G576A mutation found

K

kaylinsmom

Member
Well, we went to musc childrens this week and I found out Kaylins gene is G576A. The test that mayo did was the full panel and they search for over 1500 mutations! I was relieved to hear that. The doc said there could still be one that is not identified though but he feels that if we can get her reflux under control, it will help her asthma. So, we switched from prevacid to nexium and upped her miralax dosage. Because she is still having digestion problems. She had gained a pound since July, so that was good. I showed the pulmo a nodule on the back of her neck that has been there for years and now it is causing Kaylin discomfort and he wants it removed asap. My grandfather died from hodgkins lymphoma. All of her peds have never been concerned about it though. If its not one thing its another! Kaylins pfts were the best they have ever been, 104! But last night we had to do her rescue inhalers, after not having to do them since April, when her lung collapsed. Does anyone know anything about the mutation G576A? Thanks, Erin
 
K

kaylinsmom

Member
Well, we went to musc childrens this week and I found out Kaylins gene is G576A. The test that mayo did was the full panel and they search for over 1500 mutations! I was relieved to hear that. The doc said there could still be one that is not identified though but he feels that if we can get her reflux under control, it will help her asthma. So, we switched from prevacid to nexium and upped her miralax dosage. Because she is still having digestion problems. She had gained a pound since July, so that was good. I showed the pulmo a nodule on the back of her neck that has been there for years and now it is causing Kaylin discomfort and he wants it removed asap. My grandfather died from hodgkins lymphoma. All of her peds have never been concerned about it though. If its not one thing its another! Kaylins pfts were the best they have ever been, 104! But last night we had to do her rescue inhalers, after not having to do them since April, when her lung collapsed. Does anyone know anything about the mutation G576A? Thanks, Erin
 
K

kaylinsmom

Member
Well, we went to musc childrens this week and I found out Kaylins gene is G576A. The test that mayo did was the full panel and they search for over 1500 mutations! I was relieved to hear that. The doc said there could still be one that is not identified though but he feels that if we can get her reflux under control, it will help her asthma. So, we switched from prevacid to nexium and upped her miralax dosage. Because she is still having digestion problems. She had gained a pound since July, so that was good. I showed the pulmo a nodule on the back of her neck that has been there for years and now it is causing Kaylin discomfort and he wants it removed asap. My grandfather died from hodgkins lymphoma. All of her peds have never been concerned about it though. If its not one thing its another! Kaylins pfts were the best they have ever been, 104! But last night we had to do her rescue inhalers, after not having to do them since April, when her lung collapsed. Does anyone know anything about the mutation G576A? Thanks, Erin
 
J

JennifersHope

New member
Oh how funny that I came across this post.I go to MUSC as well but I go to the adult clinic. I love and adore them, they have been working hard at getting me healthy

About a month and half ago they sent my blood off to Mayo clinic for full genetic testing. My sweat tests can not be counted as good even though all three of them were positive because I have addison's disease which can cause falst positives. So after 10 years of being treated as a CFer at my other clinc MUSC decided to look into my genes because I am at best an a-typical cfer with severe asthma

My mutations are DF508 and Q1330E.. I am convinced no one on God's planet knows what that second mutation means or is but they are looking, Did they find more then one mutation on your child?


I believe Mary Lester is the RT for the peds clinic too, She does the adults too and I adore and love her to pieces.

Hope you get answers.
 
J

JennifersHope

New member
Oh how funny that I came across this post.I go to MUSC as well but I go to the adult clinic. I love and adore them, they have been working hard at getting me healthy

About a month and half ago they sent my blood off to Mayo clinic for full genetic testing. My sweat tests can not be counted as good even though all three of them were positive because I have addison's disease which can cause falst positives. So after 10 years of being treated as a CFer at my other clinc MUSC decided to look into my genes because I am at best an a-typical cfer with severe asthma

My mutations are DF508 and Q1330E.. I am convinced no one on God's planet knows what that second mutation means or is but they are looking, Did they find more then one mutation on your child?


I believe Mary Lester is the RT for the peds clinic too, She does the adults too and I adore and love her to pieces.

Hope you get answers.
 
