Confused...

[Carrie101]

Hi everyone! I'm a little confused with the diagnosis (or lack of) in my two sons. They both have had positive sweat tests, (76 and 89), and have the delta F508 mutation. The doctor only ran the test for the more common mutations, so they only found the one. He has ordered the full test, but told us it could be up to two months for the results to come in. Anyway, they are both pancreatic sufficient, and aren't presenting with too many other symptoms (just nasal polyps in the older one, and pretty much nothing in the younger one) The doc sent us home, and told us they would call us if they found a second mutation. Is it wise to just let it go? Any advice would be appreciated! Thanks!<img src="i/expressions/face-icon-small-smile.gif" border="0">
Carrie

 

[Carrie101]

Hi everyone! I'm a little confused with the diagnosis (or lack of) in my two sons. They both have had positive sweat tests, (76 and 89), and have the delta F508 mutation. The doctor only ran the test for the more common mutations, so they only found the one. He has ordered the full test, but told us it could be up to two months for the results to come in. Anyway, they are both pancreatic sufficient, and aren't presenting with too many other symptoms (just nasal polyps in the older one, and pretty much nothing in the younger one) The doc sent us home, and told us they would call us if they found a second mutation. Is it wise to just let it go? Any advice would be appreciated! Thanks!<img src="i/expressions/face-icon-small-smile.gif" border="0">
Carrie

 

[Carrie101]

Hi everyone! I'm a little confused with the diagnosis (or lack of) in my two sons. They both have had positive sweat tests, (76 and 89), and have the delta F508 mutation. The doctor only ran the test for the more common mutations, so they only found the one. He has ordered the full test, but told us it could be up to two months for the results to come in. Anyway, they are both pancreatic sufficient, and aren't presenting with too many other symptoms (just nasal polyps in the older one, and pretty much nothing in the younger one) The doc sent us home, and told us they would call us if they found a second mutation. Is it wise to just let it go? Any advice would be appreciated! Thanks!<img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />Carrie

 

[auntcob]

Hi Carrie,

Just wondering if the doc you are talking about is from an accredited CF clinic or your family doc.. In either case, the diagnosis process can be long. Many folks have to wait for those test results and, as a mother who has done it, it is brutal!! My son was diagnosed later in life than typical (14 yrs) and has only mild lung symptoms for now but is pancreatic insufficient.

What lab is doing the screening? Our Cf clinic used genzyme--not the best--ans we had results in two weeks. Maybe you can call in a couple of weeks and see if there are results..........

I do not post often as my son's case seems very different from a typical Cfer. I read the posts and learn alot. I noticed this is your first post. The parents on this forum are incredibly knowledge and admirable in their resolve to best care for their children. You will find alot of support here if you need it.

Chris

 

[auntcob]

Hi Carrie,

Just wondering if the doc you are talking about is from an accredited CF clinic or your family doc.. In either case, the diagnosis process can be long. Many folks have to wait for those test results and, as a mother who has done it, it is brutal!! My son was diagnosed later in life than typical (14 yrs) and has only mild lung symptoms for now but is pancreatic insufficient.

What lab is doing the screening? Our Cf clinic used genzyme--not the best--ans we had results in two weeks. Maybe you can call in a couple of weeks and see if there are results..........

I do not post often as my son's case seems very different from a typical Cfer. I read the posts and learn alot. I noticed this is your first post. The parents on this forum are incredibly knowledge and admirable in their resolve to best care for their children. You will find alot of support here if you need it.

Chris

 

[auntcob]

Hi Carrie,
<br />
<br />Just wondering if the doc you are talking about is from an accredited CF clinic or your family doc.. In either case, the diagnosis process can be long. Many folks have to wait for those test results and, as a mother who has done it, it is brutal!! My son was diagnosed later in life than typical (14 yrs) and has only mild lung symptoms for now but is pancreatic insufficient.
<br />
<br />What lab is doing the screening? Our Cf clinic used genzyme--not the best--ans we had results in two weeks. Maybe you can call in a couple of weeks and see if there are results..........
<br />
<br />I do not post often as my son's case seems very different from a typical Cfer. I read the posts and learn alot. I noticed this is your first post. The parents on this forum are incredibly knowledge and admirable in their resolve to best care for their children. You will find alot of support here if you need it.
<br />
<br />Chris

 

[Mommafirst]

I'm sorry you are going through this. It is a long and stressful road.

