Still waiting for any diagnosis!

Eden

New member
I had originally posted in the Diagnosis area and thanks to everyone that replied. I'm still waiting to find out what could be wrong. My 5 1/2 yo son is in about the 3rd percentile for his weight and has steadily been thinning out over the past couple of years. He was diagnosed with asthma a few years ago and always has an on and off again cough. He's had multiple upper respiratory infections and pneumonia twice. He was prescribed a 14 day course of amoxicillin last month because his doctor said she could hear fluid in his lungs. It helped, at first, now he's started coughing again but not too bad. He coughs a lot in the morning when he first gets up and coughs every now and then throughout the day.

He complains about his stomach hurting a lot and his stool floats in the toilet, but I don't see what looks like oil in the water. Every now and then he won't be able to go for a few days and when he does it's hard (and sinks) for the next few times, then back to mushy and floating. When he was on amoxicillin he had green diarrhea that sank. The doctor requested a stool sample to check for fecal fat and the sample was taken when he was on the antibiotic, which was not an average stool for him. She never called me back so I'm assuming it was normal. Can the antibiotic affect the test results? About 1 week after he finished the amoxicillin he said his stomach hurt really bad and threw up 3 times in about an hour and 15 minutes. He never threw up food, only water and mucus. I called the doctor's office and the nurse said it was probably the flu and that it's normal to throw up only water and mucus once all food has already been vomited. But he never vomited food. She said not to feed him and only give him water for the rest of the day since it was the flu. He was hungry, so I fed him, no vomiting, he was fine. Not sure what that was about. He's thrown up in the past from coughing really hard, but he wasn't coughing.

All these are probably unrelated, but I've been tracking everything. He's pale, has circles under and around his eyes (but so do I), hypersensitive skin, not sure if that's what it's really called, but that's what a doctor told me when he was little. We can lightly run our nail across his skin and you can watch it turn into a red line (my daughter used to "write" on him). He has night sweats a lot, waking up drenched. Sometimes I think his sweat has an odd odor, but I can't quite place it. He seems to almost always have little bruises on his legs and sometimes on his arms. He also complains that his legs hurt, but no cramps. He had hernia repair surgery twice (once on each side). I also have asthma, constant sinus infections and nasal polyps.

He's a very active kid, but not into sports, just likes running and bouncing and doing his own thing. He's incredibly sweet and loving and talks to everybody. It takes us forever to get out of the store because he is so social.

We are heading back to the doctor now because she told us to come in if he starts coughing again before his follow up in July. I really like his doctor but I know if I push too hard to do a sweat test or blood test she'll think I'm being on overly paranoid parent. I'm going to try to sway the conversation in that direction, but I'm thinking she's going to say that since the fecal fat test came back okay (as far as I know) that there's no need for further testing.

Any advice would be great. If anyone wants to share their stories and symptoms that would be great too. There is so much info out there, but I prefer to talk to people with similar symptoms instead of reading "text book" websites. Thanks everyone.
 

Eden

New member
I had originally posted in the Diagnosis area and thanks to everyone that replied. I'm still waiting to find out what could be wrong. My 5 1/2 yo son is in about the 3rd percentile for his weight and has steadily been thinning out over the past couple of years. He was diagnosed with asthma a few years ago and always has an on and off again cough. He's had multiple upper respiratory infections and pneumonia twice. He was prescribed a 14 day course of amoxicillin last month because his doctor said she could hear fluid in his lungs. It helped, at first, now he's started coughing again but not too bad. He coughs a lot in the morning when he first gets up and coughs every now and then throughout the day.

He complains about his stomach hurting a lot and his stool floats in the toilet, but I don't see what looks like oil in the water. Every now and then he won't be able to go for a few days and when he does it's hard (and sinks) for the next few times, then back to mushy and floating. When he was on amoxicillin he had green diarrhea that sank. The doctor requested a stool sample to check for fecal fat and the sample was taken when he was on the antibiotic, which was not an average stool for him. She never called me back so I'm assuming it was normal. Can the antibiotic affect the test results? About 1 week after he finished the amoxicillin he said his stomach hurt really bad and threw up 3 times in about an hour and 15 minutes. He never threw up food, only water and mucus. I called the doctor's office and the nurse said it was probably the flu and that it's normal to throw up only water and mucus once all food has already been vomited. But he never vomited food. She said not to feed him and only give him water for the rest of the day since it was the flu. He was hungry, so I fed him, no vomiting, he was fine. Not sure what that was about. He's thrown up in the past from coughing really hard, but he wasn't coughing.

