what r the chances

[jdemay1]

so im from michigan.. i had my daughter on 5/6/11 and her nbs came back abnormal for cf.. they do an irt/dna test here.
her irt levels were 85 w/ heterozygous dna mutation of r117h/5t/7t.. we go for a sweat test next week.
her birth weight was 8 lbs 5 oz and her weight as of yesterday is 7 lbs 15 oz.. almost 2 weeks later..
what r the chances she has cf.. im worried and very scared for her health.. any supprt would be appreciated

 

[jdemay1]

so im from michigan.. i had my daughter on 5/6/11 and her nbs came back abnormal for cf.. they do an irt/dna test here.
her irt levels were 85 w/ heterozygous dna mutation of r117h/5t/7t.. we go for a sweat test next week.
her birth weight was 8 lbs 5 oz and her weight as of yesterday is 7 lbs 15 oz.. almost 2 weeks later..
what r the chances she has cf.. im worried and very scared for her health.. any supprt would be appreciated

 

[jdemay1]

<p>so im from michigan.. i had my daughter on 5/6/11 and her nbs came back abnormal for cf.. they do an irt/dna test here.
<p>her irt levels were 85 w/ heterozygous dna mutation of r117h/5t/7t.. we go for a sweat test next week.
<p>her birth weight was 8 lbs 5 oz and her weight as of yesterday is 7 lbs 15 oz.. almost 2 weeks later..
<p>what r the chances she has cf.. im worried and very scared for her health.. any supprt would be appreciated

 

[just1more]

Ok, first of all take a deep breath, you will get through this. I know you are feeling overwhelmed but you have to take it a day at a time right now. You will find a great group of people here so feel free to ask any questions you have.

As for the results, an irt of 85 is borderline for a 1st test, but positive over 7 days old. However, I'm concerned about the dna results. The term 'heterozygous' implies 2 different mutations; and is a conclusive diagnosis of CF. However, you only show one mutation (r117h) which would possibly be only a carrier.

Are you being seen at an accredited CF center (cff.org maintains the list)? If not I would definitely try to get into one as they will be in a position to help you know for sure. In addition, a sweat test that is not done at one is not very useful as they are hard to do & interpret (and rarely done so young....).

Ultimately, know that no matter what they say this is not the end of the road; just a different path that you might have planned. But one that can be walked hand-in-hand with those that are walking the same path and together we all will make it.

 

[just1more]

Ok, first of all take a deep breath, you will get through this. I know you are feeling overwhelmed but you have to take it a day at a time right now. You will find a great group of people here so feel free to ask any questions you have.

As for the results, an irt of 85 is borderline for a 1st test, but positive over 7 days old. However, I'm concerned about the dna results. The term 'heterozygous' implies 2 different mutations; and is a conclusive diagnosis of CF. However, you only show one mutation (r117h) which would possibly be only a carrier.

Are you being seen at an accredited CF center (cff.org maintains the list)? If not I would definitely try to get into one as they will be in a position to help you know for sure. In addition, a sweat test that is not done at one is not very useful as they are hard to do & interpret (and rarely done so young....).

Ultimately, know that no matter what they say this is not the end of the road; just a different path that you might have planned. But one that can be walked hand-in-hand with those that are walking the same path and together we all will make it.

 

[just1more]

Ok, first of all take a deep breath, you will get through this. I know you are feeling overwhelmed but you have to take it a day at a time right now. You will find a great group of people here so feel free to ask any questions you have.
<br />
<br />As for the results, an irt of 85 is borderline for a 1st test, but positive over 7 days old. However, I'm concerned about the dna results. The term 'heterozygous' implies 2 different mutations; and is a conclusive diagnosis of CF. However, you only show one mutation (r117h) which would possibly be only a carrier.
<br />
<br />Are you being seen at an accredited CF center (cff.org maintains the list)? If not I would definitely try to get into one as they will be in a position to help you know for sure. In addition, a sweat test that is not done at one is not very useful as they are hard to do & interpret (and rarely done so young....).
<br />
<br />Ultimately, know that no matter what they say this is not the end of the road; just a different path that you might have planned. But one that can be walked hand-in-hand with those that are walking the same path and together we all will make it.