To answer your question point blank: NO, it is not adviseable to just drop it. And it doesn't sound like your doctor has either. It sounds like they've sent the bloodwork to Ambry or Genzyme for sequencing. It can take up to 8 weeks, as they basically have to check for every one of the over 1500 possible CF mutations.

I'll be honest, because even though you don't want to hear this, you deserve to not keep getting mixed messages. With positive (over 60) sweat tests and one found mutation, I'd think you are well on your way to this diagnosis.

My daughter is pancreatic sufficient, and it is a huge blessing that makes the management of this disease easier. Unfortunately, its something that can change over time.

Take heart that your kids don't have a lot of symtoms, yet, its not uncommon for them to come on very slowly over years and years. This means you can still get them lots of good preventative care and give them, and their lungs, a long term fighting chance.

 

[Mommafirst]

I'm sorry you are going through this. It is a long and stressful road.

To answer your question point blank: NO, it is not adviseable to just drop it. And it doesn't sound like your doctor has either. It sounds like they've sent the bloodwork to Ambry or Genzyme for sequencing. It can take up to 8 weeks, as they basically have to check for every one of the over 1500 possible CF mutations.

I'll be honest, because even though you don't want to hear this, you deserve to not keep getting mixed messages. With positive (over 60) sweat tests and one found mutation, I'd think you are well on your way to this diagnosis.

My daughter is pancreatic sufficient, and it is a huge blessing that makes the management of this disease easier. Unfortunately, its something that can change over time.

Take heart that your kids don't have a lot of symtoms, yet, its not uncommon for them to come on very slowly over years and years. This means you can still get them lots of good preventative care and give them, and their lungs, a long term fighting chance.

 

[Mommafirst]

I'm sorry you are going through this. It is a long and stressful road.
<br />
<br />To answer your question point blank: NO, it is not adviseable to just drop it. And it doesn't sound like your doctor has either. It sounds like they've sent the bloodwork to Ambry or Genzyme for sequencing. It can take up to 8 weeks, as they basically have to check for every one of the over 1500 possible CF mutations.
<br />
<br />I'll be honest, because even though you don't want to hear this, you deserve to not keep getting mixed messages. With positive (over 60) sweat tests and one found mutation, I'd think you are well on your way to this diagnosis.
<br />
<br />My daughter is pancreatic sufficient, and it is a huge blessing that makes the management of this disease easier. Unfortunately, its something that can change over time.
<br />
<br />Take heart that your kids don't have a lot of symtoms, yet, its not uncommon for them to come on very slowly over years and years. This means you can still get them lots of good preventative care and give them, and their lungs, a long term fighting chance.

 

[Carrie101]

TConfused...

Thanks for the replies!!

We're in Canada, so I'm not sure where the genetic testing is being done. We were being seen at a CF clinic, I just feel as though we've been brushed off for the time being. Oh well, I suppose I just need to work on my patience a little.
Thanks again for the advice!

 

[Carrie101]

TConfused...

Thanks for the replies!!

We're in Canada, so I'm not sure where the genetic testing is being done. We were being seen at a CF clinic, I just feel as though we've been brushed off for the time being. Oh well, I suppose I just need to work on my patience a little.
Thanks again for the advice!

 

[Carrie101]

TConfused...

Thanks for the replies!!
<br />
<br />We're in Canada, so I'm not sure where the genetic testing is being done. We were being seen at a CF clinic, I just feel as though we've been brushed off for the time being. Oh well, I suppose I just need to work on my patience a little.
<br />Thanks again for the advice!

 

[JORDYSMOM]

Hi Carrie, and welcome. I'm sorry you are going through this confusion. It can be very upsetting. It sounds like your clinic is being very thorough. I'm not sure where clinics in Canada send their dna tests, but it does take a while to get results no matter where they go.

