Still no diagnosis 9 yr old

[Mom2girls]

I hope you don't mind my posting here and reading other posts without a diagnosis. My now 9 yr old daughter still has no diagnosis. We thought we were in the clear and she just had a rough couple of years after having no respiratory infections and very little cough since April and long course of antibiotics. However, since Christmas eve her wet cough is back and sounding quite nasty. She has that pale look with darkness around her eyes. Pulmonary appt was good 3 days prior to her cough returning. She had lost 4 pounds since October though. Now on cyproheptadine to help decrease Stomachaches after eating and to increase her appetite. She already had a great appetite. She has gained weight being on the med but she's eating constantly...around 2600+ calories/day.
Whole genome sequencing found nothing much...change in gene linked to pcd but not 2 genes and the 1 found was of unknown significance. Her geneticist wants it analyzed in a yr and then again in another yr etc if nothing is found. He really thinks they will eventually find something. In the meantime, we're using inhalers, nebulizer, Acapella.

 

[Gammaw]

Mom2girls - thanks for entrusting us with your story. I gather from what you're saying that your daughter is suspected of having PCD. My minimal understanding of PCD is that it is a problem with the cilia, similar to the problem experienced in cystic fibrosis. In reviewing the PCD site, I noticed that they indicate diagnosis was extremely difficult and that there are very few people diagnosed even though they suspect there's over 25,000 affected. Because of the difficulties with mucus clearance, there is a recommendation to consult the cystic fibrosis center if you cannot locate or attend one of the rare disease hospitals recommended on their site. I first wonder whether you've had an opportunity to do that and whether my thinking that you suspect PCD is appropriate http://www.pcdfoundation.org/faqs#6 My next question then would also be whether you have had your daughter seen at a cystic fibrosis center.

Blessings.

 

[fel]

I was wondering, was you daughter given a sweat chloride test at a CF-center? If so, how did it come out? My sons are diagnosed based on sweat chloride, not genetics.

 

[Mom2girls]

Yes, she had the sweat test at an accredited cf center around 2 years ago. Her sweat test was very low....normal.

 

[Ratatosk]

I'm trying to recall, what did the genetic testing results show... I thought I recalled a mutation(s).... I know there have been several people on this site who are treated as if they have cf as mutations haven't been identified yet, some diagnosed via sweat test, some thru nasal differential (?) testing... Can't recall if she's pancreatic insufficient.. enzymes... do they help. Culture/Sputum cultures....? Are they using the proper abx to treat any bugs found...

IMO, keep pushing for answers, keep up with treatments.

 

[Mom2girls]

The mutation found was related to pcd but "unknown significance". She just had lung xray and it was clear! 1st clear xray since her health became rough over 2 yes ago. Going to ent tomorrow. I'm guessing he'll get a sinus culture. Pancreatic sufficient. History of chronic constipation. Stomachache after nearly all meals unless she eats very little. Since started cyproheptadine January 1, she's put on 5 pounds. She's constantly hungry and eats like she's never eaten before. Maybe this medication won't be best for her but is has decreased Stomachache, we think.
This may be totally unrelated (and disgusting), but when she's vomited from pneumonia or a bug, the 1st 1-2 times is incredibly thick. It piles up in the bucket. Seems odd and I will mention it to GI when we see him next month.
Thanks for your continued support. We're packing up her vest tonight....fought until the end with insurance and had it for just over 1 year. We'll pay out of pocket if she starts getting sick a lot again but for now, we'll use Acapella.

 

[fel]

Sorry to keep asking questions that may have been answered with other threads, but what are her PFTs like? Do they go down when she has an infection?

To say more, both my sons were diagnosed on the basis of sweat chloride, in the absence of support genetics. They each have one CF allele (not two) and, like your daughter, one PCD gene. They are both pancreatic sufficient. One of them has severe sinus issues, and one has some GI issues (which may have been caused by prolonged exposure to antibiotics).

The dx for them was at first uncertain. However, it soon became apparent that if they did not do daily airway clearance, their PFT's plummet--one son went down 22% between visits just because he got a bit busy and stopped using the acapella consistently.

If your daughter is showing dips in PFTs, I would think they would prescribe appropriate treatments even if no definitive dx of CF can be made. Can you get a CF-center doctor to see her regularly? That helped us most of all.

 

[Mom2girls]

The last couple of times she was really sick, they didn't do breathing tests b/c they said they knew they'd be low. Not nearly as low as your child's though, i'm sure. They are pretty much following cf protocol but with her test results, her pulm really doesn't believe she has cf. She's said "she doesn't have cf". I know that should be wonderful info to hear and it is, I just wish we knew what we are dealing with and what may be in her future but even with a diagnosis, nothing is certain anyway.

 

[kenna2]

Just a thought. When you see the GI have her tested for acid reflux. I wonder if this could be a factor in some of this. Mine was really bad and I have the same symptoms that she is suffering from. They had to do surgery to correct mine, but my life has been so much better since and haven't had real issues (besides constipation). There is a flap at the top of your stomach that is supposed to keep the acid out of your throat and lungs, however if it's faulty, the acid can get into your lungs and result in frequent coughing spells and irritate your lungs. I suffered from this unknowingly for 3 years and my CF doctors couldn't find anything wrong except that my lung functions kept rising and falling.

 

[Mom2girls]

Thanks for the acid reflux idea. She's actually had a scope done by GI and they found no signs of acid reflux. I was shocked b/c with her symptoms, I really thought she had it. I'll mention it again though.

 

[fel]

If it were my child I really wouldn't abide by the idea of no PFTs because "they know they'll be low". I mean when a child goes to the doctor with a fever, do they say we are not going to take the temp because we know it will be high? That is a ridiculous stance. I'd suggest going to another doctor where they will do PFTs. They need to see what her scores are when she is well (as a baseline), and then see how she is when sick. The great thing about PFTs is often the FEV1 can detect a lung infection when the individual feels fine. My sons at times will not feel sick, but nevertheless their PFTs fall because they have a (silent) infection. I myself have one CF allele, chronic sinus infections, moderate asthma and a history of frequent respiratory infections. However, with all that, when I am sick, my PFTs do not dip like my sons' scores do. So even when I get PFTs during an infection, my FEV1 doesn't go below 90%. That is why they need to do airway clearance every day, and I do not. (I do, however, have to do daily sinus rinses with pulmozyme).

I think you really need to find a great pulmonologist who will treat the symptoms and not get so hung up on is it/isn't it CF. With my children, the head doctor at the local child CF center would not at first concede they had CF. The doctor at the adult center had no problem diagnosing them both with CF. He also sees me at the clinic, even though it is clear I don't have CF. It is well worth "shopping" around for a doctor who will actually be effective.

 

[Mom2girls]

I agree 100% and I love your analogy. We weren't seeing our regular pulmonologist the days they didn't do PFTs b/c she was on leave. They worked DD in b/c she was really sick. I didn't push the tests b/c she had vomited earlier (she always does with pneumonia).