Question about Diagnosis

[anonymous]

Just an update:
The nurse at the 2nd opinion doctor (pulmonologist) called me today. She said that she was telling my case to the CF clinic and they want to go ahead and see my son this Thursday. Wow! I am amazed that this nurse cared enough to share our situation and to get us in at the right place. His appointment was just with a pulmonolgist that had some speciality in CF and was 2/24. The wait is finally over and we will get direct answers from the right doctors. It is great to know that I have been heard and someone does care. Thank you all for sharing your stories... I have pushed and been very persistant and it paid off. I hope that Thursday my husband and I get a lot of questions answered and we understand our situation better.

Jenny

 

[anonymous]

Just an update:
The nurse at the 2nd opinion doctor (pulmonologist) called me today. She said that she was telling my case to the CF clinic and they want to go ahead and see my son this Thursday. Wow! I am amazed that this nurse cared enough to share our situation and to get us in at the right place. His appointment was just with a pulmonolgist that had some speciality in CF and was 2/24. The wait is finally over and we will get direct answers from the right doctors. It is great to know that I have been heard and someone does care. Thank you all for sharing your stories... I have pushed and been very persistant and it paid off. I hope that Thursday my husband and I get a lot of questions answered and we understand our situation better.

Jenny

 

[julie]

Good to here, keep us updated, I am curious to know what the outcome is. I'll be praying for negative!!!

 

[julie]

Good to here, keep us updated, I am curious to know what the outcome is. I'll be praying for negative!!!

 

[anonymous]

DS's sweat test was 32, which is considered normal. He was born with a bowel obstruction because of meconium illeus, which required surgery. His blood tests --- showed double delta f508 -- pretty much classic CF. Liza

 

[anonymous]

DS's sweat test was 32, which is considered normal. He was born with a bowel obstruction because of meconium illeus, which required surgery. His blood tests --- showed double delta f508 -- pretty much classic CF. Liza

 

[Shavon]

Hi, I am also like Jenny. I am new to this. My son Garrett is 5 and ever since he was 6 months old he has been sick. He was hospitalized with severe phnemonia and rsv at least 3-4 times. Once he turned 2 years old he sort of grew out of it beside the allergys and sinus infections and ear infections but now with antibotics he is able to fight these infections and before a common ear infection could send him to the hospital. When he was 2 years old they diagnosed him with IgA defiency but my dr felt he was doing better and could possibly not have the immunegloblin theropy. So far he is doing well except for this constant cough at night that sometimes makes him vomit. We finally brought him to an asthma and allergy specialist who says he has no allergys but he does have asthma. She prescribed pulmicort 2xs per day and albuterol as needed, nasonex 1x per day. She also did chest x-rays, blood work, and a sweat test for cf. I know nothing about cf...I have been trying to read on it but they did one sweat test and said that they had to do another on the same day. My dr says I have to wait 3 days for testing and I am going crazy. I am so worried. Can anyone help and give me some hope about cf and what is this all about and like I said I don't know about cf but I think of someone really sick and well my son is sick often but I wouldn't think enough I don't know I am just scared and confused and thought I could find some help here! Thanks.

 

[Shavon]

Hi, I am also like Jenny. I am new to this. My son Garrett is 5 and ever since he was 6 months old he has been sick. He was hospitalized with severe phnemonia and rsv at least 3-4 times. Once he turned 2 years old he sort of grew out of it beside the allergys and sinus infections and ear infections but now with antibotics he is able to fight these infections and before a common ear infection could send him to the hospital. When he was 2 years old they diagnosed him with IgA defiency but my dr felt he was doing better and could possibly not have the immunegloblin theropy. So far he is doing well except for this constant cough at night that sometimes makes him vomit. We finally brought him to an asthma and allergy specialist who says he has no allergys but he does have asthma. She prescribed pulmicort 2xs per day and albuterol as needed, nasonex 1x per day. She also did chest x-rays, blood work, and a sweat test for cf. I know nothing about cf...I have been trying to read on it but they did one sweat test and said that they had to do another on the same day. My dr says I have to wait 3 days for testing and I am going crazy. I am so worried. Can anyone help and give me some hope about cf and what is this all about and like I said I don't know about cf but I think of someone really sick and well my son is sick often but I wouldn't think enough I don't know I am just scared and confused and thought I could find some help here! Thanks.

