Waiting for Diagnosis

[hmw]

The "Hurry Up And Wait Game" is so hard to endure! I hope you get definitive answers soon so you can get your son on the way to treatment.

Being tired a lot, dark circles, etc would certainly go along with both being constantly ill & being malnourished due to untreated pancreatic insufficiency. My dd looked awful by the time she was dx'ed at age 7.5 (dropped to the 5th percentiles in wt/ht, was very pale, often had dark circles, had no stamina- sometimes even falling asleep on the bus coming home! and was still ready for bed early.)

I understand the unanswered questions part too. My almost-12 yr old is not severely affected like your child is, but he's in the 'we really don't know' category too, and I have no idea at this point what will happen next in trying to figure it out. My primary concern is chronic sinus issues for years and borderline sweat tests of 48 and 54. He has one mutation that we know of (DF508) just like his sister, but we don't know if he has her second, unidentified, mutation or if he's just a carrier. If he indeed has CF, why couldn't he have had a definitive sweat test like his sister?! (She was 108) SO frustrating!!

eta: I understand what you are going through in having a child with multiple health needs, too. My daughter was diagnosed with epilepsy at age 2 after knowing for a while that something 'wasn't right' and for quite some time had a very difficult time of it when other issues came on like knocking over a row of dominoes. It was a crash course of Neurology 101!

 

[hmw]

The "Hurry Up And Wait Game" is so hard to endure! I hope you get definitive answers soon so you can get your son on the way to treatment.

Being tired a lot, dark circles, etc would certainly go along with both being constantly ill & being malnourished due to untreated pancreatic insufficiency. My dd looked awful by the time she was dx'ed at age 7.5 (dropped to the 5th percentiles in wt/ht, was very pale, often had dark circles, had no stamina- sometimes even falling asleep on the bus coming home! and was still ready for bed early.)

I understand the unanswered questions part too. My almost-12 yr old is not severely affected like your child is, but he's in the 'we really don't know' category too, and I have no idea at this point what will happen next in trying to figure it out. My primary concern is chronic sinus issues for years and borderline sweat tests of 48 and 54. He has one mutation that we know of (DF508) just like his sister, but we don't know if he has her second, unidentified, mutation or if he's just a carrier. If he indeed has CF, why couldn't he have had a definitive sweat test like his sister?! (She was 108) SO frustrating!!

eta: I understand what you are going through in having a child with multiple health needs, too. My daughter was diagnosed with epilepsy at age 2 after knowing for a while that something 'wasn't right' and for quite some time had a very difficult time of it when other issues came on like knocking over a row of dominoes. It was a crash course of Neurology 101!

 

[hmw]

The "Hurry Up And Wait Game" is so hard to endure! I hope you get definitive answers soon so you can get your son on the way to treatment.

Being tired a lot, dark circles, etc would certainly go along with both being constantly ill & being malnourished due to untreated pancreatic insufficiency. My dd looked awful by the time she was dx'ed at age 7.5 (dropped to the 5th percentiles in wt/ht, was very pale, often had dark circles, had no stamina- sometimes even falling asleep on the bus coming home! and was still ready for bed early.)

I understand the unanswered questions part too. My almost-12 yr old is not severely affected like your child is, but he's in the 'we really don't know' category too, and I have no idea at this point what will happen next in trying to figure it out. My primary concern is chronic sinus issues for years and borderline sweat tests of 48 and 54. He has one mutation that we know of (DF508) just like his sister, but we don't know if he has her second, unidentified, mutation or if he's just a carrier. If he indeed has CF, why couldn't he have had a definitive sweat test like his sister?! (She was 108) SO frustrating!!

eta: I understand what you are going through in having a child with multiple health needs, too. My daughter was diagnosed with epilepsy at age 2 after knowing for a while that something 'wasn't right' and for quite some time had a very difficult time of it when other issues came on like knocking over a row of dominoes. It was a crash course of Neurology 101!

 

[hmw]

The "Hurry Up And Wait Game" is so hard to endure! I hope you get definitive answers soon so you can get your son on the way to treatment.

