mama - possible CF - Question

[Justinsmama]

Hi,

My 9 year old son is diagnosed with CF. I have an 11 year old that is just a carrier (several poly's but still carrier). Here is where my question comes in to those that were diagnosed as adults. I believe even a few were diagnosed after their children. I have had a cough for almost 2 years. I was sent to an allergy/asthma specialist for what we thought was asthma. He thinks I have a problem, maybe CF or maybe some enzyme deficiency (Can't remember the name). I am 42 years old, 5'5", 114 pounds and active (I run 2 miles a day, several days a week). I am not and never was a smoker. He was surprised that my lung function was not better, and wants me to see the local CF clinic for evaluation. I had pneumonia only as a child. My plum function is as follows:

Pre Post
FVC 76% 78%
FEV1 62% 66%
FEV1/FVC 81% 83%
25/75 41% 43%

I also had a chest x-ray that was completely normal. I am not sure what is causing the low numbers but normal chest x-ray. Does this sound like it could be CF? I am short of breath on exertion and cough quite a bit. Any thoughts/experiences will be greatly appreciated.

Thank you!!

 

[Melissa75]

I think it makes a lot of sense for you to get checked out for CF and for the whole range of lung diseases.

The deficiency your doctor mentioned is most likely alpha-1 anti-trypsin deficiency. It causes premature emphysema in people who've never smoked. Your PFTs aren't indicative of emphysema as far as my non-medical-professional eye can tell -- that would be a low FEV1/FVC ratio (under 70%). But A1AD is being increasingly linked to other lung diseases, including bronchiectasis.

Your improvement after a bronchodilator was minimal, so I agree that moving beyond the asthma theory is a good idea. It IS possible you are lower than the normal 80-120% range, but still somehow normal. However, given that you exercise and have a child with CF, it also makes complete sense to to get all the testing done: sweat, Ambry, CT scan, sputum, A1AD bloodwork and genetics.

Oddly, I'm literally the same size as you and basically the same age (39), but different in that I've lower respiratory exacerbations several times a year, rarely sound clear and my FEV1 is usually over 100%.

 

[Printer]

A CF lung is a "landmine" for a Radiologist not trained in CF. So you could have an improper reading. You are a CF Carrier and your FEV1 is 66% of a "normal" person of your gender, weight and size.

YES!!! It is POSSIBLE that you have CF.

Good luck,
Bill

 

[welshwitch]

Definitely possible! I hope you find some answers soon! Please let us know once you find out! If you do have CF, you have a lot of support here!

 

[Justinsmama]

Thank you for the input and support. I am afraid of having problems myself and having to take care of Justin. I see the adult CF center in two weeks. hope to feel better soon.

 

[welshwitch]

And as a side note, we have people on this forum who were diagnosed in their 50's, 60's, and 70's! CF is a spectrum -- it expresses itself differently in many people -- if you do indeed get diagnosed I guarantee you will start feeling better with proper treatment!

 

[peter]

Hard to imagine persistent shortness of breath without low Po2 levels. My doctoring is in NYC Cornell. My ENT told me recent research may reveal "cf genes" in a lot more people than the healthcare field would expect. He even thinks my chronic respiratory may be CF related. There is some x-Ray sclerosing in my lungs. I'm 70, and "we" are considering a gene assessment for me. I would think your doctor can justify medical necessity for gene testing for you. Lots of researchers are building on pulmonary research findings (digging deeper) so knowing if you have CF genes may also make you eligible for helping to improve the data base of pulmonary investigations. That may soon include me too. Good luck with your work up(s).

 

[Printer]

Peter:

As much as Cornell is a great hospital, I don't believe that it is an APPROVED CYSTIC FIBROSIS CLINIC. Based upon my history, I would strongly suggest that you ADD an approved CF Center to your medical care at Cornell.

Bill

 

[sanfloraine]

My son has potentially/probably CF.

As for me I have suffered breathing problems since age 17. Lots of stuff will irritate my lungs: pollution, chemicals, perfumes, cigarette smoke. My lungs at some point had scars. And Albuterol does not work on me, only Prednisone will help. I had to quit my old job because of my breathing problems. I tend to think I could be a CF carrier, not CF per say as I have no digestive issues. My chest X-rays when I am sick always show inflated lungs... not sure what that means! My mom has similar lung problems and no digestive issues.

Good luck, get the genetic test if you can!

 

[Justinsmama]

Hi. Had my CF appointment last Friday. I go this Tues for testing: high def CT, sweat, and breathing tests. Also full sequencing and 18 blood tests. Very thorough. Hope to have some answers. She thinks it could be CF but wants to rule out auto-immune problems. She also thinks my older son may be (F1052V and M470 poly as well as several other polys) CF because of history and culturing staph. Justin was in that boat until his second mutation was upgraded. I feel very overwhelmed but hope to know more soon.

 

[Justinsmama]

I had my PFT's done today, along with a CT scan. Waiting to reschedule the rest of tests because my son was sick today. Here they are. Any thoughts would be appreciated

FVC 85 91
FEV1 67 74
FEV1/FVC 63 65
25/75 37 43

Lung Volumes:

TLC 105
VC 90
IC 71
FRC 131
ERV 131
RV 130
RV/TLC 41
Vfr 106

Diffusing Capacity:
DLCO 82
DL Adj 82
DLCO/VA 101

Thank you in advance for any thoughts or interpretations.

 

[ladybird]

You will feel better when you have the results, so hang in there! Whatever they are, once you know at least you can get the right treatment and start to feel better.

 

[Melissa75]

The waiting game is scary, especially when you have just enough information to simmer your worries in. I get that with numbers on PFTs and radiology reports. (I should never have googled "spiculated lung nodule" after reading it on my report!)

Here is a pretty cool PDF on spirometry that might give you a better idea of what the numbers mean, but--and I'm sure you know this--your doctor is the one who has to interpret the numbers with the eyes of experience, and who sees the big picture and how the numbers relate to each other. I've had some out-there hyperinflation numbers that the doctor said not to worry about.

http://www.cme.umn.edu/prod/groups/med/@pub/@med/documents/asset/med_91472.pdf

 

[Beccamom]

I was diagnosed at 35 by genetics confirmed with sweat test and now I am 38. I was diagnosed due to my children's testing and they both have different CFTR mutations and the same dad. I feel so much better with treatment. Best wishes.

 

[Justinsmama]

Thank you everyone. I spoke with the nurse and was told that my CT scan did not show any pneumonia or scarring that was consistent with CF. It did, however, show inflammation. Does anyone have any idea what that means? The doctor is very busy and I guess not going to call me until she see all the test results.

 

[Melissa75]

Justinsmama, I'm hoping you get your answers soon.

I've been told that my "ground glass opacities" are inflammation. Of course, other markers on Ct Scan might also indicate inflammation, so this isn't necessarily what's on your scan. My inflammation is attributed to infection, but not necessarily active infection i.e. no treatment unless I am feeling bad/worse.

 

[sanfloraine]

Good luck with the wait! Your thread has really made me think about myself and CF. I am waiting to get my son's Ambry genetics test, if it does have 2 mutations then I'll look for a CF lung doctor for myself, otherwise I am too afraid they would laugh at me.