damiensmom
New member
I found my sons mutation info on pub med. enter mutation then the seuence / cystic fibrosis. Maybe youll get info like I did I also found out what part of the world it is prevelant.
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Daughter newly diagnosed
- Thread starter mbarloewen
- Start date
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Emily65Roses</b></i>
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).
One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).
As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.
There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.
<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels
Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function
Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface
Class IV: CFTR reaches the apical surface but conduction through the channel is defective
Class V: Associated with reduced synthesis of functional CFTR</i>
(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )
Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).
As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.
I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.
Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).
This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0"></end quote></div>
Dear Emily,
Thank you very much for your detailed response. I am very appreciative of the information contained in your post.
I realized that I mis typed the mutation my daugther has, it is in fact 182 deletion T as opposed to 186 deletion T.
i was able to get some information from Steven Kreilles on the Abry thread in the families section of this website.
Thanks for the updated link to the Sick Kids database as I was unable to get on it earlier and now will spend some time going through it.
I am happy to hear how well you are doing with the disease (with a class I and a class II mutation no less!) I find it very encouraging for the prospects for my daughter.
Best wishes to you,
Mike
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Salena</b></i>
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Salena</b></i>
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike
mbarloewen
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Salena</b></i>
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike
Hi Mike,
My daughter also was born w/ the bowel blockage and had to have a colostomy for the first five months, she also has a doulbe deltaF508 mutuation. She is doing very good mild respiratory symptoms, has the digestive and the liver part of it. Her weight and height are great. Your right there is tons of info on the F508 and don't take everything to heart everyone is different and has different symptoms.
Good luck.</end quote></div>
Hi Selena,
We were at one point very close to going to the colostomy with Abby but she was finally able to pass the last of her merconium that had been plugging things up.
Thanks for the insight. I'm just preparing myself to indentify whatever symptoms she gets as quickly as possible so she can get whatever available treatments there are right away.
Day by day, that's how we'll be living our life from now on.
Mike