Being tired a lot, dark circles, etc would certainly go along with both being constantly ill & being malnourished due to untreated pancreatic insufficiency. My dd looked awful by the time she was dx'ed at age 7.5 (dropped to the 5th percentiles in wt/ht, was very pale, often had dark circles, had no stamina- sometimes even falling asleep on the bus coming home! and was still ready for bed early.)

I understand the unanswered questions part too. My almost-12 yr old is not severely affected like your child is, but he's in the 'we really don't know' category too, and I have no idea at this point what will happen next in trying to figure it out. My primary concern is chronic sinus issues for years and borderline sweat tests of 48 and 54. He has one mutation that we know of (DF508) just like his sister, but we don't know if he has her second, unidentified, mutation or if he's just a carrier. If he indeed has CF, why couldn't he have had a definitive sweat test like his sister?! (She was 108) SO frustrating!!

eta: I understand what you are going through in having a child with multiple health needs, too. My daughter was diagnosed with epilepsy at age 2 after knowing for a while that something 'wasn't right' and for quite some time had a very difficult time of it when other issues came on like knocking over a row of dominoes. It was a crash course of Neurology 101!

 

[hmw]

The "Hurry Up And Wait Game" is so hard to endure! I hope you get definitive answers soon so you can get your son on the way to treatment.
<br />
<br />Being tired a lot, dark circles, etc would certainly go along with both being constantly ill & being malnourished due to untreated pancreatic insufficiency. My dd looked awful by the time she was dx'ed at age 7.5 (dropped to the 5th percentiles in wt/ht, was very pale, often had dark circles, had no stamina- sometimes even falling asleep on the bus coming home! and was still ready for bed early.)
<br />
<br />I understand the unanswered questions part too. My almost-12 yr old is not severely affected like your child is, but he's in the 'we really don't know' category too, and I have no idea at this point what will happen next in trying to figure it out. My primary concern is chronic sinus issues for years and borderline sweat tests of 48 and 54. He has one mutation that we know of (DF508) just like his sister, but we don't know if he has her second, unidentified, mutation or if he's just a carrier. If he indeed has CF, why couldn't he have had a definitive sweat test like his sister?! (She was 108) SO frustrating!!
<br />
<br />eta: I understand what you are going through in having a child with multiple health needs, too. My daughter was diagnosed with epilepsy at age 2 after knowing for a while that something 'wasn't right' and for quite some time had a very difficult time of it when other issues came on like knocking over a row of dominoes. It was a crash course of Neurology 101!

 

[stringbean]

Valerie,
Wow! Two years without a diagnosis!?!? We're going through that right now, but it's only been a few months. My daughter's gastroenterologist sent us for a sweat test just so we can officially rule out CF, but it came back borderline, as did the retest. So we moved on to the genetics testing which found one mutation -- yet I was told she doesn't have CF. She's PI, "below the bottom 1%" in weight and BMI and <5th%ile in height. She does not have chronic lung or sinus problems -- yet her lung x-ray wasn't clear and her sinuses have been swollen for the last six months. The pulmonologist said she doesn't have CF, but wants to see us every six months.

It's so frustrating. If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test. I'm glad you shared your story -- I thought we were the only ones caught in this no man's land of maybe, maybe not... Now I know not to expect a better answer than we have at the moment. I'll have to learn how to live in this limbo until my daughter gets a diagnosis that explains her PI or she has some additional symptoms that point towards CF. Sigh.

 

[stringbean]

Valerie,
Wow! Two years without a diagnosis!?!? We're going through that right now, but it's only been a few months. My daughter's gastroenterologist sent us for a sweat test just so we can officially rule out CF, but it came back borderline, as did the retest. So we moved on to the genetics testing which found one mutation -- yet I was told she doesn't have CF. She's PI, "below the bottom 1%" in weight and BMI and <5th%ile in height. She does not have chronic lung or sinus problems -- yet her lung x-ray wasn't clear and her sinuses have been swollen for the last six months. The pulmonologist said she doesn't have CF, but wants to see us every six months.

