pseudomonas aeruginosa infection but not CF?

[Jenk9998]

I am looking for answers...story of my life! My daughter (age 4) has a pseudomonas aeruginosa infection in her lungs and is taking inhaled antibiotics morning and night (Tobi). Before this lung infection, we have seen several doctors looking for answers for other issues. It all started because she fell off the growth chart (a little more than a year ago). We have been seen by genetics, Endo, GI, Ent, etc. One test showed she had a malabsorption to dairy, but she totally had no symptoms. Dairy didn't bother her at all; however, we switched to Lactaid stuff. None of her other tests (she's had a lot) ever really showed anything. I convinced myself she was just "small" and really stopped worrying. Then she got sick. She has always battled pneumonia prior to this (she'd get it a few times a year). All of a sudden she developed mucus that wouldn't go away. My peds dr. put her on antibiotics and it didn't touch her mucus, so she sent us to a pulmonologist. (At this point this has been ongoing for 3+ months). Now we see a pulmonologist at an accredited CF center. Her chest x-rays showed fluid in her bronchial tubes. They thought it was chronic bronchitis. They treated the chronic bronchitis (with 28 days of oral antibiotics) and it didn't go away, so they did a respiratory CF culture of her mucus. Her culture came back with pseudomonas aeruginosa. They also did a sweat test and it came back intermittent. Then they did the genetic test. The genetic testing found nothing. They said they are ruling out CF; however, they don't think this "nothing" because pseudomonas aeruginosa doesn't infect people who are not suffering from an underlying condition. They want her to finish her Tobi, and they are going to run more blood tests and we will go from there. I guess I am looking to see if anyone has any insight for me.

 

[Ratatosk]

Correct me if I'm wrong, but based on symptoms, I suspect genetic testing was only for the most common mutations. There are over 2000 mutations for cystic fibrosis. IMO Push for more testing! I think you're in a good place in terms of treatment with the CF specialist, so they can treat it as if it is CF until more conclusive tests are found. Have they done a fecal fat test to see if she needs enzymes?

 

[Jenk9998]

Thank you for responding. She did have the fecal fat test in June 2016 and it was fine. As of now, she is being treated as if it's CF because they are trying to get rid of the pseudomonas. I just think there are too many factors to ignore (poor weight gain despite eating a lot, intermittent sweat test, pseudomonas infection, etc.)

 

[Ratatosk]

Hopefully you'll get some answers. I know there are some people on this site who are treated as if they have cf or have gone on to get nasal differential testing to assist in a diagnosis. DS cultured pseudo early on and was put on tobi. Also, when he was symptomatic we increased chest physiotherapy (CPT) to help clear his lungs. When it was really bad -- he got an exacerbation twice (bronchitis) he was put on oral cipro.

 

[Aboveallislove]

I'm so sorry for all you are facing. I'd second Ratotsk's comment that your daughter was likely tested only for 200 gene mutations. If the test came back within 2 weeks, then i'd say that's a definite. So I'd follow up ASAP to find out how many mutations she was tested for and if not the entire 2000+ that you insist she be tested. I believe Mayo is one of the few that does that. And then in the meantime, I'd push to continue treatments after she's done with tobi. That would include doing a bronchial dialtor 2x a day (at a minimum) and a type of chest pyscio therapy.
Hugs and Prayers
Love

 

[Krysm3]

You can get pseudomonas with no underlying issues...from what I understand, it's not common, but it happens

 

[Gibson75]

I know how you feel. My boy (just turned 5) got pseudo when he was 4 and was put on Tobi. He also has not received a diagnosis but has had symptoms his entire life;
Daily cough
On and off creon - tested borderline PI
Previously iron deficient
Suffers stomach pains/nasal discharge on and off
Too many URTI - adenoids removed when he was 18mths (surgeon said at the time he was full of mucus)
He has cultured Hemophilus influenzae flue, Staphylococcus aureus twice and most recently Pseudomonas aeruginosa.
His sweat test is always negative (never higher than 20)
He has DF508 and 1716G/A (They say is not disease causing however there is literature suggesting otherwise)
He has not had the deleterious mutations testing though.

He is seen by a CF specialist twice a year as they have him in the "grey area". I totally agree with you that to culture pseudo you have to have an underlying illness and my sons doctor said that it was very rare but does happen to healthy people.

All the best for you and your daughter and my advice is to keep pushing for answers.

 

[Jenk9998]

The doctor did say this could happen. She said it was very rare for a child with a "healthy immune system" to get. However, she also has other respiratory symptoms. We see lots of different doctors (GI, Endo, genetics, etc)

 

[Jenk9998]

Gibson75-
I have been told my daughter falls in "grey area" by more than one doctor, too.

 

[jaimers]

Hopefully you'll be able to get some solid answers soon! Hsve the docs mentioned anything about CFTR related metabolic syndrome (Not full blown cf, but often can have similar symptoms) or primary ciliary dyskinesia?

CRMS
https://www.cff.org/What-is-CF/Testing/CFTR-Related-Metabolic-Syndrome-(CRMS)/

Primary ciliary dyskinesia
http://healthier.stanfordchildrens.org/en/rare-disease-day-pcd-looks-like-cystic-fibrosis-isnt/