What would you do?

lalasmomallie · Mar 12, 2007

Hi everyone. I'm really hoping someone may be able to offer some suggestions. Almost 18 months ago, our then 2 y/o dd was diagnosed with toxoplasmosis. Docs thought it was strange that she became sick with it and was then even treated with big time meds for it. ("Healthy kids do not become symptomatic with toxo") Anyway, we were told that it was REALLY rare for her to be sick like she was but they couldn't find out why her immune system was under attack. We traveled to numerous specialists and no one could shed any light on her. Fast forward a year and a half... a local nurse who doesn't even see my child suggested getting a sweat test. Ped basically laughed us away but gave in to "humor us". I found this website and learned enough to ask for the full Ambry panel as well. Once again ped gave in but was very annoyed with me for asking and felt it was a huge waste of time. We were told that she didn't look like a "CF kid". But this is what I see- a 3y/o who has had multiple bouts with pneumonia and chronic sinusitis. A nagging cough that just doesn't seem to stay away( but no allergies). She's in the bottom 5th percentile for weight although she eats great! She was labeled RAD since they couldn't find a better dx to label her. She has fatty stools that float. She complains of tummy pain that they can't find a structural reason for. (An upper GI series only revealed a problem with reflux.) She goes through spells when all she does is lay around on the couch and sleep. She's had episodes of night sweats that are unexplained. Lab work is fairly normal in all areas. The genetic panel found one mutation so she is in the very least a carrier. However, the CF doctor here said that it wasn't worth searching for another mutation or considering her having an unknown one because her sweat test was fine. (It was a 25). He said that it would be very unlikely that she has CF based on the sweat test and that she is only a carrier and that none of these other symptoms are tied in to the possibility of CF.
So my question is - if this was your kiddo, what would you do. Does the sweat test value rule out CF? Do we not worry about the possibility of her having an unknown mutation? I'm needing some guidance from you all who truly know about CF! I've just read about too many of you who have had to fight for a diagnosis and too get your docs to listen to you. We have three other children as well and we will be having the Ambry panel run on them as well as daddy and me in a few weeks to see if there are other kids with the mutation. In the very least I want for our daughters to know if they are carriers. Knowledge is power right? Thanks for reading through my short novel! I truly value what advice you all can offer.

lalasmomallie · Mar 12, 2007

Hi everyone. I'm really hoping someone may be able to offer some suggestions. Almost 18 months ago, our then 2 y/o dd was diagnosed with toxoplasmosis. Docs thought it was strange that she became sick with it and was then even treated with big time meds for it. ("Healthy kids do not become symptomatic with toxo") Anyway, we were told that it was REALLY rare for her to be sick like she was but they couldn't find out why her immune system was under attack. We traveled to numerous specialists and no one could shed any light on her. Fast forward a year and a half... a local nurse who doesn't even see my child suggested getting a sweat test. Ped basically laughed us away but gave in to "humor us". I found this website and learned enough to ask for the full Ambry panel as well. Once again ped gave in but was very annoyed with me for asking and felt it was a huge waste of time. We were told that she didn't look like a "CF kid". But this is what I see- a 3y/o who has had multiple bouts with pneumonia and chronic sinusitis. A nagging cough that just doesn't seem to stay away( but no allergies). She's in the bottom 5th percentile for weight although she eats great! She was labeled RAD since they couldn't find a better dx to label her. She has fatty stools that float. She complains of tummy pain that they can't find a structural reason for. (An upper GI series only revealed a problem with reflux.) She goes through spells when all she does is lay around on the couch and sleep. She's had episodes of night sweats that are unexplained. Lab work is fairly normal in all areas. The genetic panel found one mutation so she is in the very least a carrier. However, the CF doctor here said that it wasn't worth searching for another mutation or considering her having an unknown one because her sweat test was fine. (It was a 25). He said that it would be very unlikely that she has CF based on the sweat test and that she is only a carrier and that none of these other symptoms are tied in to the possibility of CF.
So my question is - if this was your kiddo, what would you do. Does the sweat test value rule out CF? Do we not worry about the possibility of her having an unknown mutation? I'm needing some guidance from you all who truly know about CF! I've just read about too many of you who have had to fight for a diagnosis and too get your docs to listen to you. We have three other children as well and we will be having the Ambry panel run on them as well as daddy and me in a few weeks to see if there are other kids with the mutation. In the very least I want for our daughters to know if they are carriers. Knowledge is power right? Thanks for reading through my short novel! I truly value what advice you all can offer.

