What's your opinion on this thought

W

worriedgrandma

Guest
My 7 month old granddaughter was diagnosed at 2 weeks with a "rare" mutation that her CF Dr said she has never seen before, meanwhile I have heard of at least 2 other children on here with this same combination. Her Dr said that other than the fact that she has these 2 CF genes, they would never know that she has this disease and if it weren't for the newborn screening, we possibly might never have known. Her CF Dr also said that recently she has had quite a few "rare" mutations come up that she has never seen before. I was thinking that with the newborn screening, alot of "rare" mutations are being picked up that maybe possibly were out there alot more that we know about but just not being picked up before newborn screening because some of them present with either no symptoms or symptoms mild enough to have never been of concern. I can't imagine that all of a sudden these new mutations are appearing. I wonder if possibly there is alot more people out there with rare mutations that don't even know it because they don't have any problems. What do you think?
For example, my 26 year old daughter (not the babies mother) sweats out alot of salt when she jogs. You can actually see the salt crystals on her face and if you touch her face it feels like running your hand over sandpaper from all the salt. I don't THINK this is normal but she won't go get tested.
 
W

worriedgrandma

Guest
My 7 month old granddaughter was diagnosed at 2 weeks with a "rare" mutation that her CF Dr said she has never seen before, meanwhile I have heard of at least 2 other children on here with this same combination. Her Dr said that other than the fact that she has these 2 CF genes, they would never know that she has this disease and if it weren't for the newborn screening, we possibly might never have known. Her CF Dr also said that recently she has had quite a few "rare" mutations come up that she has never seen before. I was thinking that with the newborn screening, alot of "rare" mutations are being picked up that maybe possibly were out there alot more that we know about but just not being picked up before newborn screening because some of them present with either no symptoms or symptoms mild enough to have never been of concern. I can't imagine that all of a sudden these new mutations are appearing. I wonder if possibly there is alot more people out there with rare mutations that don't even know it because they don't have any problems. What do you think?
For example, my 26 year old daughter (not the babies mother) sweats out alot of salt when she jogs. You can actually see the salt crystals on her face and if you touch her face it feels like running your hand over sandpaper from all the salt. I don't THINK this is normal but she won't go get tested.
 
W

worriedgrandma

Guest
My 7 month old granddaughter was diagnosed at 2 weeks with a "rare" mutation that her CF Dr said she has never seen before, meanwhile I have heard of at least 2 other children on here with this same combination. Her Dr said that other than the fact that she has these 2 CF genes, they would never know that she has this disease and if it weren't for the newborn screening, we possibly might never have known. Her CF Dr also said that recently she has had quite a few "rare" mutations come up that she has never seen before. I was thinking that with the newborn screening, alot of "rare" mutations are being picked up that maybe possibly were out there alot more that we know about but just not being picked up before newborn screening because some of them present with either no symptoms or symptoms mild enough to have never been of concern. I can't imagine that all of a sudden these new mutations are appearing. I wonder if possibly there is alot more people out there with rare mutations that don't even know it because they don't have any problems. What do you think?
<br />For example, my 26 year old daughter (not the babies mother) sweats out alot of salt when she jogs. You can actually see the salt crystals on her face and if you touch her face it feels like running your hand over sandpaper from all the salt. I don't THINK this is normal but she won't go get tested.
 
M

Mommafirst

Guest
I do think that with newborn screening we are identifying people who may have been missed for Cf diagnosis for years. As evidence is the number of 25, 35, and 45+ year olds that have been diagnosed around here.

BUT I think it can be dangerous to assume that just because your child/grandchild has a "rare" mutation and just because there are people who didn't get identified for CF until later in life that this means for sure your CF patient won't exhibit symptoms for 20,30,+ years and that you don't have to worry about preventative care. My daughter has one mutation that Ambry Genetics claims has only been identified in 5 other people. I'd think that is pretty rare. Looking at the symptoms of these 5, made our docs think that it would be a less severe mutation. I was BOWLED over when my daughter was hospitalized for CF stuff at 1 year of age, because it wasn't supposed to be the case for her. Now at 5 she has 5 hospitalizations and a feeding tube under her belt. She might not be the most severe almost 5 year old CF patient I know about, but she certainly isn't the least either.

As for your daughter, is it possible she has CF and its been missed? Sure its possible. But I wouldn't take the salt thing as the only indicator possible. However, if she has had recurrent lung infections and/or digestive issues, I'd definitely push testing.
 
M

Mommafirst

Guest
I do think that with newborn screening we are identifying people who may have been missed for Cf diagnosis for years. As evidence is the number of 25, 35, and 45+ year olds that have been diagnosed around here.

BUT I think it can be dangerous to assume that just because your child/grandchild has a "rare" mutation and just because there are people who didn't get identified for CF until later in life that this means for sure your CF patient won't exhibit symptoms for 20,30,+ years and that you don't have to worry about preventative care. My daughter has one mutation that Ambry Genetics claims has only been identified in 5 other people. I'd think that is pretty rare. Looking at the symptoms of these 5, made our docs think that it would be a less severe mutation. I was BOWLED over when my daughter was hospitalized for CF stuff at 1 year of age, because it wasn't supposed to be the case for her. Now at 5 she has 5 hospitalizations and a feeding tube under her belt. She might not be the most severe almost 5 year old CF patient I know about, but she certainly isn't the least either.

As for your daughter, is it possible she has CF and its been missed? Sure its possible. But I wouldn't take the salt thing as the only indicator possible. However, if she has had recurrent lung infections and/or digestive issues, I'd definitely push testing.
 
M

Mommafirst

Guest
I do think that with newborn screening we are identifying people who may have been missed for Cf diagnosis for years. As evidence is the number of 25, 35, and 45+ year olds that have been diagnosed around here.
<br />
<br />BUT I think it can be dangerous to assume that just because your child/grandchild has a "rare" mutation and just because there are people who didn't get identified for CF until later in life that this means for sure your CF patient won't exhibit symptoms for 20,30,+ years and that you don't have to worry about preventative care. My daughter has one mutation that Ambry Genetics claims has only been identified in 5 other people. I'd think that is pretty rare. Looking at the symptoms of these 5, made our docs think that it would be a less severe mutation. I was BOWLED over when my daughter was hospitalized for CF stuff at 1 year of age, because it wasn't supposed to be the case for her. Now at 5 she has 5 hospitalizations and a feeding tube under her belt. She might not be the most severe almost 5 year old CF patient I know about, but she certainly isn't the least either.
<br />
<br />As for your daughter, is it possible she has CF and its been missed? Sure its possible. But I wouldn't take the salt thing as the only indicator possible. However, if she has had recurrent lung infections and/or digestive issues, I'd definitely push testing.
 
W

worriedgrandma

Guest
I might have worded my question wrong. They are doing preventative care as in a nebulizer 2 times a day and chest therapy. Also keep checking stool samples even though she is in the 75th percentile for her weight and height. Just glad that they find these things early now as to start treatments before problems ever begin.
 
W

worriedgrandma

Guest
I might have worded my question wrong. They are doing preventative care as in a nebulizer 2 times a day and chest therapy. Also keep checking stool samples even though she is in the 75th percentile for her weight and height. Just glad that they find these things early now as to start treatments before problems ever begin.
 
W

worriedgrandma

Guest
I might have worded my question wrong. They are doing preventative care as in a nebulizer 2 times a day and chest therapy. Also keep checking stool samples even though she is in the 75th percentile for her weight and height. Just glad that they find these things early now as to start treatments before problems ever begin.
 
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