What to do

S

syddesi2

New member
I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was normal (low) - they ruled out CF and further tested for a TE Fistula and other things - found nothing - dx'd him with severe asthma. For years he has suffered with breathing issues from excessive thick mucus. He had tubes put in his ears, adnoids out - allergy tests - nothing.

Pulmo wanted another sweat test - came out neg again. She did bronchoscopy and was convinced after seeing the mucus thart it was CF. She did the Genzyme genetic test - came back normal. It says Poly T 7T/7T - then has 3 benign variants; 125G>C, 2694T>G and 4521G>A - says no mutations found.

Did cilia biopsy and another check for TE Fistula. CT Scan showed enlarged lymph nodes in the lungs and pan sinusitis.

So we just quit doctors - treat with nebulizer and antibiotics as needed. His breathing has been bad recently so we went to doctor - PFT was terrible - did it twice and at best after treatment he is just under borderline.

So NOW she put him on Pulmozyme and the vest and is sending him to CF clinic because she wants further tests done????? What else is there????
My son is very barrel chested, his finger tips are bulbous and kid always sounds like he has bronchitis - even when there is no mucus his PFT shows obstruction. Is there something else that makes thick mucus like this?

Thank you
Amy
What else could
 
S

syddesi2

New member
I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was normal (low) - they ruled out CF and further tested for a TE Fistula and other things - found nothing - dx'd him with severe asthma. For years he has suffered with breathing issues from excessive thick mucus. He had tubes put in his ears, adnoids out - allergy tests - nothing.

Pulmo wanted another sweat test - came out neg again. She did bronchoscopy and was convinced after seeing the mucus thart it was CF. She did the Genzyme genetic test - came back normal. It says Poly T 7T/7T - then has 3 benign variants; 125G>C, 2694T>G and 4521G>A - says no mutations found.

Did cilia biopsy and another check for TE Fistula. CT Scan showed enlarged lymph nodes in the lungs and pan sinusitis.

So we just quit doctors - treat with nebulizer and antibiotics as needed. His breathing has been bad recently so we went to doctor - PFT was terrible - did it twice and at best after treatment he is just under borderline.

So NOW she put him on Pulmozyme and the vest and is sending him to CF clinic because she wants further tests done????? What else is there????
My son is very barrel chested, his finger tips are bulbous and kid always sounds like he has bronchitis - even when there is no mucus his PFT shows obstruction. Is there something else that makes thick mucus like this?

Thank you
Amy
What else could
 
S

syddesi2

New member
I have been on this group before - probably two years ago. My son is 7 years old. It started just after birth - diff breathing - hospitals, nebulizers, prednisone....severe asthma - blah blah blah - He had so much mucus that he could hardly eat. At 6 months they did a sweat test and it was normal (low) - they ruled out CF and further tested for a TE Fistula and other things - found nothing - dx'd him with severe asthma. For years he has suffered with breathing issues from excessive thick mucus. He had tubes put in his ears, adnoids out - allergy tests - nothing.
<br />
<br />Pulmo wanted another sweat test - came out neg again. She did bronchoscopy and was convinced after seeing the mucus thart it was CF. She did the Genzyme genetic test - came back normal. It says Poly T 7T/7T - then has 3 benign variants; 125G>C, 2694T>G and 4521G>A - says no mutations found.
<br />
<br />Did cilia biopsy and another check for TE Fistula. CT Scan showed enlarged lymph nodes in the lungs and pan sinusitis.
<br />
<br />So we just quit doctors - treat with nebulizer and antibiotics as needed. His breathing has been bad recently so we went to doctor - PFT was terrible - did it twice and at best after treatment he is just under borderline.
<br />
<br />So NOW she put him on Pulmozyme and the vest and is sending him to CF clinic because she wants further tests done????? What else is there????
<br />My son is very barrel chested, his finger tips are bulbous and kid always sounds like he has bronchitis - even when there is no mucus his PFT shows obstruction. Is there something else that makes thick mucus like this?
<br />
<br />Thank you
<br />Amy
<br />What else could
 
P

posoutlook

New member
I am sorry to hear what you are going through. My son is 9 and just diagnosed at 8 by sweat tests. We dealt with ENT division at Children's Hospital for 8 years before referred for a sweat test. His symptoms were ear glue, tubes, sinus infections, tonsillectomy, adnoidectomy and sinus cysts.
His genetic testing also came back all unidentified mutations. We are still in the process of testing. All I can suggest is what was suggested to us. I don't know where you live but we were referred to John Hopkins in Maryland. The do a nasal testing for CF from what my clinic tell me they are only one of 2 hospitals qualified to do this test in childrens.