It's so frustrating. If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test. I'm glad you shared your story -- I thought we were the only ones caught in this no man's land of maybe, maybe not... Now I know not to expect a better answer than we have at the moment. I'll have to learn how to live in this limbo until my daughter gets a diagnosis that explains her PI or she has some additional symptoms that point towards CF. Sigh.

 

[stringbean]

Valerie,
Wow! Two years without a diagnosis!?!? We're going through that right now, but it's only been a few months. My daughter's gastroenterologist sent us for a sweat test just so we can officially rule out CF, but it came back borderline, as did the retest. So we moved on to the genetics testing which found one mutation -- yet I was told she doesn't have CF. She's PI, "below the bottom 1%" in weight and BMI and <5th%ile in height. She does not have chronic lung or sinus problems -- yet her lung x-ray wasn't clear and her sinuses have been swollen for the last six months. The pulmonologist said she doesn't have CF, but wants to see us every six months.

It's so frustrating. If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test. I'm glad you shared your story -- I thought we were the only ones caught in this no man's land of maybe, maybe not... Now I know not to expect a better answer than we have at the moment. I'll have to learn how to live in this limbo until my daughter gets a diagnosis that explains her PI or she has some additional symptoms that point towards CF. Sigh.

 

[stringbean]

Valerie,
Wow! Two years without a diagnosis!?!? We're going through that right now, but it's only been a few months. My daughter's gastroenterologist sent us for a sweat test just so we can officially rule out CF, but it came back borderline, as did the retest. So we moved on to the genetics testing which found one mutation -- yet I was told she doesn't have CF. She's PI, "below the bottom 1%" in weight and BMI and <5th%ile in height. She does not have chronic lung or sinus problems -- yet her lung x-ray wasn't clear and her sinuses have been swollen for the last six months. The pulmonologist said she doesn't have CF, but wants to see us every six months.

It's so frustrating. If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test. I'm glad you shared your story -- I thought we were the only ones caught in this no man's land of maybe, maybe not... Now I know not to expect a better answer than we have at the moment. I'll have to learn how to live in this limbo until my daughter gets a diagnosis that explains her PI or she has some additional symptoms that point towards CF. Sigh.

 

[stringbean]

Valerie,
<br />Wow! Two years without a diagnosis!?!? We're going through that right now, but it's only been a few months. My daughter's gastroenterologist sent us for a sweat test just so we can officially rule out CF, but it came back borderline, as did the retest. So we moved on to the genetics testing which found one mutation -- yet I was told she doesn't have CF. She's PI, "below the bottom 1%" in weight and BMI and <5th%ile in height. She does not have chronic lung or sinus problems -- yet her lung x-ray wasn't clear and her sinuses have been swollen for the last six months. The pulmonologist said she doesn't have CF, but wants to see us every six months.
<br />
<br />It's so frustrating. If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test. I'm glad you shared your story -- I thought we were the only ones caught in this no man's land of maybe, maybe not... Now I know not to expect a better answer than we have at the moment. I'll have to learn how to live in this limbo until my daughter gets a diagnosis that explains her PI or she has some additional symptoms that point towards CF. Sigh.

 

[hmw]

It's so frustrating to see how many of us have to deal with the unknown. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope we don't have to wait 2 years if he were to turn up positive- even with Shawn not being severely affected, preventative treatment is SO very important when it comes to CF and delaying treatment is just not acceptable!

<div class="FTQUOTE"><begin quote>If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test.</end quote></div>I think that your DD should absolutely get a 2nd opinion with a new pulmonologist, preferably one that is well informed when it comes to CF. <img src="i/expressions/face-icon-small-disgusted.gif" border="0">

 

[hmw]

It's so frustrating to see how many of us have to deal with the unknown. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope we don't have to wait 2 years if he were to turn up positive- even with Shawn not being severely affected, preventative treatment is SO very important when it comes to CF and delaying treatment is just not acceptable!

