Still waiting for any diagnosis!

[Camsmom2009]

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!

 

[Eden]

Thanks everyone. You are all right, I need to push the doctors more. At the last appt., which was last Thursday, his doctor said that as of now it seems like he has just a head cold or allergies. He's only coughing in the mornings, with the exception of waking up one night coughing. I'm scared it will turn into something more so I'm going to keep a careful eye on him. I didn't push for the sweat test Thursday, I know I should have, but I did bring up all of his symptoms I could think of at that moment (I had them written down but left the paper at home). I was surprised when she seemed concerned about the night sweats, I thought she would just imply that he was overheated. I kissed him goodbye on the forehead this morning (he was still asleep) before I left for work and he definitely tasted salty, actually kind of bitter, is that normal?

His doctor had her office call and set up an appt. with a pediatric GI specialist. They called yesterday and told me the earliest is July 27th! I told them I need something sooner and they are supposed to call me back today and let me know. I took him to see Karate Kid after lunch on Saturday and the poor baby looked at me part way through the movie and said I have to go potty now. I rushed him to the bathroom and he just made it in time. Lot's and lot's of loose floating stool and it smelled terrible, which is not unusual. Sometimes, although rarely, he has more regular looking stools, sometimes he has stools that are just broken up and floating and then other times he has these horrible loose floating stools in large quantities. I'm wondering if it could depend on what he's eating. I'm going to start writing down what he eats and track his stools every day to see if the loose floating stools are related to any specific type of food. He complains about his belly just about every day.

Ratatosk, thanks for the advice on the sputum culture, he's never had that done and I'm going to bring that up with the doctor and request a copy of all of his medical records. When requesting medical records, do I just call the doctor's office and ask them to send me all of his medical records?

sdelorenzo, he has never been sweat or genetic tested, but hopefully soon. Yes, his fingers wrinkle up quickly when swimming or in the bath, but I'm not sure how fast is considered fast. I'm going to time it.

LisaGreene, "So, that's why I'd like to get a sweat test just to be on the safe side. When can we schedule it?",
that is so perfect I'm going to work on being more assertive.

petnurse, thanks, I am in VA and the University of Virginia Hospital has a CF accredited center. I'm going to contact them or ask my doctor for the referral, I think I need the referral for my insurance.

martysmom, I'm so sorry you have been struggling to get a diagnosis for so long. I've been dealing with the symptoms all his life, but never thought of CF until only a month or so ago. I can't imagine going on without a diagnosis for years. It's great that he's being treated for CF even without the official diagnosis. My boy sweats quickly too, he's always the one that has wet hair from sweating and all the other kids are running around perfectly dry.

Camsmom2009, you're right, getting treatment started and therefore improving his quality of life is most important. I am of course scared to actually receive the diagnosis, but I have to push past that fear and take care of my little boy the best I can.

I'll keep everyone posted. Anyone who wants to PM me or discuss anything else let me know. I think talking (or typing) with other people in similar situations is great therapy.

 

[Eden]

Thanks everyone. You are all right, I need to push the doctors more. At the last appt., which was last Thursday, his doctor said that as of now it seems like he has just a head cold or allergies. He's only coughing in the mornings, with the exception of waking up one night coughing. I'm scared it will turn into something more so I'm going to keep a careful eye on him. I didn't push for the sweat test Thursday, I know I should have, but I did bring up all of his symptoms I could think of at that moment (I had them written down but left the paper at home). I was surprised when she seemed concerned about the night sweats, I thought she would just imply that he was overheated. I kissed him goodbye on the forehead this morning (he was still asleep) before I left for work and he definitely tasted salty, actually kind of bitter, is that normal?

His doctor had her office call and set up an appt. with a pediatric GI specialist. They called yesterday and told me the earliest is July 27th! I told them I need something sooner and they are supposed to call me back today and let me know. I took him to see Karate Kid after lunch on Saturday and the poor baby looked at me part way through the movie and said I have to go potty now. I rushed him to the bathroom and he just made it in time. Lot's and lot's of loose floating stool and it smelled terrible, which is not unusual. Sometimes, although rarely, he has more regular looking stools, sometimes he has stools that are just broken up and floating and then other times he has these horrible loose floating stools in large quantities. I'm wondering if it could depend on what he's eating. I'm going to start writing down what he eats and track his stools every day to see if the loose floating stools are related to any specific type of food. He complains about his belly just about every day.