 

[anonymous]

I was just reading your post and it sounds very much like my son... I have a almost 4 year old who has asthma that does not respond to the medications and has not since he was 2. He is on the 50th percentile for height but has taken a dramatic drop in weight on the percentile chart... he was 37 lbs 7 months ago but was recently weighed and lost 6 lbs... he is now 32 lbs. He has a lot of other symptoms but has come back with a negative sweat test--- 45 and 46 which is borderline but he still isn't growing. He has a chronic cough which I will jokingly refer to as "coughing his lung out..." He will clear his throat every 2 minutes and if it is really bad he will gag himself on it. He doesn't seem to have any of the gastric symptoms except for the diarrhea... he will not go for a week at a time and then he will have 5 BM's in a day that are all diarrhea type and loaded with mucous. He was born 5 weeks early and gained wight nicely until he was just over a year old and then he stopped gaining weight so well... he didn't grow even a single inch in over a year. He does not have nasal polyps but does have a lot of upper respiratory problems including constant snorting and blowing. I have a best friend who has a little girl with CF and she says that all of his symptoms are very typical of CF with the exception of the negative sweat test. The ENTS has told me that he is completely normal from an ENTS perspective but the chest xrays show muscle wall thickening in the bronchiole walls of the upper lobes of the lungs. He has had repeated chest infections and croup since the age of about 6 weeks and when he caught a cold it would take months to go away with only a few days break before the next infection took hold. I just don't know what to do anymore and he is really worrying me with not gaining weight like he should. I have 4 kids and 3 of them are growing normally and gaining weight like they should... he doesn't. Can someone please tell me what they think?<img src="i/expressions/brokenheart.gif" border="0">

 

[anonymous]

I was just reading your post and it sounds very much like my son... I have a almost 4 year old who has asthma that does not respond to the medications and has not since he was 2. He is on the 50th percentile for height but has taken a dramatic drop in weight on the percentile chart... he was 37 lbs 7 months ago but was recently weighed and lost 6 lbs... he is now 32 lbs. He has a lot of other symptoms but has come back with a negative sweat test--- 45 and 46 which is borderline but he still isn't growing. He has a chronic cough which I will jokingly refer to as "coughing his lung out..." He will clear his throat every 2 minutes and if it is really bad he will gag himself on it. He doesn't seem to have any of the gastric symptoms except for the diarrhea... he will not go for a week at a time and then he will have 5 BM's in a day that are all diarrhea type and loaded with mucous. He was born 5 weeks early and gained wight nicely until he was just over a year old and then he stopped gaining weight so well... he didn't grow even a single inch in over a year. He does not have nasal polyps but does have a lot of upper respiratory problems including constant snorting and blowing. I have a best friend who has a little girl with CF and she says that all of his symptoms are very typical of CF with the exception of the negative sweat test. The ENTS has told me that he is completely normal from an ENTS perspective but the chest xrays show muscle wall thickening in the bronchiole walls of the upper lobes of the lungs. He has had repeated chest infections and croup since the age of about 6 weeks and when he caught a cold it would take months to go away with only a few days break before the next infection took hold. I just don't know what to do anymore and he is really worrying me with not gaining weight like he should. I have 4 kids and 3 of them are growing normally and gaining weight like they should... he doesn't. Can someone please tell me what they think?<img src="i/expressions/brokenheart.gif" border="0">

 

[anonymous]

To the previous poster, I would have him tested genetically ASAP - sounds like he most all of the symptoms and is 45 & 46 considered NO CF? I thought that was in the borderline range and that below 30 was considered normal... The GI trouble he is having is very much what kids wcf that need enzymes would have if they aren't getting them.

Just an FYI - the sweat test is considered 85% accurrate and the blood tests are considered 95% in general (although some are more accurate than others bc different ones check for more mutations than others).

I would push for a more accurate diagnosis for him bc it would be terrible for him to be suffering from CF and not getting treated bc the doctors are happy with the 85% accuracy. I would only be happy with 100% accuracy (or as close to it as possible).

*Quest* has been mentioned all over these boards lately. They have a genetic test that they consider 99% accurate (which is by far the highest rate of all of the genetic tests out there).

Best Wishes on getting him taken care of!

 

[anonymous]

To the previous poster, I would have him tested genetically ASAP - sounds like he most all of the symptoms and is 45 & 46 considered NO CF? I thought that was in the borderline range and that below 30 was considered normal... The GI trouble he is having is very much what kids wcf that need enzymes would have if they aren't getting them.

Just an FYI - the sweat test is considered 85% accurrate and the blood tests are considered 95% in general (although some are more accurate than others bc different ones check for more mutations than others).

I would push for a more accurate diagnosis for him bc it would be terrible for him to be suffering from CF and not getting treated bc the doctors are happy with the 85% accuracy. I would only be happy with 100% accuracy (or as close to it as possible).

*Quest* has been mentioned all over these boards lately. They have a genetic test that they consider 99% accurate (which is by far the highest rate of all of the genetic tests out there).

Best Wishes on getting him taken care of!