<div class="FTQUOTE"><begin quote>If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test.</end quote></div>I think that your DD should absolutely get a 2nd opinion with a new pulmonologist, preferably one that is well informed when it comes to CF. <img src="i/expressions/face-icon-small-disgusted.gif" border="0">

 

[hmw]

It's so frustrating to see how many of us have to deal with the unknown. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope we don't have to wait 2 years if he were to turn up positive- even with Shawn not being severely affected, preventative treatment is SO very important when it comes to CF and delaying treatment is just not acceptable!

<div class="FTQUOTE"><begin quote>If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test.</end quote></div>I think that your DD should absolutely get a 2nd opinion with a new pulmonologist, preferably one that is well informed when it comes to CF. <img src="i/expressions/face-icon-small-disgusted.gif" border="0">

 

[hmw]

It's so frustrating to see how many of us have to deal with the unknown. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope we don't have to wait 2 years if he were to turn up positive- even with Shawn not being severely affected, preventative treatment is SO very important when it comes to CF and delaying treatment is just not acceptable!

<div class="FTQUOTE"><begin quote>If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test.</end quote>I think that your DD should absolutely get a 2nd opinion with a new pulmonologist, preferably one that is well informed when it comes to CF. <img src="i/expressions/face-icon-small-disgusted.gif" border="0">

 

[hmw]

It's so frustrating to see how many of us have to deal with the unknown. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I hope we don't have to wait 2 years if he were to turn up positive- even with Shawn not being severely affected, preventative treatment is SO very important when it comes to CF and delaying treatment is just not acceptable!
<br />
<br /><div class="FTQUOTE"><begin quote>If she has a mutation, borderline sweat test and PI, how can CF be ruled out? If she definitely doesn't have CF, why does the pulmonologist need to see her every six months??!! We see her gastro doctor in a couple of weeks and I'm curious what he thinks is causing the PI and the elevated, yet borderline, sweat test.</end quote>I think that your DD should absolutely get a 2nd opinion with a new pulmonologist, preferably one that is well informed when it comes to CF. <img src="i/expressions/face-icon-small-disgusted.gif" border="0">

 

[kate620]

Hey everyone! Yes, I understand the horrible waiting and the maybes and even being told she did not have cf by the most popular cf center in the area. She had borderline sweat test,2 possitive sweat test,and sweat test that didn't have enough sweat to do a test,is pancreatic sufficient,and only 1 identified gene. It was a throat swab by another clinic we went to for a 2nd opinion that diagnosed her because it grew psuedomonas. They also did a broader gene test through Ambry's and found a rare gene. Have yall done that yet? It might help. I was so mad the other clinic never did that test when she had so many pieces of the cf puzzle. She had pneumonia 4times before she was 2yrs old,would run temps up to 105 for 7to14 days at a time,and her xray results would come back with the radiologist saying,need to FU for CF. I was told many times if she had cf she would or wouldnt do_____. Doctors make mistakes too so make sure you don't just accept everything they tell you. If I did ,like I wanted to(I loved when they would tell me she did not have it) she would probably be way sicker and more unreversible lung damage would have occured. It was my mom that knew she had it and kept pushing the doctors. I would have been in ignorant bliss for who knows how long!

The dark circles: My daughter gets those all the time. They say it's from the sinus issues.

Keep your head up! I hope you get a definate answer soon!

 

[kate620]

Hey everyone! Yes, I understand the horrible waiting and the maybes and even being told she did not have cf by the most popular cf center in the area. She had borderline sweat test,2 possitive sweat test,and sweat test that didn't have enough sweat to do a test,is pancreatic sufficient,and only 1 identified gene. It was a throat swab by another clinic we went to for a 2nd opinion that diagnosed her because it grew psuedomonas. They also did a broader gene test through Ambry's and found a rare gene. Have yall done that yet? It might help. I was so mad the other clinic never did that test when she had so many pieces of the cf puzzle. She had pneumonia 4times before she was 2yrs old,would run temps up to 105 for 7to14 days at a time,and her xray results would come back with the radiologist saying,need to FU for CF. I was told many times if she had cf she would or wouldnt do_____. Doctors make mistakes too so make sure you don't just accept everything they tell you. If I did ,like I wanted to(I loved when they would tell me she did not have it) she would probably be way sicker and more unreversible lung damage would have occured. It was my mom that knew she had it and kept pushing the doctors. I would have been in ignorant bliss for who knows how long!