Ratatosk, thanks for the advice on the sputum culture, he's never had that done and I'm going to bring that up with the doctor and request a copy of all of his medical records. When requesting medical records, do I just call the doctor's office and ask them to send me all of his medical records?

sdelorenzo, he has never been sweat or genetic tested, but hopefully soon. Yes, his fingers wrinkle up quickly when swimming or in the bath, but I'm not sure how fast is considered fast. I'm going to time it.

LisaGreene, "So, that's why I'd like to get a sweat test just to be on the safe side. When can we schedule it?",
that is so perfect I'm going to work on being more assertive.

petnurse, thanks, I am in VA and the University of Virginia Hospital has a CF accredited center. I'm going to contact them or ask my doctor for the referral, I think I need the referral for my insurance.

martysmom, I'm so sorry you have been struggling to get a diagnosis for so long. I've been dealing with the symptoms all his life, but never thought of CF until only a month or so ago. I can't imagine going on without a diagnosis for years. It's great that he's being treated for CF even without the official diagnosis. My boy sweats quickly too, he's always the one that has wet hair from sweating and all the other kids are running around perfectly dry.

Camsmom2009, you're right, getting treatment started and therefore improving his quality of life is most important. I am of course scared to actually receive the diagnosis, but I have to push past that fear and take care of my little boy the best I can.

I'll keep everyone posted. Anyone who wants to PM me or discuss anything else let me know. I think talking (or typing) with other people in similar situations is great therapy.

 

[Eden]

Thanks everyone. You are all right, I need to push the doctors more. At the last appt., which was last Thursday, his doctor said that as of now it seems like he has just a head cold or allergies. He's only coughing in the mornings, with the exception of waking up one night coughing. I'm scared it will turn into something more so I'm going to keep a careful eye on him. I didn't push for the sweat test Thursday, I know I should have, but I did bring up all of his symptoms I could think of at that moment (I had them written down but left the paper at home). I was surprised when she seemed concerned about the night sweats, I thought she would just imply that he was overheated. I kissed him goodbye on the forehead this morning (he was still asleep) before I left for work and he definitely tasted salty, actually kind of bitter, is that normal?
<br />
<br />His doctor had her office call and set up an appt. with a pediatric GI specialist. They called yesterday and told me the earliest is July 27th! I told them I need something sooner and they are supposed to call me back today and let me know. I took him to see Karate Kid after lunch on Saturday and the poor baby looked at me part way through the movie and said I have to go potty now. I rushed him to the bathroom and he just made it in time. Lot's and lot's of loose floating stool and it smelled terrible, which is not unusual. Sometimes, although rarely, he has more regular looking stools, sometimes he has stools that are just broken up and floating and then other times he has these horrible loose floating stools in large quantities. I'm wondering if it could depend on what he's eating. I'm going to start writing down what he eats and track his stools every day to see if the loose floating stools are related to any specific type of food. He complains about his belly just about every day.
<br />
<br />Ratatosk, thanks for the advice on the sputum culture, he's never had that done and I'm going to bring that up with the doctor and request a copy of all of his medical records. When requesting medical records, do I just call the doctor's office and ask them to send me all of his medical records?
<br />
<br />sdelorenzo, he has never been sweat or genetic tested, but hopefully soon. Yes, his fingers wrinkle up quickly when swimming or in the bath, but I'm not sure how fast is considered fast. I'm going to time it.
<br />
<br />LisaGreene, "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 />that is so perfect I'm going to work on being more assertive.
<br />
<br />petnurse, thanks, I am in VA and the University of Virginia Hospital has a CF accredited center. I'm going to contact them or ask my doctor for the referral, I think I need the referral for my insurance.
<br />
<br />martysmom, I'm so sorry you have been struggling to get a diagnosis for so long. I've been dealing with the symptoms all his life, but never thought of CF until only a month or so ago. I can't imagine going on without a diagnosis for years. It's great that he's being treated for CF even without the official diagnosis. My boy sweats quickly too, he's always the one that has wet hair from sweating and all the other kids are running around perfectly dry.
<br />
<br />Camsmom2009, you're right, getting treatment started and therefore improving his quality of life is most important. I am of course scared to actually receive the diagnosis, but I have to push past that fear and take care of my little boy the best I can.
<br />
<br />I'll keep everyone posted. Anyone who wants to PM me or discuss anything else let me know. I think talking (or typing) with other people in similar situations is great therapy.

 

[JORDYSMOM]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Camsmom2009</b></i>

Get the sweat test. It's definitive. </end quote></div>



Sweat test are NOT definitive at all! It worries me that a doctor/clinic may have told you this?? We have so many members here who had negative sweat test, but have CF. The only way you can rule out CF is to have the full panel genetic testing.

