could this be a TRUE diagnosis of CF?

[purplemartin]

Okay, I went back and re-read her post. There was NO other testing done, except for a sweat test, which was negative. I did misread the part about a diagnosis though. The ped thinks that with his body responding so well to the enzymes that there is a chance the child has a rare form of CF (thought it said he gave him a diagnosis)

I guess it bothers me in a way that a Ped would make such a statement but not order genetic testing to be done and then to base his theory on nothing more than pancreatic enzymes working for his patient. It just upsets me to see and fell CF taken so lightly sometimes in the medical community, of all places.

Why can't some docs see that CF is a serious disease, which needs a diagnosis soon so the best treatments can be started.

I did suggest to the poster that genetic testing needed to be done.

Don't know why that statement bothered me so, but it did. Maybe it's just me having one of those days where everything about CF makes me upset. Okay I'm done<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[mom23]

purplemartin,
It sounds as though you are referring to my son, although I don't remember posting our situation on any other forums. If it is my son that you are referring to, hopefully I can clear up some confusion and not cause anymore anger or frustration to any parents out there with CF kids.
My son started losing weight as soon as his breastfeeding slowed down and he started solid foods---losing 2 1/2 pounds in about 3 months. They did the sweat test which was 38, and said that he was negative for CF. He has very foul stools, very loose stools, is bloated a lot, and although taking in at least 2000 calories would hardly put on an ounce. Our ped decided to give the enzymes a try to see what would happen, and his body reacted wonderfully to them, putting on weight, stools not so foul and a little firmer, looking like a healthy kid finally. (Although he still eats at least 2000 calories daily) As soon as we stopped enzymes to see what would happen (per dr orders), he had all of the old symptoms return, except he had diarrhea, but also had a severe fecal impaction (which the CF doc cannot figure out).
My son got the asthma diagnosis in Sept, although neither us or his pulmo can tell if it is totally asthma or some resp issues due to his reflux, which is a whole other story. The respiratory issue is a scary one, as sometimes he will cough so much that he starts gagging.
The pulmo doesn't want to persue any genetic testing right now, since they tested him for 32 mutations and that came back negative. We are persuing the ambry test, and have an appt with our ped this week to see if we can get the test going sooner rather than later. We are not for certain if he has CF or not, but want to know for sure, as there is a family history of it, and of course we want it to come back negative! If the full genetic testing shows that he is negative, then we can cross that possibility off the list, but we want an actual diagnosis so we know how to treat him the most effectively.
Our ped thinks that he may have atypical CF, but has not by any means given him that diagnosis, nor have we. All that we are doing right now is treating him with nebulizers, steroids and enzymes to see if we can keep him as healthy as we can.

 

[mom23]

purplemartin,
It sounds as though you are referring to my son, although I don't remember posting our situation on any other forums. If it is my son that you are referring to, hopefully I can clear up some confusion and not cause anymore anger or frustration to any parents out there with CF kids.
My son started losing weight as soon as his breastfeeding slowed down and he started solid foods---losing 2 1/2 pounds in about 3 months. They did the sweat test which was 38, and said that he was negative for CF. He has very foul stools, very loose stools, is bloated a lot, and although taking in at least 2000 calories would hardly put on an ounce. Our ped decided to give the enzymes a try to see what would happen, and his body reacted wonderfully to them, putting on weight, stools not so foul and a little firmer, looking like a healthy kid finally. (Although he still eats at least 2000 calories daily) As soon as we stopped enzymes to see what would happen (per dr orders), he had all of the old symptoms return, except he had diarrhea, but also had a severe fecal impaction (which the CF doc cannot figure out).
My son got the asthma diagnosis in Sept, although neither us or his pulmo can tell if it is totally asthma or some resp issues due to his reflux, which is a whole other story. The respiratory issue is a scary one, as sometimes he will cough so much that he starts gagging.
The pulmo doesn't want to persue any genetic testing right now, since they tested him for 32 mutations and that came back negative. We are persuing the ambry test, and have an appt with our ped this week to see if we can get the test going sooner rather than later. We are not for certain if he has CF or not, but want to know for sure, as there is a family history of it, and of course we want it to come back negative! If the full genetic testing shows that he is negative, then we can cross that possibility off the list, but we want an actual diagnosis so we know how to treat him the most effectively.
Our ped thinks that he may have atypical CF, but has not by any means given him that diagnosis, nor have we. All that we are doing right now is treating him with nebulizers, steroids and enzymes to see if we can keep him as healthy as we can.

 

[mom23]

purplemartin,
It sounds as though you are referring to my son, although I don't remember posting our situation on any other forums. If it is my son that you are referring to, hopefully I can clear up some confusion and not cause anymore anger or frustration to any parents out there with CF kids.
My son started losing weight as soon as his breastfeeding slowed down and he started solid foods---losing 2 1/2 pounds in about 3 months. They did the sweat test which was 38, and said that he was negative for CF. He has very foul stools, very loose stools, is bloated a lot, and although taking in at least 2000 calories would hardly put on an ounce. Our ped decided to give the enzymes a try to see what would happen, and his body reacted wonderfully to them, putting on weight, stools not so foul and a little firmer, looking like a healthy kid finally. (Although he still eats at least 2000 calories daily) As soon as we stopped enzymes to see what would happen (per dr orders), he had all of the old symptoms return, except he had diarrhea, but also had a severe fecal impaction (which the CF doc cannot figure out).
My son got the asthma diagnosis in Sept, although neither us or his pulmo can tell if it is totally asthma or some resp issues due to his reflux, which is a whole other story. The respiratory issue is a scary one, as sometimes he will cough so much that he starts gagging.
The pulmo doesn't want to persue any genetic testing right now, since they tested him for 32 mutations and that came back negative. We are persuing the ambry test, and have an appt with our ped this week to see if we can get the test going sooner rather than later. We are not for certain if he has CF or not, but want to know for sure, as there is a family history of it, and of course we want it to come back negative! If the full genetic testing shows that he is negative, then we can cross that possibility off the list, but we want an actual diagnosis so we know how to treat him the most effectively.
Our ped thinks that he may have atypical CF, but has not by any means given him that diagnosis, nor have we. All that we are doing right now is treating him with nebulizers, steroids and enzymes to see if we can keep him as healthy as we can.

