momma's intuition

kyelizabeth

New member
hi all!

i'm sure you have a lot of concerned momma's on here asking questions about their babies symptoms. sorry to be another one, but i need some feedback...

my son is 20 months old and has had recurrent bouts of wheezing and coughing since the age of 5 months. we have had 2 ER visits and 1 hospital stay (for the flu) last february. at that time a chest x-ray was performed which was read as "bronchiectasis". a follow up scan over a month later once he had recovered from the flu was unchanged. i am a physician assistant and know that bronchiectasis is not a normal or incidental finding. based off of my own research, it seems as though the most common cause of bronchiectasis in a kiddo is cf. anyone have any experience with this in your little one?

aside from the abnormal chest x-ray, wheezing, and cough, my little guy has a constant runny nose...always thick and yellow-green. initially, i chalked it up to allergies, but he's been on zyrtec daily for awhile now with no significant improvement. we just moved to a new city and i finally forced a referral to a well-respected pedi pulmonology group, but our appt isn't until next month. my gut tells me cf should be on my radar and this is more than just asthma/allergies. i've been so focused on the breathing issues for so long that i just overlooked the frequent bowel movements, but he definitely has had frequent, foul stools since the early months.

as a health care provider, it's easy to get in the "hypochondriac mode"...especially with our kids. but, this time i just feel like something is not right. the pedi tried to tell me it was b/c my son goes to daycare. my daughter who is now 5 and also went to daycare never had any of these issues. that's not it. i would just appreciate any encouragement or feedback you can offer as this is all new territory to me.

thanks in advance from this worried mama!
 

Aboveallislove

Super Moderator
Dear Mom,
I am so sorry for your worry. I think from what you wrote it makes sense to have CF on the radar. I also think a lot of doctors think that a baby with CF would not be thriving or have more problems so they might not immediately test for it. You didn't say if the pulmonogist is at an accredited CF Center? There are a few in Texas. Check the cff.org webpage. If he isn't, I'd go to a CF Center first. I'd probably also call your ped and ask if he can refer you to a CF Center for a sweat test, which is what they do first for CF testing (and then a full gene sequencing is also necessary to rule CF in or out). A couple of things you can also do that might give you some "hints" of what's going on: During the next bath watch your son's hands to see how quickly they wrinkle. With CF they wrinkle a lot and faster--like 3 minutes. Whereas others it's about 10 (carriers--those with one CF gene, it's like 7). This isn't definitive because not all CFers have aquagenetic wrinkling, but many do. Our son's is so bad that his hands are prunes in about 30 seconds of submerging and he keeps his hands on the side of the tub for bath's because if they are in the hands more than a couple of minutes they hurt horribly. The other is to put her stool in the toilet and see if it floats. If so, she isn't absorbing the fat which is another telltale sign of CF. Again, not dispositive, because some mutations don't make CFers pancreatic insufficient which is what causes that. Finally, give him a good old lick and compare it to his sister. Try after "running" on the back of the neck. CFers sweat a lot of salt (which is what the sweat test tests). Those are a few things I would do to kinda give me some hints while suffering through the wait.

Finally, I'd say that if he does have CF, he'll do so much better with the treatments! And there are so many new medicines out there that will really make a difference and getting really close to a real treatment and cure that this disease is much different today than even five years ago! And if it isn't CF, hopefully the pulmonologist can figure out what's going on.
Take care,
Hugs and Prayers
 

Beccamom

New member
I would make sure thenpulminologistnisnlistednon the www.cff.org list. If the doctor is at a Cystic Fibrosis Foundation Accredited hospital still ask what percent of the doctor's patients have CF.

i would ask for your newborn screening data if it was done in a state that screens for CF. also ask your pediatrician for a sweat test so you have that result before going to the pulminologist. If you get an intermediate or positive sweat test ask then pediatrician for Ambry Genetics testing including deletions and duplications since that is the most thorough test. Also look into PCD primary Ciliary Dyskinesia if CF is negative.
 

kyelizabeth

New member
Dear Mom,
I am so sorry for your worry. I think from what you wrote it makes sense to have CF on the radar. I also think a lot of doctors think that a baby with CF would not be thriving or have more problems so they might not immediately test for it. You didn't say if the pulmonogist is at an accredited CF Center? There are a few in Texas. Check the cff.org webpage. If he isn't, I'd go to a CF Center first. I'd probably also call your ped and ask if he can refer you to a CF Center for a sweat test, which is what they do first for CF testing (and then a full gene sequencing is also necessary to rule CF in or out). A couple of things you can also do that might give you some "hints" of what's going on: During the next bath watch your son's hands to see how quickly they wrinkle. With CF they wrinkle a lot and faster--like 3 minutes. Whereas others it's about 10 (carriers--those with one CF gene, it's like 7). This isn't definitive because not all CFers have aquagenetic wrinkling, but many do. Our son's is so bad that his hands are prunes in about 30 seconds of submerging and he keeps his hands on the side of the tub for bath's because if they are in the hands more than a couple of minutes they hurt horribly. The other is to put her stool in the toilet and see if it floats. If so, she isn't absorbing the fat which is another telltale sign of CF. Again, not dispositive, because some mutations don't make CFers pancreatic insufficient which is what causes that. Finally, give him a good old lick and compare it to his sister. Try after "running" on the back of the neck. CFers sweat a lot of salt (which is what the sweat test tests). Those are a few things I would do to kinda give me some hints while suffering through the wait.

Finally, I'd say that if he does have CF, he'll do so much better with the treatments! And there are so many new medicines out there that will really make a difference and getting really close to a real treatment and cure that this disease is much different today than even five years ago! And if it isn't CF, hopefully the pulmonologist can figure out what's going on.
Take care,
Hugs and Prayers


Thank you so much for your response. The pulmonologist we are seeing is at an accredited CF center. I called and spoke to the nurse today who was kind enough to work us in for an earlier appt! I am hoping to get a sweat test before then from our pediatrician. Hopefully, we will know a little more soon.
 

Aboveallislove

Super Moderator
That's great re the Arlie's appointment, but a sweat test at pecs is worthless. They need to do at cf center. Can he refer you for the sweat test before you see pulmonology st or can they schedule both for same day at pulmonologist so you can get some good answers and not have to wait for another appointment after seeing pulmonologist?
 

Printer

Active member
ktelizabeth:

Massachusetts General Hospital is an Accredited Cystic Fibrosis Center. There are more than 2000 Doctors on staff there, only 5 are Cystic Fibrosis Specialists. It is not enough to go to an Approved CF Center, you need to see a CF Specialist.

Bill
 

kyelizabeth

New member
ktelizabeth:

Massachusetts General Hospital is an Accredited Cystic Fibrosis Center. There are more than 2000 Doctors on staff there, only 5 are Cystic Fibrosis Specialists. It is not enough to go to an Approved CF Center, you need to see a CF Specialist.

Bill

thank you, bill.

our appt is with a CF specialist. hopefully, we will find some answers.
 

humphrey711

New member
thank you, bill.

our appt is with a CF specialist. hopefully, we will find some answers.

Hi there. I just read your thread and wanted to suggest Childrens Hospital. When my daughter was diagnosed we started at Childrens and had a horrible experience. Our next stop was Mass General with Dr. Hank Dorkin. He is absolutely fantastic and so is his NP Monica. I mean FANTASTIC. He has sinced moved to Childrens and we followed. I have had nothing but positive experiences since following him. He is considered one of the best ped pulmonologists in the area and he extremely dedicated to CF care. His whole career has been focused on it.

Good luck!!
 
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