With all of the symptoms you are describing, I think your child needs to be taken to a certified CF center right away. You may be forced by your ins. carrier to do a sweat test first, but keep pushing for the genetic test. Don't just accept a negative or borderline sweat test result with these symptoms.

I'm so sorry your child is going through so much. My son was dx at 15, so I understand what it's like to go through so many years of being told it's nothing, and watching your child struggle. <img src="i/expressions/face-icon-small-sad.gif" border="0">

Stacey

 

[JORDYSMOM]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Camsmom2009</b></i>

Get the sweat test. It's definitive. </end quote>



Sweat test are NOT definitive at all! It worries me that a doctor/clinic may have told you this?? We have so many members here who had negative sweat test, but have CF. The only way you can rule out CF is to have the full panel genetic testing.

With all of the symptoms you are describing, I think your child needs to be taken to a certified CF center right away. You may be forced by your ins. carrier to do a sweat test first, but keep pushing for the genetic test. Don't just accept a negative or borderline sweat test result with these symptoms.

I'm so sorry your child is going through so much. My son was dx at 15, so I understand what it's like to go through so many years of being told it's nothing, and watching your child struggle. <img src="i/expressions/face-icon-small-sad.gif" border="0">

Stacey

 

[JORDYSMOM]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Camsmom2009</b></i>
<br />
<br />Get the sweat test. It's definitive. </end quote>
<br />
<br />
<br />
<br />Sweat test are NOT definitive at all! It worries me that a doctor/clinic may have told you this?? We have so many members here who had negative sweat test, but have CF. The only way you can rule out CF is to have the full panel genetic testing.
<br />
<br />With all of the symptoms you are describing, I think your child needs to be taken to a certified CF center right away. You may be forced by your ins. carrier to do a sweat test first, but keep pushing for the genetic test. Don't just accept a negative or borderline sweat test result with these symptoms.
<br />
<br />I'm so sorry your child is going through so much. My son was dx at 15, so I understand what it's like to go through so many years of being told it's nothing, and watching your child struggle. <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />Stacey

 

[ktsmom]

Your description of the potty episode at the movies is like countless similar experiences we had with our daugter before she was diagnosed at age 3 1/2. Also symptoms in your original post - the asthma, falling off the growth charts, pale, etc. Our daughter had not-so-major lung issues but did have horrible screaming tummy problems, SIGNIFICANT malabsorption symptoms, etc. and the pediatrician insisted it was lactose intolerance. Only when he (finally) consulted with a Pediatric GI was the suggestion made to test to "rule out" CF. Therefore I strongly encourage you to make the ped GI see you as soon as possible. Good luck!


Edtited to add - I think one of our regular adults has posted about night sweats being related to reflux. Reflux can be an issue for cf'ers.

 

[ktsmom]

Your description of the potty episode at the movies is like countless similar experiences we had with our daugter before she was diagnosed at age 3 1/2. Also symptoms in your original post - the asthma, falling off the growth charts, pale, etc. Our daughter had not-so-major lung issues but did have horrible screaming tummy problems, SIGNIFICANT malabsorption symptoms, etc. and the pediatrician insisted it was lactose intolerance. Only when he (finally) consulted with a Pediatric GI was the suggestion made to test to "rule out" CF. Therefore I strongly encourage you to make the ped GI see you as soon as possible. Good luck!


Edtited to add - I think one of our regular adults has posted about night sweats being related to reflux. Reflux can be an issue for cf'ers.

 

[ktsmom]

Your description of the potty episode at the movies is like countless similar experiences we had with our daugter before she was diagnosed at age 3 1/2. Also symptoms in your original post - the asthma, falling off the growth charts, pale, etc. Our daughter had not-so-major lung issues but did have horrible screaming tummy problems, SIGNIFICANT malabsorption symptoms, etc. and the pediatrician insisted it was lactose intolerance. Only when he (finally) consulted with a Pediatric GI was the suggestion made to test to "rule out" CF. Therefore I strongly encourage you to make the ped GI see you as soon as possible. Good luck!
<br />
<br />
<br />Edtited to add - I think one of our regular adults has posted about night sweats being related to reflux. Reflux can be an issue for cf'ers.

 

[Ratatosk]

DS had similar issues with loose stools, especially last summer when he was having issues with his enzymes. Loose, bulky stools -- broke apart easily when flushing and sometimes would leave a sticky, residue along the waterline in the bowl. I scrubbed the toilet at least once or twice a day.