I am curious how old your sons are, and what led you to test them in the first place. You said they are PS, and aren't presenting with many other symtpoms at all. With the positive sweat tests, and the common mutation already found, it's likely they will find the other mutation in the extended panel. I'm sure that's why the clinic is waiting to dx.

Please feel free to ask anything you want. Keep us posted on you and your boys.

Stacey

 

[JORDYSMOM]

Hi Carrie, and welcome. I'm sorry you are going through this confusion. It can be very upsetting. It sounds like your clinic is being very thorough. I'm not sure where clinics in Canada send their dna tests, but it does take a while to get results no matter where they go.

I am curious how old your sons are, and what led you to test them in the first place. You said they are PS, and aren't presenting with many other symtpoms at all. With the positive sweat tests, and the common mutation already found, it's likely they will find the other mutation in the extended panel. I'm sure that's why the clinic is waiting to dx.

Please feel free to ask anything you want. Keep us posted on you and your boys.

Stacey

 

[JORDYSMOM]

Hi Carrie, and welcome. I'm sorry you are going through this confusion. It can be very upsetting. It sounds like your clinic is being very thorough. I'm not sure where clinics in Canada send their dna tests, but it does take a while to get results no matter where they go.
<br />
<br />I am curious how old your sons are, and what led you to test them in the first place. You said they are PS, and aren't presenting with many other symtpoms at all. With the positive sweat tests, and the common mutation already found, it's likely they will find the other mutation in the extended panel. I'm sure that's why the clinic is waiting to dx.
<br />
<br />Please feel free to ask anything you want. Keep us posted on you and your boys.
<br />
<br />Stacey

 

[Carrie101]

Hi!
Okay, so according to the provincial health services website, there's a genetics lab in the hospital where the CF clinic is located. Probably run by the province.

Stacey: My boys are Owen(5 yrs) and Seth(3 yrs old). Owen developed some polyps in his nose, which prompted the ear nose and throat doc to order a sweat test. When his test came back positive, we were contacted by the CF clinic, who recommended that we test his brother as well. It was quite the shock to hear that his test was positive as well! He'd always been the healthy one. Owen has always had some breathing issues, but we always thought they were due to asthma, because his symptoms could be controlled with an inhaler.

Anyway, I'm just totally lost. It would be nice to know for sure what's going on, but in the meantime, I'll just be grateful that they have no symptoms.

Thanks again!!
Carrie

 

[Carrie101]

Hi!
Okay, so according to the provincial health services website, there's a genetics lab in the hospital where the CF clinic is located. Probably run by the province.

Stacey: My boys are Owen(5 yrs) and Seth(3 yrs old). Owen developed some polyps in his nose, which prompted the ear nose and throat doc to order a sweat test. When his test came back positive, we were contacted by the CF clinic, who recommended that we test his brother as well. It was quite the shock to hear that his test was positive as well! He'd always been the healthy one. Owen has always had some breathing issues, but we always thought they were due to asthma, because his symptoms could be controlled with an inhaler.

Anyway, I'm just totally lost. It would be nice to know for sure what's going on, but in the meantime, I'll just be grateful that they have no symptoms.

Thanks again!!
Carrie

 

[Carrie101]

Hi!
<br />Okay, so according to the provincial health services website, there's a genetics lab in the hospital where the CF clinic is located. Probably run by the province.
<br />
<br />Stacey: My boys are Owen(5 yrs) and Seth(3 yrs old). Owen developed some polyps in his nose, which prompted the ear nose and throat doc to order a sweat test. When his test came back positive, we were contacted by the CF clinic, who recommended that we test his brother as well. It was quite the shock to hear that his test was positive as well! He'd always been the healthy one. Owen has always had some breathing issues, but we always thought they were due to asthma, because his symptoms could be controlled with an inhaler.
<br />
<br />Anyway, I'm just totally lost. It would be nice to know for sure what's going on, but in the meantime, I'll just be grateful that they have no symptoms.
<br />
<br />Thanks again!!
<br />Carrie