The dark circles: My daughter gets those all the time. They say it's from the sinus issues.

Keep your head up! I hope you get a definate answer soon!

 

[kate620]

Hey everyone! Yes, I understand the horrible waiting and the maybes and even being told she did not have cf by the most popular cf center in the area. She had borderline sweat test,2 possitive sweat test,and sweat test that didn't have enough sweat to do a test,is pancreatic sufficient,and only 1 identified gene. It was a throat swab by another clinic we went to for a 2nd opinion that diagnosed her because it grew psuedomonas. They also did a broader gene test through Ambry's and found a rare gene. Have yall done that yet? It might help. I was so mad the other clinic never did that test when she had so many pieces of the cf puzzle. She had pneumonia 4times before she was 2yrs old,would run temps up to 105 for 7to14 days at a time,and her xray results would come back with the radiologist saying,need to FU for CF. I was told many times if she had cf she would or wouldnt do_____. Doctors make mistakes too so make sure you don't just accept everything they tell you. If I did ,like I wanted to(I loved when they would tell me she did not have it) she would probably be way sicker and more unreversible lung damage would have occured. It was my mom that knew she had it and kept pushing the doctors. I would have been in ignorant bliss for who knows how long!

The dark circles: My daughter gets those all the time. They say it's from the sinus issues.

Keep your head up! I hope you get a definate answer soon!

 

[kate620]

Hey everyone! Yes, I understand the horrible waiting and the maybes and even being told she did not have cf by the most popular cf center in the area. She had borderline sweat test,2 possitive sweat test,and sweat test that didn't have enough sweat to do a test,is pancreatic sufficient,and only 1 identified gene. It was a throat swab by another clinic we went to for a 2nd opinion that diagnosed her because it grew psuedomonas. They also did a broader gene test through Ambry's and found a rare gene. Have yall done that yet? It might help. I was so mad the other clinic never did that test when she had so many pieces of the cf puzzle. She had pneumonia 4times before she was 2yrs old,would run temps up to 105 for 7to14 days at a time,and her xray results would come back with the radiologist saying,need to FU for CF. I was told many times if she had cf she would or wouldnt do_____. Doctors make mistakes too so make sure you don't just accept everything they tell you. If I did ,like I wanted to(I loved when they would tell me she did not have it) she would probably be way sicker and more unreversible lung damage would have occured. It was my mom that knew she had it and kept pushing the doctors. I would have been in ignorant bliss for who knows how long!

The dark circles: My daughter gets those all the time. They say it's from the sinus issues.

Keep your head up! I hope you get a definate answer soon!

 

[kate620]

Hey everyone! Yes, I understand the horrible waiting and the maybes and even being told she did not have cf by the most popular cf center in the area. She had borderline sweat test,2 possitive sweat test,and sweat test that didn't have enough sweat to do a test,is pancreatic sufficient,and only 1 identified gene. It was a throat swab by another clinic we went to for a 2nd opinion that diagnosed her because it grew psuedomonas. They also did a broader gene test through Ambry's and found a rare gene. Have yall done that yet? It might help. I was so mad the other clinic never did that test when she had so many pieces of the cf puzzle. She had pneumonia 4times before she was 2yrs old,would run temps up to 105 for 7to14 days at a time,and her xray results would come back with the radiologist saying,need to FU for CF. I was told many times if she had cf she would or wouldnt do_____. Doctors make mistakes too so make sure you don't just accept everything they tell you. If I did ,like I wanted to(I loved when they would tell me she did not have it) she would probably be way sicker and more unreversible lung damage would have occured. It was my mom that knew she had it and kept pushing the doctors. I would have been in ignorant bliss for who knows how long!
<br />
<br />The dark circles: My daughter gets those all the time. They say it's from the sinus issues.
<br />
<br />Keep your head up! I hope you get a definate answer soon!
<br />