Looking for answers

[Jenk9998]

Hi Everyone. A brief history. About two years ago, doctors started to realize that my daughter was "small" for her age. (She is now four). This led us to Endo and GI doctors. They ran tests and never came up with anything concrete. Then about four months ago, she started producing mucus. She would just cough up lots of mucus, she but never had any other symptoms. Her peds dr. put her on antibiotics and that did not work. This led us to a pulmonologist. The pulmonolgist looked at all her test results and whatnot and said that her pancreatic function test was normal, so the chance of CF was slim. She then put her on 28 day antibiotics and diagnosed her with chronic bronchitis. The antibiotics appeared to be working but it ultimately didn't stop the mucus. They took a sample of her mucus/spit and sent it out to be analyzed. Well, it came back with some strange results. She had a "heavy overgrowth of Pseudomonas aeruginosa." After all my research, this bacteria shows up in CF patients the most. Now her doctor is going to start her on a new antibiotics for a month that is inhaled and order genetic CF testing. I guess I am looking for any information that people can provide or any similar experiences.


Other bits of information-

- GI discovered that she had malaborption to dairy (however she has never showed any signs of being "lactose intolerant" but we switched to special milk anyways.
-My daughter has had issues with pneumonia, asthma, and RSV throughout her life. All her ailments have been lung related.
- Other than this, she is "healthy" and doesn't have other issues (except poor growth and weight).
- She does not have an autoimmune disease; that has been ruled out.
- With all of her issues, she only ran a fever one time with pneumonia so she's never fit the "mold" of being sick.
- As far as I know, no one in my family or husband's family has CF

Thanks
Jenn

 

[Ratatosk]

Unfortunately, there are a lot of us on this site who have absolutely no family history. My family & husband's family have genealogy records going back hundreds of years. I looked for early child/adult deaths and there was nothing except one stillborn uncle 75 years ago. My son was diagnosed because of a bowel obstruction caused by meconium ileus. His symptoms have primarily been digestive and sinus. His genetic testing was for 100 or so of the most common genes for CF -- there are over 2000 mutations. Usually a sweat test is done or newborn screening. Ironically, DS' sweat test was a normal 32, so fortunately for us they also did genetic tests, so we found out right away. Friend of mine's daughter with the same mutation was diagnosed at age 3, when newborn screening showed her brother had cf -- never had any symptoms except digestive, had never even had an ear infection. Another friend of mine's child, same mutation was diagnosed at 18 months after several bouts of RSV and bronchitis. The doctor did a sweat test to "rule out CF".

Push for answers. Something isn't quite right and at the very least it looks like they're aggressively treating the pseudomonas. Have they done a fecal fat test to determine if she malabsorbs fat if she has pancreatic insufficiency.

 

[Aboveallislove]

Maybe I missed it, but your daughter have a sweat test at a certified center? I'd start there while you wait the results on genetic tests.

 

[Jenk9998]

Thank you for your responses. Bree did have a sweat test at a certified center. Her sweat test number was 33. They said this is on the higher side of what they consider “normal.” She said kids that present more than one symptom (poor growth despite a healthy appetite, repeated lung infections, and then Bree has had mucus production for 4+ months) they do further testing when the number is above 30. They did said many CF patients have high numbers over 60, but she can't ignore the symptoms. Bree’s had pneumonia and RSV a handful of times and has been diagnosed with chronic bronchitis. The doctor said the infection she has now is not usually seen in people who do not have some underlying cause. They said if the genetic test comes back normal for CF, they will test her for PCD. She did have a fecal fat test (about a year ago done by GI) and it was normal. That’s why they (as in GI) “ruled out CF” until we ended up with this new, long lung infection and we were sent to a pulmonogist. She said that when the fecal fat test is normal, CF is unlikely, but still very possible. That is how we got the sweat test and whatnot. I know she was surprised that her culture came back with this bacteria. They also did some labs to see if she could fight the bacteria and the numbers were low, so they want her to get a new vaccination. It's called something like Pseudomonal 23.

 

[jricci]

Hi Jenn,
I’m sorry you’re going through this. It so hard not to have answers and to be frightened of what an answer may find. Hopefully, the genetic testing will clarify things for you. Make sure that a comprehensive genetic test was done and not one that just checked for common mutations. There has recently been an update to guidelines in diagnosing CF: those with a chloride level between 30 and 40 millimoles per liter who were previously considered unlikely to have cystic fibrosis will now be reconsidered as possibly having cystic fibrosis or a related disease. I also wanted to mention that 10-15% of CF patients do not have problems with absorbing fats, and are considered to be pancreatic sufficient. (I'm one of them- I was diagnosed at 7y/o and I'm now 45.)
Genetic testing can take a fairly long time to get results. While you wait for results, I’d consult with a CF center.
I wouldn’t allow anyone but a physician from a certified CF center manage her care. Depending on where you’re located, you might have a few centers to choose from. If you do have more than 1 center around you, I would meet with the center director from different clinics. This is just my opinion, but I would go with the center that treats her as aggressively as possible, giving her the same treatments as someone with CF, especially with her being colonized with pseudomonas.
A pseudomonas vaccine isn’t recommended for CF patients:
https://cysticfibrosisnewstoday.com...aeruginosa-still-not-recommended-cf-patients/

I hope you find some answers and she starts feeling better with the appropriate treatment. If the diagnosis does end up being cystic fibrosis, please know that this is such a promising, hopeful time for CF treatments. There are so many therapies on the horizon that hold the real potential for people with CF to live long, productive, normal lives.