And yes, when I kiss him, especially during the summer, I taste salt on my lips.

IMO, call your doctor's office and mention all the items you mentioned here that you didn't indicate during your child's appointment. Try to get an earlier appointment with the GI doctor and get the ball rolling for tests -- fecal fat (elastase), sweat, genetic blood testing, sputum/throat culture. That article published a few days ago about adult diagnosis indicated that Laura, who was told she had allergies and asthma all those years was diagnosed due to a pseudomonas culture!

As for requesting medical records -- most of the places I deal with have a separate department called release of information/records. I usually go online and download the form to mail in and ask that a copy be sent to me at home. Sometimes I indicate I needed it for our records, other times, I indicate it's for further treatment at another facility.

 

[Ratatosk]

DS had similar issues with loose stools, especially last summer when he was having issues with his enzymes. Loose, bulky stools -- broke apart easily when flushing and sometimes would leave a sticky, residue along the waterline in the bowl. I scrubbed the toilet at least once or twice a day.

And yes, when I kiss him, especially during the summer, I taste salt on my lips.

IMO, call your doctor's office and mention all the items you mentioned here that you didn't indicate during your child's appointment. Try to get an earlier appointment with the GI doctor and get the ball rolling for tests -- fecal fat (elastase), sweat, genetic blood testing, sputum/throat culture. That article published a few days ago about adult diagnosis indicated that Laura, who was told she had allergies and asthma all those years was diagnosed due to a pseudomonas culture!

As for requesting medical records -- most of the places I deal with have a separate department called release of information/records. I usually go online and download the form to mail in and ask that a copy be sent to me at home. Sometimes I indicate I needed it for our records, other times, I indicate it's for further treatment at another facility.

 

[Ratatosk]

DS had similar issues with loose stools, especially last summer when he was having issues with his enzymes. Loose, bulky stools -- broke apart easily when flushing and sometimes would leave a sticky, residue along the waterline in the bowl. I scrubbed the toilet at least once or twice a day.
<br />
<br />And yes, when I kiss him, especially during the summer, I taste salt on my lips.
<br />
<br />IMO, call your doctor's office and mention all the items you mentioned here that you didn't indicate during your child's appointment. Try to get an earlier appointment with the GI doctor and get the ball rolling for tests -- fecal fat (elastase), sweat, genetic blood testing, sputum/throat culture. That article published a few days ago about adult diagnosis indicated that Laura, who was told she had allergies and asthma all those years was diagnosed due to a pseudomonas culture!
<br />
<br />As for requesting medical records -- most of the places I deal with have a separate department called release of information/records. I usually go online and download the form to mail in and ask that a copy be sent to me at home. Sometimes I indicate I needed it for our records, other times, I indicate it's for further treatment at another facility.

 

[Ratatosk]

Oh, and I found a "lovely" poop picture from last year on my computer at home the other day which apparently my son took with my digital camera and I inadvertantly uploaded (& emailed to friends and family). <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Ratatosk]

Oh, and I found a "lovely" poop picture from last year on my computer at home the other day which apparently my son took with my digital camera and I inadvertantly uploaded (& emailed to friends and family). <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Ratatosk]

Oh, and I found a "lovely" poop picture from last year on my computer at home the other day which apparently my son took with my digital camera and I inadvertantly uploaded (& emailed to friends and family). <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[zaj1139]

Not sure if anyone suggested this but I just found it on a link and thought of you:

Cystic fibrosis is the most common cause of pancreatic insufficiency in children, but a condition called Shwachman-Diamond Syndrome (SDS) is the second most common cause.

 

[zaj1139]

Not sure if anyone suggested this but I just found it on a link and thought of you:

Cystic fibrosis is the most common cause of pancreatic insufficiency in children, but a condition called Shwachman-Diamond Syndrome (SDS) is the second most common cause.

 

[zaj1139]

Not sure if anyone suggested this but I just found it on a link and thought of you:
<br />
<br />Cystic fibrosis is the most common cause of pancreatic insufficiency in children, but a condition called Shwachman-Diamond Syndrome (SDS) is the second most common cause.

 

[sdelorenzo]

Call the pediatricians office and ask the nurse what is the name of the GI dr who they are referring him to. Call that GI dr yourself and ask to speak to his/her nurse. Explain to the nurse ALL of his symptoms and that you are very concerned. If you get a voicemail of the nurse, leave the symptoms, just don't ask to get a call back. That should help you get in ASAP, not end of July.
Sharon, mom of Sophia, 8 and Jack, 6 both with CF, Grant, 17 months no CF