J

JennifersHope

New member
Oh how funny that I came across this post.I go to MUSC as well but I go to the adult clinic. I love and adore them, they have been working hard at getting me healthy
<br />
<br />About a month and half ago they sent my blood off to Mayo clinic for full genetic testing. My sweat tests can not be counted as good even though all three of them were positive because I have addison's disease which can cause falst positives. So after 10 years of being treated as a CFer at my other clinc MUSC decided to look into my genes because I am at best an a-typical cfer with severe asthma
<br />
<br />My mutations are DF508 and Q1330E.. I am convinced no one on God's planet knows what that second mutation means or is but they are looking, Did they find more then one mutation on your child?
<br />
<br />
<br />I believe Mary Lester is the RT for the peds clinic too, She does the adults too and I adore and love her to pieces.
<br />
<br />Hope you get answers.
<br />
 
K

kaylinsmom

Member
I love musc too! Dr. Bowman is exceptional. They did not find another mutation, so they are rulling cf out until we can get her reflux under control. We are currently around day 25 of diahrea and I have completely stopped the miralax. We cant get in to the gi doc until dec. 16th! I just want some answers as to why she stays sick! But I have full confidence that MUSC is on top of it. Good luck with you and thanks for responding. Erin
 
K

kaylinsmom

Member
I love musc too! Dr. Bowman is exceptional. They did not find another mutation, so they are rulling cf out until we can get her reflux under control. We are currently around day 25 of diahrea and I have completely stopped the miralax. We cant get in to the gi doc until dec. 16th! I just want some answers as to why she stays sick! But I have full confidence that MUSC is on top of it. Good luck with you and thanks for responding. Erin
 
K

kaylinsmom

Member
I love musc too! Dr. Bowman is exceptional. They did not find another mutation, so they are rulling cf out until we can get her reflux under control. We are currently around day 25 of diahrea and I have completely stopped the miralax. We cant get in to the gi doc until dec. 16th! I just want some answers as to why she stays sick! But I have full confidence that MUSC is on top of it. Good luck with you and thanks for responding. Erin
 
H

hmw

New member
Did they test her for pancreatic insufficiency? Given her digestive issues, esp combined with her history of respiratory issues & prolonged illness, it would be a good idea. That is something the CF center could do w/o waiting for the GI.
 
H

hmw

New member
Did they test her for pancreatic insufficiency? Given her digestive issues, esp combined with her history of respiratory issues & prolonged illness, it would be a good idea. That is something the CF center could do w/o waiting for the GI.
 
H

hmw

New member
Did they test her for pancreatic insufficiency? Given her digestive issues, esp combined with her history of respiratory issues & prolonged illness, it would be a good idea. That is something the CF center could do w/o waiting for the GI.
 
K

kaylinsmom

Member
I took in a stool sample back in May, when her poop was greasy and it went from brown to blue to green to teal colored specks. The test came back normal and it was done at musc childrens hospital. I took her to our regular ped today and they ordered 5 different test where I have to send in her stool in 4 different tubes. They are checking for fecal fat, c.diff, e-coli., o&p, and another one...can't remember. I don't know what is causing her to have watery stools like she is having. I have tried everything. No milk products, gluten free products, no sugar, nothing seems to help. I called the gi doc and told them and I am hoping to get in sooner. Erin
 
K

kaylinsmom

Member
I took in a stool sample back in May, when her poop was greasy and it went from brown to blue to green to teal colored specks. The test came back normal and it was done at musc childrens hospital. I took her to our regular ped today and they ordered 5 different test where I have to send in her stool in 4 different tubes. They are checking for fecal fat, c.diff, e-coli., o&p, and another one...can't remember. I don't know what is causing her to have watery stools like she is having. I have tried everything. No milk products, gluten free products, no sugar, nothing seems to help. I called the gi doc and told them and I am hoping to get in sooner. Erin
 
K

kaylinsmom

Member
I took in a stool sample back in May, when her poop was greasy and it went from brown to blue to green to teal colored specks. The test came back normal and it was done at musc childrens hospital. I took her to our regular ped today and they ordered 5 different test where I have to send in her stool in 4 different tubes. They are checking for fecal fat, c.diff, e-coli., o&p, and another one...can't remember. I don't know what is causing her to have watery stools like she is having. I have tried everything. No milk products, gluten free products, no sugar, nothing seems to help. I called the gi doc and told them and I am hoping to get in sooner. Erin
 
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