lalasmomallie · Mar 12, 2007

Hi everyone. I'm really hoping someone may be able to offer some suggestions. Almost 18 months ago, our then 2 y/o dd was diagnosed with toxoplasmosis. Docs thought it was strange that she became sick with it and was then even treated with big time meds for it. ("Healthy kids do not become symptomatic with toxo") Anyway, we were told that it was REALLY rare for her to be sick like she was but they couldn't find out why her immune system was under attack. We traveled to numerous specialists and no one could shed any light on her. Fast forward a year and a half... a local nurse who doesn't even see my child suggested getting a sweat test. Ped basically laughed us away but gave in to "humor us". I found this website and learned enough to ask for the full Ambry panel as well. Once again ped gave in but was very annoyed with me for asking and felt it was a huge waste of time. We were told that she didn't look like a "CF kid". But this is what I see- a 3y/o who has had multiple bouts with pneumonia and chronic sinusitis. A nagging cough that just doesn't seem to stay away( but no allergies). She's in the bottom 5th percentile for weight although she eats great! She was labeled RAD since they couldn't find a better dx to label her. She has fatty stools that float. She complains of tummy pain that they can't find a structural reason for. (An upper GI series only revealed a problem with reflux.) She goes through spells when all she does is lay around on the couch and sleep. She's had episodes of night sweats that are unexplained. Lab work is fairly normal in all areas. The genetic panel found one mutation so she is in the very least a carrier. However, the CF doctor here said that it wasn't worth searching for another mutation or considering her having an unknown one because her sweat test was fine. (It was a 25). He said that it would be very unlikely that she has CF based on the sweat test and that she is only a carrier and that none of these other symptoms are tied in to the possibility of CF.
So my question is - if this was your kiddo, what would you do. Does the sweat test value rule out CF? Do we not worry about the possibility of her having an unknown mutation? I'm needing some guidance from you all who truly know about CF! I've just read about too many of you who have had to fight for a diagnosis and too get your docs to listen to you. We have three other children as well and we will be having the Ambry panel run on them as well as daddy and me in a few weeks to see if there are other kids with the mutation. In the very least I want for our daughters to know if they are carriers. Knowledge is power right? Thanks for reading through my short novel! I truly value what advice you all can offer.

Samsmom · Mar 12, 2007

Hi!!! I'm sorry to hear that you are having a difficult time right now. Since the rest of the family is going to have genetic testing, I would wait until that comes back and see what info. it gives you. If you find that both parents are carriers then I would consider having a repeat sweat test for your daughter as they can sometimes be false negative. The symptoms you listed sure do sound like cf to me. If you don't get the answers you are looking for then maybe a new doc. would be helpful. I spent 12 years trying to get someone to agree that my daughter had something wrong and went through about a half dozen docs. but my gut instinct was correct. Last spring she was diagnosed with cf and has finally received the care she needs. Never give up is the best advice I can give you. Sometimes the most important job of a parent is to be an advocate for you children. The diagnosis of cf isin't always as clear cut as we would like. My daughter also showed only one mutation with genetic testing ( which was the Ambry full panel, by the way ) but she had a positive sweat test. The two markers combined with her symptoms was what got the diagnosis. Hope I have been of some help. Keep reading the forums as they are wonderful and you will find a lot of support while you go through this process and play the waiting game. Let us know how things turn out. I'll keep you in my thoughts.