 

[purplemartin]

Mom23,

Hey there, I don't believe it was your situation I was asking about. The situation I was referring to the child NEVER had additional testing beyond the sweat test as I stated in my previous post. Plus, your son's story is not the same, at all! Sounds like you son is going through a lot right now though; I hope the treatments are giving some relief. Also, I do hope your son's genetic test comes back negative, although I know putting a diagnosis with your son's symptoms will have some relief for you and your family.

The point with my original post was information. I read this ladies post and was curious as to if an actual diagnosis could be made with nothing more than a negative sweat test. It just brought a question to my head, that's all. Nothing more, nothing less! I was not calling any one out to be a "liar" or anything alike (although I know you didn't say I was, I'm just trying to clear anything up that may be taken wrong from my original post-who knows this actual person may come here and read my post) or was I trying to call this person out. Reading her post brought a question to my mind, nothing more.

As I posted earlier, I did misread, a diagnosis was not actually made! Just a conversation between the poster and her child's doc that maybe it is a "rare" form of CF due to the enzymes showing benefit and some 'classic" CF symptoms even though a sweat test came back negative (which I know happens) but NO additional testing seemed to be suggested.

The frustration was due to, from reading this post, that NO additional testing had been suggested to this parent at the time from the doctor. Basically, it upsets me when some in the medical community overlooks, dances around, avoids, CF testing-kind of like talking about it but not dong anything about it. CF is put on the back burner more than it should be!

Like I said, I just had a question. I don't know this parent or the child. Just came across her post on a board I visit and it brought a question to my mind, nothing more!

Sorry for the misunderstanding and best wishes to your family,

 

[purplemartin]

Mom23,

Hey there, I don't believe it was your situation I was asking about. The situation I was referring to the child NEVER had additional testing beyond the sweat test as I stated in my previous post. Plus, your son's story is not the same, at all! Sounds like you son is going through a lot right now though; I hope the treatments are giving some relief. Also, I do hope your son's genetic test comes back negative, although I know putting a diagnosis with your son's symptoms will have some relief for you and your family.

The point with my original post was information. I read this ladies post and was curious as to if an actual diagnosis could be made with nothing more than a negative sweat test. It just brought a question to my head, that's all. Nothing more, nothing less! I was not calling any one out to be a "liar" or anything alike (although I know you didn't say I was, I'm just trying to clear anything up that may be taken wrong from my original post-who knows this actual person may come here and read my post) or was I trying to call this person out. Reading her post brought a question to my mind, nothing more.

As I posted earlier, I did misread, a diagnosis was not actually made! Just a conversation between the poster and her child's doc that maybe it is a "rare" form of CF due to the enzymes showing benefit and some 'classic" CF symptoms even though a sweat test came back negative (which I know happens) but NO additional testing seemed to be suggested.

The frustration was due to, from reading this post, that NO additional testing had been suggested to this parent at the time from the doctor. Basically, it upsets me when some in the medical community overlooks, dances around, avoids, CF testing-kind of like talking about it but not dong anything about it. CF is put on the back burner more than it should be!

Like I said, I just had a question. I don't know this parent or the child. Just came across her post on a board I visit and it brought a question to my mind, nothing more!

Sorry for the misunderstanding and best wishes to your family,

 

[purplemartin]

Mom23,

Hey there, I don't believe it was your situation I was asking about. The situation I was referring to the child NEVER had additional testing beyond the sweat test as I stated in my previous post. Plus, your son's story is not the same, at all! Sounds like you son is going through a lot right now though; I hope the treatments are giving some relief. Also, I do hope your son's genetic test comes back negative, although I know putting a diagnosis with your son's symptoms will have some relief for you and your family.

The point with my original post was information. I read this ladies post and was curious as to if an actual diagnosis could be made with nothing more than a negative sweat test. It just brought a question to my head, that's all. Nothing more, nothing less! I was not calling any one out to be a "liar" or anything alike (although I know you didn't say I was, I'm just trying to clear anything up that may be taken wrong from my original post-who knows this actual person may come here and read my post) or was I trying to call this person out. Reading her post brought a question to my mind, nothing more.

As I posted earlier, I did misread, a diagnosis was not actually made! Just a conversation between the poster and her child's doc that maybe it is a "rare" form of CF due to the enzymes showing benefit and some 'classic" CF symptoms even though a sweat test came back negative (which I know happens) but NO additional testing seemed to be suggested.

The frustration was due to, from reading this post, that NO additional testing had been suggested to this parent at the time from the doctor. Basically, it upsets me when some in the medical community overlooks, dances around, avoids, CF testing-kind of like talking about it but not dong anything about it. CF is put on the back burner more than it should be!

Like I said, I just had a question. I don't know this parent or the child. Just came across her post on a board I visit and it brought a question to my mind, nothing more!

Sorry for the misunderstanding and best wishes to your family,