All these are probably unrelated, but I've been tracking everything. He's pale, has circles under and around his eyes (but so do I), hypersensitive skin, not sure if that's what it's really called, but that's what a doctor told me when he was little. We can lightly run our nail across his skin and you can watch it turn into a red line (my daughter used to "write" on him). He has night sweats a lot, waking up drenched. Sometimes I think his sweat has an odd odor, but I can't quite place it. He seems to almost always have little bruises on his legs and sometimes on his arms. He also complains that his legs hurt, but no cramps. He had hernia repair surgery twice (once on each side). I also have asthma, constant sinus infections and nasal polyps.

He's a very active kid, but not into sports, just likes running and bouncing and doing his own thing. He's incredibly sweet and loving and talks to everybody. It takes us forever to get out of the store because he is so social.

We are heading back to the doctor now because she told us to come in if he starts coughing again before his follow up in July. I really like his doctor but I know if I push too hard to do a sweat test or blood test she'll think I'm being on overly paranoid parent. I'm going to try to sway the conversation in that direction, but I'm thinking she's going to say that since the fecal fat test came back okay (as far as I know) that there's no need for further testing.

Any advice would be great. If anyone wants to share their stories and symptoms that would be great too. There is so much info out there, but I prefer to talk to people with similar symptoms instead of reading "text book" websites. Thanks everyone.
 

Eden

New member
I had originally posted in the Diagnosis area and thanks to everyone that replied. I'm still waiting to find out what could be wrong. My 5 1/2 yo son is in about the 3rd percentile for his weight and has steadily been thinning out over the past couple of years. He was diagnosed with asthma a few years ago and always has an on and off again cough. He's had multiple upper respiratory infections and pneumonia twice. He was prescribed a 14 day course of amoxicillin last month because his doctor said she could hear fluid in his lungs. It helped, at first, now he's started coughing again but not too bad. He coughs a lot in the morning when he first gets up and coughs every now and then throughout the day.
<br />
<br />He complains about his stomach hurting a lot and his stool floats in the toilet, but I don't see what looks like oil in the water. Every now and then he won't be able to go for a few days and when he does it's hard (and sinks) for the next few times, then back to mushy and floating. When he was on amoxicillin he had green diarrhea that sank. The doctor requested a stool sample to check for fecal fat and the sample was taken when he was on the antibiotic, which was not an average stool for him. She never called me back so I'm assuming it was normal. Can the antibiotic affect the test results? About 1 week after he finished the amoxicillin he said his stomach hurt really bad and threw up 3 times in about an hour and 15 minutes. He never threw up food, only water and mucus. I called the doctor's office and the nurse said it was probably the flu and that it's normal to throw up only water and mucus once all food has already been vomited. But he never vomited food. She said not to feed him and only give him water for the rest of the day since it was the flu. He was hungry, so I fed him, no vomiting, he was fine. Not sure what that was about. He's thrown up in the past from coughing really hard, but he wasn't coughing.
<br />
<br />All these are probably unrelated, but I've been tracking everything. He's pale, has circles under and around his eyes (but so do I), hypersensitive skin, not sure if that's what it's really called, but that's what a doctor told me when he was little. We can lightly run our nail across his skin and you can watch it turn into a red line (my daughter used to "write" on him). He has night sweats a lot, waking up drenched. Sometimes I think his sweat has an odd odor, but I can't quite place it. He seems to almost always have little bruises on his legs and sometimes on his arms. He also complains that his legs hurt, but no cramps. He had hernia repair surgery twice (once on each side). I also have asthma, constant sinus infections and nasal polyps.
<br />
<br />He's a very active kid, but not into sports, just likes running and bouncing and doing his own thing. He's incredibly sweet and loving and talks to everybody. It takes us forever to get out of the store because he is so social.
<br />
<br />We are heading back to the doctor now because she told us to come in if he starts coughing again before his follow up in July. I really like his doctor but I know if I push too hard to do a sweat test or blood test she'll think I'm being on overly paranoid parent. I'm going to try to sway the conversation in that direction, but I'm thinking she's going to say that since the fecal fat test came back okay (as far as I know) that there's no need for further testing.
<br />
<br />Any advice would be great. If anyone wants to share their stories and symptoms that would be great too. There is so much info out there, but I prefer to talk to people with similar symptoms instead of reading "text book" websites. Thanks everyone.
 