Samsmom · Mar 12, 2007

Hi!!! I'm sorry to hear that you are having a difficult time right now. Since the rest of the family is going to have genetic testing, I would wait until that comes back and see what info. it gives you. If you find that both parents are carriers then I would consider having a repeat sweat test for your daughter as they can sometimes be false negative. The symptoms you listed sure do sound like cf to me. If you don't get the answers you are looking for then maybe a new doc. would be helpful. I spent 12 years trying to get someone to agree that my daughter had something wrong and went through about a half dozen docs. but my gut instinct was correct. Last spring she was diagnosed with cf and has finally received the care she needs. Never give up is the best advice I can give you. Sometimes the most important job of a parent is to be an advocate for you children. The diagnosis of cf isin't always as clear cut as we would like. My daughter also showed only one mutation with genetic testing ( which was the Ambry full panel, by the way ) but she had a positive sweat test. The two markers combined with her symptoms was what got the diagnosis. Hope I have been of some help. Keep reading the forums as they are wonderful and you will find a lot of support while you go through this process and play the waiting game. Let us know how things turn out. I'll keep you in my thoughts.

Samsmom · Mar 12, 2007

Hi!!! I'm sorry to hear that you are having a difficult time right now. Since the rest of the family is going to have genetic testing, I would wait until that comes back and see what info. it gives you. If you find that both parents are carriers then I would consider having a repeat sweat test for your daughter as they can sometimes be false negative. The symptoms you listed sure do sound like cf to me. If you don't get the answers you are looking for then maybe a new doc. would be helpful. I spent 12 years trying to get someone to agree that my daughter had something wrong and went through about a half dozen docs. but my gut instinct was correct. Last spring she was diagnosed with cf and has finally received the care she needs. Never give up is the best advice I can give you. Sometimes the most important job of a parent is to be an advocate for you children. The diagnosis of cf isin't always as clear cut as we would like. My daughter also showed only one mutation with genetic testing ( which was the Ambry full panel, by the way ) but she had a positive sweat test. The two markers combined with her symptoms was what got the diagnosis. Hope I have been of some help. Keep reading the forums as they are wonderful and you will find a lot of support while you go through this process and play the waiting game. Let us know how things turn out. I'll keep you in my thoughts.

Mockingbird · Mar 13, 2007

<div class="FTQUOTE"><begin quote>We were told that she didn't look like a "CF kid"</end quote></div>

What exactly does a CF kid look like? =-)

Anyway, tell the CF doctor a sweat test is not always conclusive.

For example:<a target=_blank class=ftalternatingbarlinklarge href="http://www.labtestsonline.org/understanding/analytes/sweat_chloride/test.html">http://www.labtestsonline.org/...eat_chloride/test.html</a>

"A few people with CF will have a normal or inconclusive sweat chloride test and will have to be evaluated using other tests, or the diagnosis may be made on clinical grounds alone."

Mockingbird · Mar 13, 2007

<div class="FTQUOTE"><begin quote>We were told that she didn't look like a "CF kid"</end quote></div>

What exactly does a CF kid look like? =-)

Anyway, tell the CF doctor a sweat test is not always conclusive.

For example:<a target=_blank class=ftalternatingbarlinklarge href="http://www.labtestsonline.org/understanding/analytes/sweat_chloride/test.html">http://www.labtestsonline.org/...eat_chloride/test.html</a>

"A few people with CF will have a normal or inconclusive sweat chloride test and will have to be evaluated using other tests, or the diagnosis may be made on clinical grounds alone."

Mockingbird · Mar 13, 2007

<div class="FTQUOTE"><begin quote>We were told that she didn't look like a "CF kid"</end quote></div>

What exactly does a CF kid look like? =-)

Anyway, tell the CF doctor a sweat test is not always conclusive.

For example:<a target=_blank class=ftalternatingbarlinklarge href="http://www.labtestsonline.org/understanding/analytes/sweat_chloride/test.html">http://www.labtestsonline.org/...eat_chloride/test.html</a>

"A few people with CF will have a normal or inconclusive sweat chloride test and will have to be evaluated using other tests, or the diagnosis may be made on clinical grounds alone."

okok · Mar 13, 2007

Hi,

so is the ambry test you refer to the full panel or is it the Df508 only??? Was the sweat test repeated and if so how many times was the sweat test repeated and what were the other results?? Where were the sweat tests preformed? I would think it is unlikely it is CF if the ambry full panel test was only able to detect one mutation AND if all the other sweat tests were truely negative (25 or lower). However considering your child's symptoms, to be safe, i would probably go see a CF expert at a CF clinic to have your child evaluated. There have been reports of people with two CFTR mutations who have sweat chloride levels as low as 16. However, i should emphasize that not everyone with two CFTER mutations gets a diagnosis of CF. Usually though they are carefully observed in case any symptoms should appear. Also the sweat chloride/sodium ratio can also be suggestive of CF. 50-75% off people with CF have a chloride/sodium ratio of greater than 1 wheras only 10% of people without CF have a ratio greater than 1. (Ie Cfers have more chloride in their sweat than they have sodium.)