 

[Jessesmom]

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!
Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.
Jo

 

[Jessesmom]

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!
Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.
Jo

 

[Jessesmom]

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!
<br />Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.
<br />Jo

 

[just1more]

Jo, my son w/CF is adopted (at 6) so his siblings are not impacted. However, while I would probably recommend testing the others at some point.....it would make sense to wait for your son's results first. The reason being, then you only have to test for 2 mutations (DF508 & possibly a 2nd). It will be quicker & cheaper that way.

 

[just1more]

Jo, my son w/CF is adopted (at 6) so his siblings are not impacted. However, while I would probably recommend testing the others at some point.....it would make sense to wait for your son's results first. The reason being, then you only have to test for 2 mutations (DF508 & possibly a 2nd). It will be quicker & cheaper that way.

 

[just1more]

Jo, my son w/CF is adopted (at 6) so his siblings are not impacted. However, while I would probably recommend testing the others at some point.....it would make sense to wait for your son's results first. The reason being, then you only have to test for 2 mutations (DF508 & possibly a 2nd). It will be quicker & cheaper that way.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jessesmom</b></i>

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!

Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.

Jo</end quote></div>

<div><br></div><div>Yes your other children should be genetically tested at the least. We had a member about 2 years ago who had a child diagnosed only to find out 4 of her 6 or 7 kids have cf! All with different severities and symptoms too! Better to know.</div>

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jessesmom</b></i>

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!

Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.

Jo</end quote>

<br>Yes your other children should be genetically tested at the least. We had a member about 2 years ago who had a child diagnosed only to find out 4 of her 6 or 7 kids have cf! All with different severities and symptoms too! Better to know.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jessesmom</b></i>

I'm going through the same. My son was born on April 21, and had a positive nbs as well. IRT of 79.2 and one detected mutation (DF508). From what I understood the NBS only test for the most common mutations (here in Canada anyway). My son has his sweat test scheduled for this Wednesday. I'm thinking of you, please keep us updated!

Tom, are any of your other kids carriers? This is our fifth baby, so I'm wondering if they should be tested as well.

Jo</end quote>

<br>Yes your other children should be genetically tested at the least. We had a member about 2 years ago who had a child diagnosed only to find out 4 of her 6 or 7 kids have cf! All with different severities and symptoms too! Better to know.

 

[morriss]

I was in your shoes last year. My son was born April 15th 2010 and had a similar diagnosis DF508 and 5t variant. Most on this forum have not heard of that combination because 5t or 7t variant are not CF mutations, but when paired with a CF mutation may result in symptoms of CF. My son is now 18 months and and continues to gain weight and is staying healthy. He is not taking enzymes or antibiotics. As you probably are aware the "type" of CF our children have is asymptomatic. (They may show signs or not) From what I have read if it shows itself it is usually the lungs. However in males it can cause fertility issues. We continue to go to a CF clinic (Indiana) but after October we may only due checks-ups every year as they are not seeing anything that would warrant treatment. We also have a great pediatrician that keeps in contact with our CF doctor. Thinking of you.

 

[morriss]

I was in your shoes last year. My son was born April 15th 2010 and had a similar diagnosis DF508 and 5t variant. Most on this forum have not heard of that combination because 5t or 7t variant are not CF mutations, but when paired with a CF mutation may result in symptoms of CF. My son is now 18 months and and continues to gain weight and is staying healthy. He is not taking enzymes or antibiotics. As you probably are aware the "type" of CF our children have is asymptomatic. (They may show signs or not) From what I have read if it shows itself it is usually the lungs. However in males it can cause fertility issues. We continue to go to a CF clinic (Indiana) but after October we may only due checks-ups every year as they are not seeing anything that would warrant treatment. We also have a great pediatrician that keeps in contact with our CF doctor. Thinking of you.

 

[morriss]

I was in your shoes last year. My son was born April 15th 2010 and had a similar diagnosis DF508 and 5t variant. Most on this forum have not heard of that combination because 5t or 7t variant are not CF mutations, but when paired with a CF mutation may result in symptoms of CF. My son is now 18 months and and continues to gain weight and is staying healthy. He is not taking enzymes or antibiotics. As you probably are aware the "type" of CF our children have is asymptomatic. (They may show signs or not) From what I have read if it shows itself it is usually the lungs. However in males it can cause fertility issues. We continue to go to a CF clinic (Indiana) but after October we may only due checks-ups every year as they are not seeing anything that would warrant treatment. We also have a great pediatrician that keeps in contact with our CF doctor. Thinking of you.