Ratatosk

Administrator
Staff member
I guess I wouldn't worry about the doctor thinking you're paranoid. Obviously something isn't right with him healthwise, so I would tell her you'd like sweat and genetic blood testing done. If she says no, then tell her to write that in your son's chart that you asked and she refused.

DS' stools were never greasy, but the were fluffy, tended to float instead of sink and a lot of times there'd be a residue along the water line in the toilet bowel from stools that didn't get flushed down on the first try.

DS does tend to sweat a lot, tends to sweat out a LOT of salt in the summer. So much so that his baseball cap has white salt stains. His pjs and sometimes his clothing has a different sort of sweat smell. Not a bad smell, but it's always been a different sort of smell I associate with him.

Have they ever done a sputum culture to see if/what type of respiratory "bug" he's growing and what drugs it might be sensitive to. Culturing Pseudomonas may be an indicator, as it's not normally something a healthy person would culture.

As for the fecal fat test -- you can request your son's medical records -- labs from a certain day, doctor's notes. I do it all the time. And several times I've gotten a call that DS' test results are normal, only to find he's culturing something.
 

Ratatosk

Administrator
Staff member
I guess I wouldn't worry about the doctor thinking you're paranoid. Obviously something isn't right with him healthwise, so I would tell her you'd like sweat and genetic blood testing done. If she says no, then tell her to write that in your son's chart that you asked and she refused.

DS' stools were never greasy, but the were fluffy, tended to float instead of sink and a lot of times there'd be a residue along the water line in the toilet bowel from stools that didn't get flushed down on the first try.

DS does tend to sweat a lot, tends to sweat out a LOT of salt in the summer. So much so that his baseball cap has white salt stains. His pjs and sometimes his clothing has a different sort of sweat smell. Not a bad smell, but it's always been a different sort of smell I associate with him.

Have they ever done a sputum culture to see if/what type of respiratory "bug" he's growing and what drugs it might be sensitive to. Culturing Pseudomonas may be an indicator, as it's not normally something a healthy person would culture.

As for the fecal fat test -- you can request your son's medical records -- labs from a certain day, doctor's notes. I do it all the time. And several times I've gotten a call that DS' test results are normal, only to find he's culturing something.
 

Ratatosk

Administrator
Staff member
I guess I wouldn't worry about the doctor thinking you're paranoid. Obviously something isn't right with him healthwise, so I would tell her you'd like sweat and genetic blood testing done. If she says no, then tell her to write that in your son's chart that you asked and she refused.
<br />
<br />DS' stools were never greasy, but the were fluffy, tended to float instead of sink and a lot of times there'd be a residue along the water line in the toilet bowel from stools that didn't get flushed down on the first try.
<br />
<br />DS does tend to sweat a lot, tends to sweat out a LOT of salt in the summer. So much so that his baseball cap has white salt stains. His pjs and sometimes his clothing has a different sort of sweat smell. Not a bad smell, but it's always been a different sort of smell I associate with him.
<br />
<br />Have they ever done a sputum culture to see if/what type of respiratory "bug" he's growing and what drugs it might be sensitive to. Culturing Pseudomonas may be an indicator, as it's not normally something a healthy person would culture.
<br />
<br />As for the fecal fat test -- you can request your son's medical records -- labs from a certain day, doctor's notes. I do it all the time. And several times I've gotten a call that DS' test results are normal, only to find he's culturing something.
 
