FKEWATSON - has your son been seen at a CF center or was the diagnosis of Carrier done by the GI doc? The reason I'm asking is that there are people that are diagnosied with CF with only 1 mutation and a single organ involvement. The only one who should give you a diagnosis or non-diagnosis of CF is the CF clinic docs, so I wanted to make sure you had seen them. <img src="i/expressions/face-icon-small-happy.gif" border="0">
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Anyone with single mutation w/CF symptoms?
- Thread starter fkewatson
- Start date
FKEWATSON - has your son been seen at a CF center or was the diagnosis of Carrier done by the GI doc? The reason I'm asking is that there are people that are diagnosied with CF with only 1 mutation and a single organ involvement. The only one who should give you a diagnosis or non-diagnosis of CF is the CF clinic docs, so I wanted to make sure you had seen them. <img src="i/expressions/face-icon-small-happy.gif" border="0">
FKEWATSON - has your son been seen at a CF center or was the diagnosis of Carrier done by the GI doc? The reason I'm asking is that there are people that are diagnosied with CF with only 1 mutation and a single organ involvement. The only one who should give you a diagnosis or non-diagnosis of CF is the CF clinic docs, so I wanted to make sure you had seen them. <img src="i/expressions/face-icon-small-happy.gif" border="0">
FKEWATSON - has your son been seen at a CF center or was the diagnosis of Carrier done by the GI doc? The reason I'm asking is that there are people that are diagnosied with CF with only 1 mutation and a single organ involvement. The only one who should give you a diagnosis or non-diagnosis of CF is the CF clinic docs, so I wanted to make sure you had seen them. <img src="i/expressions/face-icon-small-happy.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
YES DEFINITELY!!! i do not care what they say!!! my ex husband and I BOTH carry the DF508 and we BOTH have had intestinal issues and I have asthma and sinus troubles. Also my sister is a carrier and has always had bowel and sinus troubles as well. And my daughter who has cf , her daughter has severe bowel issues. Think about it, even if you are a carrier, one half is not working right!
peace.
lisa <img src="i/expressions/rose.gif" border="0">
peace.
lisa <img src="i/expressions/rose.gif" border="0">
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
No, we have not been to a CF center. It was the GI doctor who ordered the CF Gene test. I never dreamed that being a carrier could mean anything other than consideration for future family planning, but he said no, that he has 15-20 other patients who have only one mutation with malabsorption issues.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.
His malabsorption symptoms are really rather mild except when you take into account his Vitamin E deficiency symptoms. They are severe. I've posted on another thread that we were on the enzymes for 2 weeks and his Vit E deficiency symptoms returned with a vengeance. One would think that he would have improved given that the enzymes should have allowed for better Vit E absorption. But he worsened to the point where last Sat I took him off the enzymes and within about 5 hours he improved back to the point where we had been before the enzymes. I think he has a double whammy - a heterozygous CF gene causing malabsorption issues AND a hetero or homozygous mutation of the gene that allows production of the alpha tocopherol transfer protein (aTTP). I went to his pediatrician last week for the sole purpose of getting an order to have the aTTP gene testing performed. I'll have his blood drawn Monday.
I began another thread today asking how much Vit E people with CF need to take to ward off deficiency. I had read that for CF you need 100-200IUs per day for a child my son's size (40lbs or 18 kg). The reason that I think something else is going on with him is that in order for him to have "sensory normalcy" as I call it, I have to give him 2400IUs d-alpha and 1200mg d-gamma tocopherol per day. That is many orders of magnitude greater than the literature indicates is needed for CF malabsorption issues...but is within the range needed for people who lack the alpha tocopherol tranfer protein. If it turns out I'm right, chalk one up for Dr. Mom, because I have had to figure all of this out on my own.