If i were you i would ask that your doc go over all the labrotory tests he ran and discuss their relevance to CF. If your doc is knowldegable then he/she should be able to clearly explain your child's lab results and why he/she thinks it is unlikely that your child has CF. Ask your doc what tests he/she ran and how they help differentiate between a CF diagnosis and a not CF diagnosis.

Anyway hope this helps. If your doc knows what he or she is doing then he should be able to answer these questions and shouldn't act too defensive about it. Just politely say that you are a nervous wreck and need to know what lab results other than the neg sweat test and genetic testing led your doc to the conclusion that your child does not have CF. If your doc won't discuss this with you get a new one.

okok · Mar 13, 2007

Hi,

so is the ambry test you refer to the full panel or is it the Df508 only??? Was the sweat test repeated and if so how many times was the sweat test repeated and what were the other results?? Where were the sweat tests preformed? I would think it is unlikely it is CF if the ambry full panel test was only able to detect one mutation AND if all the other sweat tests were truely negative (25 or lower). However considering your child's symptoms, to be safe, i would probably go see a CF expert at a CF clinic to have your child evaluated. There have been reports of people with two CFTR mutations who have sweat chloride levels as low as 16. However, i should emphasize that not everyone with two CFTER mutations gets a diagnosis of CF. Usually though they are carefully observed in case any symptoms should appear. Also the sweat chloride/sodium ratio can also be suggestive of CF. 50-75% off people with CF have a chloride/sodium ratio of greater than 1 wheras only 10% of people without CF have a ratio greater than 1. (Ie Cfers have more chloride in their sweat than they have sodium.)

If i were you i would ask that your doc go over all the labrotory tests he ran and discuss their relevance to CF. If your doc is knowldegable then he/she should be able to clearly explain your child's lab results and why he/she thinks it is unlikely that your child has CF. Ask your doc what tests he/she ran and how they help differentiate between a CF diagnosis and a not CF diagnosis.

Anyway hope this helps. If your doc knows what he or she is doing then he should be able to answer these questions and shouldn't act too defensive about it. Just politely say that you are a nervous wreck and need to know what lab results other than the neg sweat test and genetic testing led your doc to the conclusion that your child does not have CF. If your doc won't discuss this with you get a new one.

okok · Mar 13, 2007

Hi,

so is the ambry test you refer to the full panel or is it the Df508 only??? Was the sweat test repeated and if so how many times was the sweat test repeated and what were the other results?? Where were the sweat tests preformed? I would think it is unlikely it is CF if the ambry full panel test was only able to detect one mutation AND if all the other sweat tests were truely negative (25 or lower). However considering your child's symptoms, to be safe, i would probably go see a CF expert at a CF clinic to have your child evaluated. There have been reports of people with two CFTR mutations who have sweat chloride levels as low as 16. However, i should emphasize that not everyone with two CFTER mutations gets a diagnosis of CF. Usually though they are carefully observed in case any symptoms should appear. Also the sweat chloride/sodium ratio can also be suggestive of CF. 50-75% off people with CF have a chloride/sodium ratio of greater than 1 wheras only 10% of people without CF have a ratio greater than 1. (Ie Cfers have more chloride in their sweat than they have sodium.)

If i were you i would ask that your doc go over all the labrotory tests he ran and discuss their relevance to CF. If your doc is knowldegable then he/she should be able to clearly explain your child's lab results and why he/she thinks it is unlikely that your child has CF. Ask your doc what tests he/she ran and how they help differentiate between a CF diagnosis and a not CF diagnosis.