S

sdelorenzo

Guest
Welcome. Has he had cf testing, either blood test for genes or sweat test? If so, I think that he should be. Other than the obvious issues of weight problems and asthma, he does have a number of sign that that are common with cf (night sweats, constipation, tummy aches, pale, circles under eyes). Do his hands and feet wrinkle up very quickly when swimming? That is one symptom that most cfers have. You will need to push to get testing it sounds like since it sounds like the doctors aren't working on testing. I would suggest going straight to the closet cf center. You can find them on cff.org. My nephew wasn't diagnosed until he was four. He was even seeing a cf GI specialist for 2 yrs who never tested him until my infant was diagnosed. So I know how it easy it is for drs to miss even with classic symptoms.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 16 months no cf
 
S

sdelorenzo

Guest
Welcome. Has he had cf testing, either blood test for genes or sweat test? If so, I think that he should be. Other than the obvious issues of weight problems and asthma, he does have a number of sign that that are common with cf (night sweats, constipation, tummy aches, pale, circles under eyes). Do his hands and feet wrinkle up very quickly when swimming? That is one symptom that most cfers have. You will need to push to get testing it sounds like since it sounds like the doctors aren't working on testing. I would suggest going straight to the closet cf center. You can find them on cff.org. My nephew wasn't diagnosed until he was four. He was even seeing a cf GI specialist for 2 yrs who never tested him until my infant was diagnosed. So I know how it easy it is for drs to miss even with classic symptoms.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 16 months no cf
 
S

sdelorenzo

Guest
Welcome. Has he had cf testing, either blood test for genes or sweat test? If so, I think that he should be. Other than the obvious issues of weight problems and asthma, he does have a number of sign that that are common with cf (night sweats, constipation, tummy aches, pale, circles under eyes). Do his hands and feet wrinkle up very quickly when swimming? That is one symptom that most cfers have. You will need to push to get testing it sounds like since it sounds like the doctors aren't working on testing. I would suggest going straight to the closet cf center. You can find them on cff.org. My nephew wasn't diagnosed until he was four. He was even seeing a cf GI specialist for 2 yrs who never tested him until my infant was diagnosed. So I know how it easy it is for drs to miss even with classic symptoms.
<br />Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 16 months no cf
 

LisaGreene

New member
I agree with the others- push for testing. You are your child's best advocate. A mother's instincts are not to be ignored- there is so much evidence for this. There are SO MANY stories of CF diagnoses being missed by the professionals and the sooner you know, the better. That's the whole "argument" for newborn screening.

CF has such a huge range of symptoms and every person is different. There are so many different possible mutations and there are differences in symptoms even with similar mutations. Both of my kids have Delta F508 yet are very different in how CF affects them. Start with the sweat test and if that is indeterminate, then you can push for the more expensive genetic testing.

You can be assertive without being pushy. Just lay out your concerns in a matter-of-fact manner and end with, "So, that's why I'd like to get a sweat test just to be on the safe side. When can we schedule it?"

Good luck on getting your test and I hope it comes back negative.
Hugs,
Lisa G.
 

LisaGreene

New member
I agree with the others- push for testing. You are your child's best advocate. A mother's instincts are not to be ignored- there is so much evidence for this. There are SO MANY stories of CF diagnoses being missed by the professionals and the sooner you know, the better. That's the whole "argument" for newborn screening.

CF has such a huge range of symptoms and every person is different. There are so many different possible mutations and there are differences in symptoms even with similar mutations. Both of my kids have Delta F508 yet are very different in how CF affects them. Start with the sweat test and if that is indeterminate, then you can push for the more expensive genetic testing.

You can be assertive without being pushy. Just lay out your concerns in a matter-of-fact manner and end with, "So, that's why I'd like to get a sweat test just to be on the safe side. When can we schedule it?"

Good luck on getting your test and I hope it comes back negative.
Hugs,
Lisa G.
 