Hope you find some answers.

Also my son has started to vest 6 months ago and it has made a significant differece in his symtoms.

Leanne
 
P

posoutlook

New member
I am sorry to hear what you are going through. My son is 9 and just diagnosed at 8 by sweat tests. We dealt with ENT division at Children's Hospital for 8 years before referred for a sweat test. His symptoms were ear glue, tubes, sinus infections, tonsillectomy, adnoidectomy and sinus cysts.
His genetic testing also came back all unidentified mutations. We are still in the process of testing. All I can suggest is what was suggested to us. I don't know where you live but we were referred to John Hopkins in Maryland. The do a nasal testing for CF from what my clinic tell me they are only one of 2 hospitals qualified to do this test in childrens.

Hope you find some answers.

Also my son has started to vest 6 months ago and it has made a significant differece in his symtoms.

Leanne
 
P

posoutlook

New member
I am sorry to hear what you are going through. My son is 9 and just diagnosed at 8 by sweat tests. We dealt with ENT division at Children's Hospital for 8 years before referred for a sweat test. His symptoms were ear glue, tubes, sinus infections, tonsillectomy, adnoidectomy and sinus cysts.
<br />His genetic testing also came back all unidentified mutations. We are still in the process of testing. All I can suggest is what was suggested to us. I don't know where you live but we were referred to John Hopkins in Maryland. The do a nasal testing for CF from what my clinic tell me they are only one of 2 hospitals qualified to do this test in childrens.
<br />
<br />Hope you find some answers.
<br />
<br />Also my son has started to vest 6 months ago and it has made a significant differece in his symtoms.
<br />
<br />Leanne
 
R

Ratatosk

Administrator
Staff member
Amy, based on your son's symptoms, IMO it's great that they're starting treatment with the vest and pulmozyme. CF or not, it sounds like they're being proactive in treating his symptoms -- infections, respiratory issues, finger clubbing.... I hope you have some answers soon.
 
R

Ratatosk

Administrator
Staff member
Amy, based on your son's symptoms, IMO it's great that they're starting treatment with the vest and pulmozyme. CF or not, it sounds like they're being proactive in treating his symptoms -- infections, respiratory issues, finger clubbing.... I hope you have some answers soon.
 
R

Ratatosk

Administrator
Staff member
Amy, based on your son's symptoms, IMO it's great that they're starting treatment with the vest and pulmozyme. CF or not, it sounds like they're being proactive in treating his symptoms -- infections, respiratory issues, finger clubbing.... I hope you have some answers soon.
 
K

kaylee04cassidy08

Guest
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
">http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
</a>
Check out the above website. It describes a disease that is often mistaken for CF because of the similar symptoms, however sweat chloride is normal. Just an idea.
 
K

kaylee04cassidy08

Guest
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
">http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
</a>
Check out the above website. It describes a disease that is often mistaken for CF because of the similar symptoms, however sweat chloride is normal. Just an idea.
 
K

kaylee04cassidy08

Guest
<a target=_blank class=ftalternatingbarlinklarge href="http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
">http://www.pcdfoundation.org/aboutpcd/whatispcd.htm
</a><br />
<br />Check out the above website. It describes a disease that is often mistaken for CF because of the similar symptoms, however sweat chloride is normal. Just an idea.
 
S

syddesi2

New member
Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
 
S

syddesi2

New member
Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
 
S

syddesi2

New member
Thank you - Jack was tested for PCD - he had a nasal and tracheal brush done and the cilia came back as normal functioning.
 
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