I carry the mutated 508-1 gene. Symptoms of mine include Sweat spoutsthat resemble hot flashes, a very high salty sweat content from time to time. Digestive issues, that have resulted in GI and Bowel issues, sparatically. Heartburn that comes and goes, the round Belly (like a starving child from a third world country), unexplainableSparatic breathing issues like I have asthma. And a high amount of phlem in my throat into my lungs. I have noticed that I need to have a diet that has salt on most foods to help. I also loose weight when I add salt to all my foods. Alot of my symptoms disappear with salt. When I have low grade fevers, salt helps. I havent been really able to understand it until recently. I have been reading up on simular issues latley. It is somewhat common.
My son has a single mutation as well.He is doing well, and sometimes symptoms disappear. He does need his pancreatic ensymes though. He gets low fevers from time to time, which means he needs to add more salt to his food. He has some extra phlem from time to time, but has never had a problem with weight gain. You probably wouldnt be able to tell just by looking at him.
Now being a carrier myself, I do have symptoms as well. But they come and go. I have been sweat tested which revealed that I do not have CF. But I carry the mutated 508-1 gene. Symptoms of mine include Sweat spoutsthat resemble hot flashes, a very high salty sweat content from time to time. Digestive issues, that have resulted in GI and Bowel issues, sparatically. Heartburn that comes and goes, the round Belly (like a starving child from a third world country), unexplainableSparatic breathing issues like I have asthma. And a high amount of phlem in my throat into my lungs. I have noticed that I need to have a diet that has salt on most foods to help. I also loose weight when I add salt to all my foods. Alot of my symptoms disappear with salt. When I have low grade fevers, salt helps. I havent been really able to understand it until recently. I have been reading up on simular issues latley. It is somewhat common.
Now being a carrier myself, I do have symptoms as well. But they come and go. I have been sweat tested which revealed that I do not have CF. But I carry the mutated 508-1 gene. Symptoms of mine include Sweat spoutsthat resemble hot flashes, a very high salty sweat content from time to time. Digestive issues, that have resulted in GI and Bowel issues, sparatically. Heartburn that comes and goes, the round Belly (like a starving child from a third world country), unexplainableSparatic breathing issues like I have asthma. And a high amount of phlem in my throat into my lungs. I have noticed that I need to have a diet that has salt on most foods to help. I also loose weight when I add salt to all my foods. Alot of my symptoms disappear with salt. When I have low grade fevers, salt helps. I havent been really able to understand it until recently. I have been reading up on simular issues latley. It is somewhat common.
Just a thought. Try a Kidney doctor/specialist. My husband had other issues, nonCF related,and the Nephrologist (Kidney Doctor) was dealing with findings on protiens, and certain vitamin deficiencies. We had to hit a few up before we found any pertinent answers. He is doing better since his recent discovery (tumor on his adrenal gland), but still no where near 100%. He had several surgeries before we were able to figure out the cause. Still better than we were before. We have been directed to go to the Mayo Clinic in Minnesota, or a teaching Hospital like Northwestern, Illinois in Chicago. Northwestern is where we are starting, they have been taking everystep to help out.
I hope this helps.
I hope this helps.
Just a thought. Try a Kidney doctor/specialist. My husband had other issues, nonCF related,and the Nephrologist (Kidney Doctor) was dealing with findings on protiens, and certain vitamin deficiencies. We had to hit a few up before we found any pertinent answers. He is doing better since his recent discovery (tumor on his adrenal gland), but still no where near 100%. He had several surgeries before we were able to figure out the cause. Still better than we were before. We have been directed to go to the Mayo Clinic in Minnesota, or a teaching Hospital like Northwestern, Illinois in Chicago. Northwestern is where we are starting, they have been taking everystep to help out.
I hope this helps.
I hope this helps.
W
witzersmom
Guest
Oh my god THANK YOU for posting this. I am a carrier, and have always known I was different. BAD sinus problems, Masses of mucous in my sinus cavities, gall bladder removal. and irritable bowel syndrome.
I don't need to wait for the professionals to prove it.
I don't need to wait for the professionals to prove it.
W
witzersmom
Guest
Oh my god THANK YOU for posting this. I am a carrier, and have always known I was different. BAD sinus problems, Masses of mucous in my sinus cavities, gall bladder removal. and irritable bowel syndrome.
I don't need to wait for the professionals to prove it.
I don't need to wait for the professionals to prove it.
My kids each have 1 mutation - s1235r. They both have a lot of pancreatic stuff going on, as well as some respitory issues. DS tends to get pnuemonia a few times a year, and DD has a lot of sinus issues. Right now they are labled as CRMS, and we see pulm every 4 months. He feels that they are just carriers. I don't agree, am tired of fighting with them.