LisaGreene

New member
I agree with the others- push for testing. You are your child's best advocate. A mother's instincts are not to be ignored- there is so much evidence for this. There are SO MANY stories of CF diagnoses being missed by the professionals and the sooner you know, the better. That's the whole "argument" for newborn screening.
<br />
<br />CF has such a huge range of symptoms and every person is different. There are so many different possible mutations and there are differences in symptoms even with similar mutations. Both of my kids have Delta F508 yet are very different in how CF affects them. Start with the sweat test and if that is indeterminate, then you can push for the more expensive genetic testing.
<br />
<br />You can be assertive without being pushy. Just lay out your concerns in a matter-of-fact manner and end with, "So, that's why I'd like to get a sweat test just to be on the safe side. When can we schedule it?"
<br />
<br />Good luck on getting your test and I hope it comes back negative.
<br />Hugs,
<br />Lisa G.
 

petnurse

New member
I agree with the others. Also, a fecal elastase test is not diagnostic for CF and that borderlines malpractice to tell you there is no need for further testing. Especially when there obviously is!Some CFers are pancreatic sufficient, by the way, which would mean that test is normal. I woul dflat out ask for a referral to an accredited CF center. Talk to a pulmonologist there. My bet is they will order the sweat test asap. If you have a PPO insurance, bypass your doctor completely and just make an appointment at the Center. Good luck to you and I hope you get some answers very soon :)
<img src="i/expressions/praying.gif" border="0">
 

petnurse

New member
I agree with the others. Also, a fecal elastase test is not diagnostic for CF and that borderlines malpractice to tell you there is no need for further testing. Especially when there obviously is!Some CFers are pancreatic sufficient, by the way, which would mean that test is normal. I woul dflat out ask for a referral to an accredited CF center. Talk to a pulmonologist there. My bet is they will order the sweat test asap. If you have a PPO insurance, bypass your doctor completely and just make an appointment at the Center. Good luck to you and I hope you get some answers very soon :)
<img src="i/expressions/praying.gif" border="0">
 

petnurse

New member
I agree with the others. Also, a fecal elastase test is not diagnostic for CF and that borderlines malpractice to tell you there is no need for further testing. Especially when there obviously is!Some CFers are pancreatic sufficient, by the way, which would mean that test is normal. I woul dflat out ask for a referral to an accredited CF center. Talk to a pulmonologist there. My bet is they will order the sweat test asap. If you have a PPO insurance, bypass your doctor completely and just make an appointment at the Center. Good luck to you and I hope you get some answers very soon :)
<br /><img src="i/expressions/praying.gif" border="0">
 

martysmom

New member
So sorry you are going through all of this. I can certainly relate to your situation. I would keep pushing and not worry about what the doctors think of you for it. I always think that they must dread seeing or hearing from me because I am constantly pushing and asking questions. I just don't care what they think of me as long as they just help my son.
My little boy has every sign and symptom of CF. He is pancreatic insufficient and takes a high dose of enzymes, has a borderline sweat test, recurrent pneumonia, cultures weird bugs in his sputum, and sweats out a lot of salt in the heat. I can actually see the salt on his hairline and on the back of his neck. They have not yet identified his mutations and we have been going for years without a diagnosis. It is so hard to see your child so ill and have no answers and for doctors to be so conservative on treatments. We switched doctors and she immediately began treating him for CF. We have just accepted this as what we have been dealing with.
When my son was a baby he would have srange stools and I didn't really know that they were abnormal. They just got worse as he got older. I would often see orange grease marks in his pullups(sorry if TMI). His belly was always swollen and full of gas and his stools were gigantic and very greasy and loose.
Im not sure is excessive sweating is directly related to CF but my son sweats so much. All the other kids he plays with will be running aroung and none of them are sweaty and poor marty is drenched.
I hope you find answers real soon and that you can find peace with all of this. Before Marty was on enzymes we would have to stay home all day so that he could eat like crazy and just poop all the time. Now with the proper treatments he is the happiest little thing!
Stay strong and keep pushing! I will keep you in my prayers! Feel free to ask me any questions!!
 

