If you could go anywhere in the US for a CF evaluation where would it be?

M

momofmia

Guest
My daughter Mia is still waiting for a diagnosis. We are waiting and waiting for an appointment at Chapel Hill for a Nasal Nitrogen test, then off to CHOP or Johns Hopkins for a Nasal Potential. Chop will not do a nasal potential without a full evaluation, also they do not perform Nasal Nitrogen testing there (to rule out Primary Ciliary Dyskinesia). Should Mia have a total evaluation at Chapel Hill or should I take her to CHOP for her evaluation and just have the Nasal Nitrogen testing at Chapel Hill? I'm so confused.

Mia is m470v/m470v and 7/T 7/T.
Chronic sinus infections
Sinus surgery
Chronic ear infections (4 sets of tubes)
Coughs constantly
Bronchiectasis
On Pulmozyne and Hypersal since April 2012 after years of begging her doctors to RX it. Also on Dulera and Xopenex.
Is it CF or Primary Ciliary Dyskinesia waiting for an answer.
No antibiotics needed since starting Pulmozyne and Hypersal.

Thanks for all responses !
Lisa
 
C

Calimom

New member
I think very highly of UNC-Chapel Hill. If you can get everything done there in a relatively short amount of time, it's a great place. Good luck!
 
A

AnnSJ

New member
I've been going to Boston Children's Hospital since I was a kid and I wouldn't want to go anywhere else, they're amazing.
 
M

momofmia

Guest
Thank you!
Do yo know if Boston does Nasal Potential Difference and Nasal Nitrogen testing?
 
A

AnnSJ

New member
I know CHB does the Nasal Potential Difference since I've had it done too, but I'm not sure about the nitrogen testing. I'd be surprised if they didn't, though. If you wanted you could call the nursing line in Pulmonary and ask them to get back to you with more information.
 
S

stephen

Guest
National Jewish in Denver CO!

They are consistently rated the top pulmonary center in the country.

They have an outpatient program where over the course of from a few days to 2 weeks you will get a full evaluation by a medical team, including all tests they deem appropriate.

As I have said on this site before, I traveled from New York to National Jewish in 2005 for an evaluation. It was one of the best trips I’ve ever taken!

Stephen
70 Y/O with CF (G542X, D1152H) and Bronchiectasis
 
M

momofmia

Guest
Thank you all for your responses to my question.
With Much Appreciation,
Lisa
 
D

dixonthedogg

Guest
Hi Everyone,

I'm brand new here. But, I've been a long-time lurker. I know this is an older post, but I wanted to see if anyone has been to the UNC PCD Diagnostic Clinic. My daughter, age 7, has been diagnosed with variant CF and PCD. She's had the Ambry test done, which showed no mutations but the 7t/7t (which I hear is not disease causing?). But, her symptoms closely mirror those of CF. She's had two negative sweat tests and has consistently tested negative to her throat swabs. She coughs incessantly, spits up frequently, is very small/tiny (3% on growth charts on a good visit), frequent pneumonia, three sets of ear tubes, almost monthly URI, etc. She does her vest/nebs twice daily and is on Pulmicort/Albuterol/Hyper-Sal. She is followed by a pulmo at children's DC (CF center)every three months.

We have had other doctors evaluate her and they would not confirm/deny her dx. I love her doctor, but we are interested in a second opinion. We are trying to get her into UNC, but it seems like you have to have some sort of prelimiary proof to get an appointment there. I have ciliary biopsy results that her cilia "dance" instead of "wave." So far her GI issues are manageable, but we have discussed enzymes at some point in the future. She takes miralax some times to help out.

Has anyone gone to UNC for eval/second opinion? Are there other options to have an "all-in-one" evaluation at another location. We are in DC and would travel just about anywhere to solve this mystery.

Thanks so much for all your advice. I've learned so much on this site. I've been lurking for a long time!
 
D

dixonthedogg

Guest
Bump...anyone have any other suggestions? We FINALLY got an appointment with UNC and will be going down next month for a full evaluation. They said everything will be done in a four hour period. Has anyone done this? What can we expect?

Thanks for any insight!
 
B

Beccamom

New member
If you are looking at CF and PCD do NOT go to CHOP. We did a biopsy at CHOP which was sent to St Cbristopher's for there electron microscope and the UNC said biopsy slides too blurry to make a determination from. Go to a hospital that is part of the mucus clearance consortium. UNC and Denver Children's are part of this as well as other hospitals.
 
B

Beccamom

New member
We also did the NPD test twice at CHOP this is a research test because it is soooo imprecise. The furst testbdiagnosed my daughter with CF then I was told it may be wrong because she got thebflu weeks later then she was yndiagbosed with CF. With CF treatment my daughter's lung function went up from 50 to holding in the 90s percent for FEV1. She cultures CF bugs and I genetically have and am treatwd for CF. NPD is a waste of time.
 
D

dixonthedogg

Guest
Thank you for all the feedback! I really appreciate all your comments/suggestions!
 
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