Anyway hope this helps. If your doc knows what he or she is doing then he should be able to answer these questions and shouldn't act too defensive about it. Just politely say that you are a nervous wreck and need to know what lab results other than the neg sweat test and genetic testing led your doc to the conclusion that your child does not have CF. If your doc won't discuss this with you get a new one.

lalasmomallie · Mar 13, 2007

She did have the full Ambry panel. However, she had only one sweat test performed. Our children's hospital is apparently a CF accreditted site but we have never seen a CF doctor. Just a lab tech in the normal children's lab performed the sweat test. My problem I'm having is that none of the docs we've seen seem to know about CF. (Perfect example - when he said "she doesn't look like a "CF" kid). What in the heck do ya'll's kids look like? Do they wear a label stamped on their forheads? <img src="i/expressions/face-icon-small-smile.gif" border="0"> But seriously, I feel like I've learned more from talking with your support group then any doctor's visit we've made over the past year and a half. I was the one who suggested looking into CF and I was the one who had to find what labs did these tests and I was the one who found out about the different panels they can run and I was the one who demanded a full Ambry panel. I even had to give the office the fax number for Ambry. Then when 6 weeks had gone by, I was the one who had to call around and find out that the hospital lost her report from Ambry that had been sent over two weeks earlier! So this is why I am a bit skeptical that she is only a carrier. I was pretty much so laughed at to even ask about CF as a possibility. (Part of me did smile inside when the ped had to call me and tell me that she was a carrier) I wanted to ask him what crow tasted like but I thought better of it. I may still need this man!
But basically where we stand is that the CF doc (we have one in our area)told our ped that based solely on her sweat test value of 25 that there was almost no way that she had CF. It would be pointless to look for an unknown mutation on her because a CF kid would have a positive sweat value period. When I asked if he could say for sure ,with certainty, that dd does not have CF- of course he had to say no but that if she did it would be one for the journals. So I then asked him to explain all the symptoms she's having that eerily resmble CF and the fact that she does have at least one known mutation. He said she's a carrier and carriers don't have symptoms and that the two are totally unrelated.
So what do I do!!!!!!He's the only Cf doc in our area? Do we travel? Does anyone know of a good contact in the south US. We're in Tennessee but border on Alabama and Georgia. I'll do anything to help my baby.
Thanks for listening to my rampage. I'm just losing it with all of this drama. I know you all can relate and I've never seen a group of more devoted and educated parents anywhere! I feel so very blessed to have found you all.

lalasmomallie · Mar 13, 2007

She did have the full Ambry panel. However, she had only one sweat test performed. Our children's hospital is apparently a CF accreditted site but we have never seen a CF doctor. Just a lab tech in the normal children's lab performed the sweat test. My problem I'm having is that none of the docs we've seen seem to know about CF. (Perfect example - when he said "she doesn't look like a "CF" kid). What in the heck do ya'll's kids look like? Do they wear a label stamped on their forheads? <img src="i/expressions/face-icon-small-smile.gif" border="0"> But seriously, I feel like I've learned more from talking with your support group then any doctor's visit we've made over the past year and a half. I was the one who suggested looking into CF and I was the one who had to find what labs did these tests and I was the one who found out about the different panels they can run and I was the one who demanded a full Ambry panel. I even had to give the office the fax number for Ambry. Then when 6 weeks had gone by, I was the one who had to call around and find out that the hospital lost her report from Ambry that had been sent over two weeks earlier! So this is why I am a bit skeptical that she is only a carrier. I was pretty much so laughed at to even ask about CF as a possibility. (Part of me did smile inside when the ped had to call me and tell me that she was a carrier) I wanted to ask him what crow tasted like but I thought better of it. I may still need this man!
But basically where we stand is that the CF doc (we have one in our area)told our ped that based solely on her sweat test value of 25 that there was almost no way that she had CF. It would be pointless to look for an unknown mutation on her because a CF kid would have a positive sweat value period. When I asked if he could say for sure ,with certainty, that dd does not have CF- of course he had to say no but that if she did it would be one for the journals. So I then asked him to explain all the symptoms she's having that eerily resmble CF and the fact that she does have at least one known mutation. He said she's a carrier and carriers don't have symptoms and that the two are totally unrelated.
So what do I do!!!!!!He's the only Cf doc in our area? Do we travel? Does anyone know of a good contact in the south US. We're in Tennessee but border on Alabama and Georgia. I'll do anything to help my baby.
Thanks for listening to my rampage. I'm just losing it with all of this drama. I know you all can relate and I've never seen a group of more devoted and educated parents anywhere! I feel so very blessed to have found you all.