martysmom

New member
So sorry you are going through all of this. I can certainly relate to your situation. I would keep pushing and not worry about what the doctors think of you for it. I always think that they must dread seeing or hearing from me because I am constantly pushing and asking questions. I just don't care what they think of me as long as they just help my son.
My little boy has every sign and symptom of CF. He is pancreatic insufficient and takes a high dose of enzymes, has a borderline sweat test, recurrent pneumonia, cultures weird bugs in his sputum, and sweats out a lot of salt in the heat. I can actually see the salt on his hairline and on the back of his neck. They have not yet identified his mutations and we have been going for years without a diagnosis. It is so hard to see your child so ill and have no answers and for doctors to be so conservative on treatments. We switched doctors and she immediately began treating him for CF. We have just accepted this as what we have been dealing with.
When my son was a baby he would have srange stools and I didn't really know that they were abnormal. They just got worse as he got older. I would often see orange grease marks in his pullups(sorry if TMI). His belly was always swollen and full of gas and his stools were gigantic and very greasy and loose.
Im not sure is excessive sweating is directly related to CF but my son sweats so much. All the other kids he plays with will be running aroung and none of them are sweaty and poor marty is drenched.
I hope you find answers real soon and that you can find peace with all of this. Before Marty was on enzymes we would have to stay home all day so that he could eat like crazy and just poop all the time. Now with the proper treatments he is the happiest little thing!
Stay strong and keep pushing! I will keep you in my prayers! Feel free to ask me any questions!!
 

martysmom

New member
So sorry you are going through all of this. I can certainly relate to your situation. I would keep pushing and not worry about what the doctors think of you for it. I always think that they must dread seeing or hearing from me because I am constantly pushing and asking questions. I just don't care what they think of me as long as they just help my son.
<br /> My little boy has every sign and symptom of CF. He is pancreatic insufficient and takes a high dose of enzymes, has a borderline sweat test, recurrent pneumonia, cultures weird bugs in his sputum, and sweats out a lot of salt in the heat. I can actually see the salt on his hairline and on the back of his neck. They have not yet identified his mutations and we have been going for years without a diagnosis. It is so hard to see your child so ill and have no answers and for doctors to be so conservative on treatments. We switched doctors and she immediately began treating him for CF. We have just accepted this as what we have been dealing with.
<br />When my son was a baby he would have srange stools and I didn't really know that they were abnormal. They just got worse as he got older. I would often see orange grease marks in his pullups(sorry if TMI). His belly was always swollen and full of gas and his stools were gigantic and very greasy and loose.
<br />Im not sure is excessive sweating is directly related to CF but my son sweats so much. All the other kids he plays with will be running aroung and none of them are sweaty and poor marty is drenched.
<br />I hope you find answers real soon and that you can find peace with all of this. Before Marty was on enzymes we would have to stay home all day so that he could eat like crazy and just poop all the time. Now with the proper treatments he is the happiest little thing!
<br />Stay strong and keep pushing! I will keep you in my prayers! Feel free to ask me any questions!!
 

Camsmom2009

New member
Get the sweat test. It's definitive. NEVER worry about searching for the best treatment for your kids! To heck with what the doctor will think. My son is 16 years, and only diagnosed a year and a half ago. He was treated for allergies since he was a few months old and only diagnosed correctly when his pediatrician referred him to an allergy specialist right after he turned 15. That was because he was NOT getting better and losing weight. (He has gone to the same pediatrician since birth.) All signs you are describing were there and I think regular doctor offices just don't have the knowledge of CF. The bad thing about diagnosis is you don't want your kid to have something like this, but good thing is once treatment starts, there is such a BIG improvement in quality of life just having the correct diagnosis. Good luck!
 

Camsmom2009

New member
Get the sweat test. It's definitive. NEVER worry about searching for the best treatment for your kids! To heck with what the doctor will think. My son is 16 years, and only diagnosed a year and a half ago. He was treated for allergies since he was a few months old and only diagnosed correctly when his pediatrician referred him to an allergy specialist right after he turned 15. That was because he was NOT getting better and losing weight. (He has gone to the same pediatrician since birth.) All signs you are describing were there and I think regular doctor offices just don't have the knowledge of CF. The bad thing about diagnosis is you don't want your kid to have something like this, but good thing is once treatment starts, there is such a BIG improvement in quality of life just having the correct diagnosis. Good luck!
 
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