Suspected CF-looking for information

[hmw]

I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!
<br />
<br />You will be in AMAZING hands going to U of Minnesota. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[fallenarches]

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

I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!



You will be in <b>AMAZING hands going to U of Minnesota</b>. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src=""></end quote></div>

<div><br></div><div>Well that is REALLY good to know, THANKS!!</div>

 

[fallenarches]

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

I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!



You will be in <b>AMAZING hands going to U of Minnesota</b>. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src=""></end quote>

<br>Well that is REALLY good to know, THANKS!!

 

[fallenarches]

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

I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!



You will be in <b>AMAZING hands going to U of Minnesota</b>. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src=""></end quote>

<br>Well that is REALLY good to know, THANKS!!

 

[fallenarches]

We got DD's lab reports back from our primary dr. Everything was "normal" except that she had some protein in her urine and mucus in her urine....

The protein doesn't bother me much as that isn't "unusual" in an active person. They are retesting next week and want a first morning sample.

The mucus concerns me since we are looking at CF. Is this something others have experienced as well?

 

[fallenarches]

We got DD's lab reports back from our primary dr. Everything was "normal" except that she had some protein in her urine and mucus in her urine....

The protein doesn't bother me much as that isn't "unusual" in an active person. They are retesting next week and want a first morning sample.

The mucus concerns me since we are looking at CF. Is this something others have experienced as well?

 

[fallenarches]

We got DD's lab reports back from our primary dr. Everything was "normal" except that she had some protein in her urine and mucus in her urine....
<br />
<br />The protein doesn't bother me much as that isn't "unusual" in an active person. They are retesting next week and want a first morning sample.
<br />
<br />The mucus concerns me since we are looking at CF. Is this something others have experienced as well?

 

[hmw]

I am thinking it may not have been a 'clean catch'. Mucus is not a typical finding in urine, but is a completely normal secretion otherwise in that general area and may have gotten into the cup accidentally. It's good to test again to be sure for both things though.

 

[hmw]

I am thinking it may not have been a 'clean catch'. Mucus is not a typical finding in urine, but is a completely normal secretion otherwise in that general area and may have gotten into the cup accidentally. It's good to test again to be sure for both things though.

 

[hmw]

I am thinking it may not have been a 'clean catch'. Mucus is not a typical finding in urine, but is a completely normal secretion otherwise in that general area and may have gotten into the cup accidentally. It's good to test again to be sure for both things though.

 

[Ratatosk]

Basic fact of the matter is that there is something wrong with your child and you need to push for answers -- cf or not. DS had a normal sweat test -- 32. Mostly digestive issues, though did culture some typical CF bugs despite having no symptoms.

Have they done a sputum culture for cf bugs? If not, might be a good idea to request that.

I have several friends who go to U of MN and are very pleased with the clinic!

 

[Ratatosk]

Basic fact of the matter is that there is something wrong with your child and you need to push for answers -- cf or not. DS had a normal sweat test -- 32. Mostly digestive issues, though did culture some typical CF bugs despite having no symptoms.

Have they done a sputum culture for cf bugs? If not, might be a good idea to request that.

I have several friends who go to U of MN and are very pleased with the clinic!

 

[Ratatosk]

Basic fact of the matter is that there is something wrong with your child and you need to push for answers -- cf or not. DS had a normal sweat test -- 32. Mostly digestive issues, though did culture some typical CF bugs despite having no symptoms.
<br />
<br />Have they done a sputum culture for cf bugs? If not, might be a good idea to request that.
<br />
<br />I have several friends who go to U of MN and are very pleased with the clinic!

 

[khavice]

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.

Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)

After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.

As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.

 

[khavice]

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.

Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)

After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.

As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.

 

[khavice]

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.
<br />
<br />Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)
<br />
<br />After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.
<br />
<br />As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.
<br />

 

[fallenarches]

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

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.



Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)



After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.



As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.</end quote></div>

<div><br></div><div>Part of that is our schedule too.  We couldn't go this week because they didn't have appointments yesterday or today and DD has unchangeable plans the rest of the week, PSAT test tomorrow, out of town for Marching Band the rest of the week.  Next week, they were booked-statewide teacher convention would be my guess-people getting in annual appointments, etc. with no school.  That leads us to the following week.  I would guess if she were having some acute symptoms, bronchitis or whatever, we would have been more persistent and tried to get in earlier.</div><div><br></div><div>Also, not that I am an expert or anything by any means but I am going to guess her sweat test is going to come back normal to borderline--maybe that is a wrong assumption but thinking that we made it this long and never noticed anything.  I am hedging that we won't know anything definitive until the DNA tests come back.</div>

 

[fallenarches]

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

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.



Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)



After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.



As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.</end quote>

<br>Part of that is our schedule too. We couldn't go this week because they didn't have appointments yesterday or today and DD has unchangeable plans the rest of the week, PSAT test tomorrow, out of town for Marching Band the rest of the week. Next week, they were booked-statewide teacher convention would be my guess-people getting in annual appointments, etc. with no school. That leads us to the following week. I would guess if she were having some acute symptoms, bronchitis or whatever, we would have been more persistent and tried to get in earlier.<br>Also, not that I am an expert or anything by any means but I am going to guess her sweat test is going to come back normal to borderline--maybe that is a wrong assumption but thinking that we made it this long and never noticed anything. I am hedging that we won't know anything definitive until the DNA tests come back.

 

[fallenarches]

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

My question is why do you have to wait until the 25th for the sweat test? Even if they can't get her into the clinic until then, you should be able to have the test before then. At least that would give you a tentative answer. I know that a sweat test is not 100% conclusive. But I also think that the sooner you start the process the better you, as a mother, will feel. Knowledge is power.



Our diagnosis went like this... We met with a ped gastro doc on a Fri about symptoms when my daughter was 5, he wanted to "rule out" CF. Following Wed, had 1st sweat test, came back positive same day. Referred to CF clinic same day and they got us in the very next day to meet w/ all staff. (Be aware that they should have you meet w/ doc, social worker, nutritionist & resp. therapist. That threw me for a loop.)



After meeting w/ doc on Thurs she was admitted to hospital Friday for IV antibiotics, bronchoscopy and other tests. Thought she would be in for at least a week. She was only in for 5 days but we were able to get a crash course on CF and got all her medications & treatments worked out.



As hard as it was to deal with the diagnosis, I was happy to have an answer. My suggestion... push for an earlier sweat test.</end quote>

<br>Part of that is our schedule too. We couldn't go this week because they didn't have appointments yesterday or today and DD has unchangeable plans the rest of the week, PSAT test tomorrow, out of town for Marching Band the rest of the week. Next week, they were booked-statewide teacher convention would be my guess-people getting in annual appointments, etc. with no school. That leads us to the following week. I would guess if she were having some acute symptoms, bronchitis or whatever, we would have been more persistent and tried to get in earlier.<br>Also, not that I am an expert or anything by any means but I am going to guess her sweat test is going to come back normal to borderline--maybe that is a wrong assumption but thinking that we made it this long and never noticed anything. I am hedging that we won't know anything definitive until the DNA tests come back.

 

[Printer]

DD is 16 and doing very well. 2 weeks to go to the CF Clinic won't hurt anyone. Fallen, relax, yiu are doing fine.

Bill