lalasmomallie · Mar 13, 2007

She did have the full Ambry panel. However, she had only one sweat test performed. Our children's hospital is apparently a CF accreditted site but we have never seen a CF doctor. Just a lab tech in the normal children's lab performed the sweat test. My problem I'm having is that none of the docs we've seen seem to know about CF. (Perfect example - when he said "she doesn't look like a "CF" kid). What in the heck do ya'll's kids look like? Do they wear a label stamped on their forheads? <img src="i/expressions/face-icon-small-smile.gif" border="0"> But seriously, I feel like I've learned more from talking with your support group then any doctor's visit we've made over the past year and a half. I was the one who suggested looking into CF and I was the one who had to find what labs did these tests and I was the one who found out about the different panels they can run and I was the one who demanded a full Ambry panel. I even had to give the office the fax number for Ambry. Then when 6 weeks had gone by, I was the one who had to call around and find out that the hospital lost her report from Ambry that had been sent over two weeks earlier! So this is why I am a bit skeptical that she is only a carrier. I was pretty much so laughed at to even ask about CF as a possibility. (Part of me did smile inside when the ped had to call me and tell me that she was a carrier) I wanted to ask him what crow tasted like but I thought better of it. I may still need this man!
But basically where we stand is that the CF doc (we have one in our area)told our ped that based solely on her sweat test value of 25 that there was almost no way that she had CF. It would be pointless to look for an unknown mutation on her because a CF kid would have a positive sweat value period. When I asked if he could say for sure ,with certainty, that dd does not have CF- of course he had to say no but that if she did it would be one for the journals. So I then asked him to explain all the symptoms she's having that eerily resmble CF and the fact that she does have at least one known mutation. He said she's a carrier and carriers don't have symptoms and that the two are totally unrelated.
So what do I do!!!!!!He's the only Cf doc in our area? Do we travel? Does anyone know of a good contact in the south US. We're in Tennessee but border on Alabama and Georgia. I'll do anything to help my baby.
Thanks for listening to my rampage. I'm just losing it with all of this drama. I know you all can relate and I've never seen a group of more devoted and educated parents anywhere! I feel so very blessed to have found you all.

karon72 · Mar 14, 2007

My daughter was diagnosed with a sweat test, so we did not have to go through all of the other testing & I am not all that familiar. But, can't you have her stools tested or something with her nose???? I am trying to remember other posts, but maybe one of the other members will elaborate more...good luck!

karon72 · Mar 14, 2007

My daughter was diagnosed with a sweat test, so we did not have to go through all of the other testing & I am not all that familiar. But, can't you have her stools tested or something with her nose???? I am trying to remember other posts, but maybe one of the other members will elaborate more...good luck!

karon72 · Mar 14, 2007

My daughter was diagnosed with a sweat test, so we did not have to go through all of the other testing & I am not all that familiar. But, can't you have her stools tested or something with her nose???? I am trying to remember other posts, but maybe one of the other members will elaborate more...good luck!

JazzysMom · Mar 14, 2007

So many symptoms.......the sweat test which was the only dx tool for years is not unflawed. IMHO it should be used in conjunction with genetic testing & evaluation of symptoms. There is always the possibility that the other mutation (if it is exists) is an undiscovered one. Would they consider treating your child as IF there was positive CF dx and that way minimal damage might be done. In the meantime you can push for additional testing etc as the extended panel adds more mutations over the years. As far as "not looking like a CFer". That statement alone pisses me off big time. Not everyone is sickly looking from day 1.....Good Luck!

JazzysMom · Mar 14, 2007

So many symptoms.......the sweat test which was the only dx tool for years is not unflawed. IMHO it should be used in conjunction with genetic testing & evaluation of symptoms. There is always the possibility that the other mutation (if it is exists) is an undiscovered one. Would they consider treating your child as IF there was positive CF dx and that way minimal damage might be done. In the meantime you can push for additional testing etc as the extended panel adds more mutations over the years. As far as "not looking like a CFer". That statement alone pisses me off big time. Not everyone is sickly looking from day 1.....Good Luck!

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