 

[Alyssa]

I second the last post -- to the mother of the 4 year old -- a sweat test of 45 with all those "classic" CF symptoms should NOT be considered negative. 40-60 is borderline my daughter is proof that you can even go below 40 and yet still have two CF genes. Get the blood test done. My daughters sweat test is 38 & my sons is 41 -- genetic testing shows two known CF gene mutations in both kids. I believe your sons health would improve if they would give him the treatments that other CF patients get. (chest therapy, pulmozyme, enzymes if necessary etc) I would also recommend getting to a CF clinic for evaluation.

To the originial poster on this thread -- you said you had an appointment on Thursday -- what did you find out?????

 

[Alyssa]

I second the last post -- to the mother of the 4 year old -- a sweat test of 45 with all those "classic" CF symptoms should NOT be considered negative. 40-60 is borderline my daughter is proof that you can even go below 40 and yet still have two CF genes. Get the blood test done. My daughters sweat test is 38 & my sons is 41 -- genetic testing shows two known CF gene mutations in both kids. I believe your sons health would improve if they would give him the treatments that other CF patients get. (chest therapy, pulmozyme, enzymes if necessary etc) I would also recommend getting to a CF clinic for evaluation.

To the originial poster on this thread -- you said you had an appointment on Thursday -- what did you find out?????

 

[anonymous]

Ok, we went Thursday and found out some information. The doctor feels that my son is in a grey area--he doesn't know for sure if he does or doesnt have CF. The doctor said until we know 99% sure that he doesnt then we are going to be treated as if he has it. They did a more extensive blood panel (tests about 900 mutations) and did a complete blood workup to check and see if anything was going on in his body. Also they are going to do a CT of his lungs to get more details since his x-rays look ok. They did a sputum collection--I am still trying to find out what this was for.
I feel so much better being at the CF clinic and talking to the right people. They had a phsycologist (sp?) and a respitory therapist come talk to us. They made us feel so welcome and comfortable and said that once we get a final diagnosis that they will tend to his care and moniter him. I hope and pray that my son doesn't have CF, but if he does I am VERY comfortable with who we are seeing. Once we find out more information, I will update.

Jenny

 

[anonymous]

Ok, we went Thursday and found out some information. The doctor feels that my son is in a grey area--he doesn't know for sure if he does or doesnt have CF. The doctor said until we know 99% sure that he doesnt then we are going to be treated as if he has it. They did a more extensive blood panel (tests about 900 mutations) and did a complete blood workup to check and see if anything was going on in his body. Also they are going to do a CT of his lungs to get more details since his x-rays look ok. They did a sputum collection--I am still trying to find out what this was for.
I feel so much better being at the CF clinic and talking to the right people. They had a phsycologist (sp?) and a respitory therapist come talk to us. They made us feel so welcome and comfortable and said that once we get a final diagnosis that they will tend to his care and moniter him. I hope and pray that my son doesn't have CF, but if he does I am VERY comfortable with who we are seeing. Once we find out more information, I will update.

Jenny

 

[JazzysMom]

Jenny the sputum culture is to look for the certain bacterias that CFers are prone to. Although their are other people with compromised immune systems that can culture them it is another facter that would direct them towards a CF dx.

 

[JazzysMom]

Jenny the sputum culture is to look for the certain bacterias that CFers are prone to. Although their are other people with compromised immune systems that can culture them it is another facter that would direct them towards a CF dx.

 

[Alyssa]

Jenny,

Thanks for the update.

Glad to hear you were treated well by the CF clinic and you are comfortable with the people.

Yes, it is common to talk to all the different people on the CF team during a visit (at least for us) Some visits we only see the nurse and doctor but on our first few visits we also saw the social worker, genetic counselor , respiratory therapist, and nutritionist. I felt like they really were giving us the royal treatment.

Oh, and yes, like Melissa said the sputum sample is to see what "bugs" are growing in the lungs -- something else that is a very common thing to do at each check up. It usually takes 5-7 days for our clinic to get the results back. They don't ship it out to another lab but they have to let things grow for that long before they can tell you what is there. If they see one of the "usual" bugs for a person with CF, he would probably be given oral antibiotics or possibly an inhailed antibiotic (TOBI)

 

[Alyssa]

Jenny,

Thanks for the update.

Glad to hear you were treated well by the CF clinic and you are comfortable with the people.

Yes, it is common to talk to all the different people on the CF team during a visit (at least for us) Some visits we only see the nurse and doctor but on our first few visits we also saw the social worker, genetic counselor , respiratory therapist, and nutritionist. I felt like they really were giving us the royal treatment.

Oh, and yes, like Melissa said the sputum sample is to see what "bugs" are growing in the lungs -- something else that is a very common thing to do at each check up. It usually takes 5-7 days for our clinic to get the results back. They don't ship it out to another lab but they have to let things grow for that long before they can tell you what is there. If they see one of the "usual" bugs for a person with CF, he would probably be given oral antibiotics or possibly an inhailed antibiotic (TOBI)