I'm glad you found this site and please don't hesitate to ask any questions. We'll try our best to help.

Here's a link to help you find a CF-care-center:
https://www.cff.org/Care-Centers/Find-a-CF-Care-Center/

 

[Jenk9998]

Thank you for your response. I used the link you provided, and I was happy to know the hospital we attend and the specific doctor my daughter sees was the first place/person to pop up under my search. There are not other places in proximity. I think waiting is the hardest part. I know genetics tests take a long time.

Do children with CTRF- melabolic related syndrome have a genetic mutation too?

 

[jricci]

I wasn't sure, so I just looked it up. It's confusing because there are 2 disorders:
CFTR-related metabolic syndrome and
CFTR-related disorders

These charts explain the differences:
cntped1014_Feature1-T2.jpg

cntped1014_Feature1-T3.jpg

 

[jricci]

Sorry- those links didn't work. Here's the info:

CFTR-Related Disorders

Definition:
1 or more characteristic phenotypic features
OR
History of CF in a sibling
Plus
Detection of 0 to 1 CF-causing mutations after sequencing and deletion/duplication analysis
Plus
Intermediate sweat test (30-59 mmol/L for children>6 months of age)

Phenotypic features:
Infertility in males (CBAVD)
Chronic/recurrent sinusitis
Recurrent pancreatitis
Late development of bronchiectasis



CFTR-Related Metabolic Syndrome

Healthy,hypertrypsinogenic infants with: (this means positive newborn screening for CF - increased IRT levels)
<2 CFTR mutations and 2 intermediate sweat chloride measurements
OR
2 CFTR mutations of which no more than 1 is known to cause CF and normal sweat chloride levels

Possible effects

Airway that is positive for Pseudomonas
Development of CFTR-related disorder
Overt CF

 

[emason]

My 2.5 year old son has a CRMS diagnosis (CFTR Related Metabolic Syndrome). He has 2 mutations. Df508 which is clearly disease causing and G1069R which falls into the mutation of varying consequence category. He has low sweats but is seen at a CF clinic for monitoring. He had a bronch and infant PTS in December of 2015 (he was 17 months old) which showed moderate to severe obstructive pulmonary disease and FEV of 37% BUT they didn't see mucus plugging so are saying it could be unrelated. He has had normal fecal elastase testing but has shown that he is malabsorbing sugar (seems similar to your situation with malabsorbing dairy maybe?) he had two lung infections his first year of life, cultures staph regularly and has cultured a handful of other "common" bugs like H Flu and acinetobacter. He is currently on Symbicort daily, albuterol as needed, Flonase daily and we were supposed to be doing Zyrtec daily as well but it affected him negatively too much so we've stopped that for now. I will say that it's been very frustrating having him have so many lung related issues AND the two mutations but not clear CF symptoms so no matter how much he's having breathing issues they still think it's very possibly unrelated. So we go to clinic and treat the symptoms and just keep waiting to see if his symptoms begin to manifest more as CF or as an unrelated lung issue. I guess my point in posting is just to share that there are many people living in a grey diagnostic world with CF and you are not alone.

 

[Jenk9998]

Thank you for all your responses. I got a call today from the doctors office. My daughter's genetic test came back "good" so they are ruling out CF. They said this is good news but there are a lot of questions now. She still has the symptoms. She still has the pseudomonas infection and is on Tobi. I am discouraged that we have no clear answers.

 

[Mom2girls]

I wish you had answers. We've been in a similar boat with my 9 yr old daughter for over 2 years. We'really still looking for answers but basically treating her symptoms. Hang in there.

 

[jricci]

I’m sorry you still don’t have answers. Who ordered the genetic test- your pediatrician or the doctor at the CF clinic? I would ask for a copy of the test results. Make sure they did a comprehensive screening. Ambry is one of the labs that does the testing and their website does a good job at describing different screenings available for CF. http://www.ambrygen.com/tests/cystic-fibrosis-testing
I think Quest also does a comprehensive screening. I’d also ask your pulmonologist about testing for Primary Cilia Dyskinesia. The symptoms can be similar to CF. But as MOM2girls said, right now while you search for an answer, I'd focus on treating her symptoms aggressively.

If she doesn't clear the pseudomonas, they’ll probably keep her on Tobi every other month. I’d also ask about hypertonic saline. I’m not sure at what age they usually start that. But it’s been very effective for me at clearing secretions. For me, it been just as effective or more effective than Pulmozyme (which is very expensive and insurance probably won’t cover without a CF diagnosis- $3,000/month).
Hypertonic saline is only $60/month. The down side is that it can cause wheezing, especially when you first start. I started with 3% and then worked my way up to 7%. It still makes me wheeze though. I do Albuterol nebulizer before.
Keeping her active will also help.
Hope that helps. Hang in there!