Should I ask for further testing?

[lovenenaxo]

Hello everyone.

Last month I came down with another bout of pneumonia and went to my primary doctor. I have had several unexplained and recurrent bouts of sinus infections, pneumonia and bronchitis nearly all of my life. MRI's at 9 and 18 years old showed chronic infected sinuses (they look like egg plants) .I come down with these infections regularly. My doctor ordered a CF profile which came back negative, it only tests for the 32 most common mutations. Of course because its negative she doesn't think its important now. I missed a lot of work & school because I get sick so often. I'm wondering if I should ask for further testing because its not normal for a soon to be 22 year old to have pneumonia 3-6 times a year. It feels like no doctor wants to help me but wants to say its just my allergies. Should I get a second opinion?

 

[Printer]

Another local Doctor who can't even spell CF much less diagnose or treat it. There are almost 2000 known mutations and she tested you for only 32 of them. You do the math. Further testing should be for a FULL CF SEQUENCING.

I would suggest that you go to the nearest APPROVED CYSTIC FIBROSIS CLINIC and be seen by a CYSTIC FIBROSIS SPECIALIST. Tell your Doctor that there almost 2000 known mutations and any two will cause CF. It is not good that she remains ignorant of this disease.

Bill

 

[Printer]

Your nearest CF Center is:

John Hopkins Adult Cystic Fibrosis Clinic
Baltimore MD
410-502-7044
Michael P. Boyle, MD, Director

Good luck,
Bill

 

[MichaelL]

It sounds like you're having respirology symptoms, but not GI symptoms. If you do have CF, you likely have a less common mutation further supporting the argument that testing the most common mutations is not sufficient. I would ask for a full DNA test.

 

[Melissa75]

conditions and tests

Some things that cause repeated pneumonia and sinusitis are:

Cystic Fibrosis

Non-CF bronchiectasis (bronchiectasis is damage to the lungs that traps mucus and causes repeated infections. People with CF develop it quite early in life. People without CF sometimes develop it too. For the latter, it can be caused by the other conditions on this list and some that are not, or a past infection that wasn't treated well.)

primary ciliary dyskinesia (cilia that don't sweep properly)

allergies/asthma (constant inflammation that is a breeding ground for infections)

primary immunodeficiency (not enough antibodies to clear infections)



In order to determine if you have any of these things, you can have the following tests:

CT scan to evaluate your lungs, particularly for bronchiectasis (CF and non-CF bronchiectasis both need a regimen of mucus clearance to reduce the infection rate and slow the progress of additional lung damage.)

sweat test (CF)

more comprehensive genetic testing (CF)

sputum testing (to see if your infections are caused by the red-flag CF bacteria, and even if not, to know what antibiotics to treat you with and to avoid antibiotic resistance.)

blood test for Aspergillus antibodies (a mold that is implicated in lung damage--bronchiectasis, and CF)

blood testing for immune deficiencies

skin RAST (allergy testing)

spirometry/pulmonary function testing (to see where you stand in overall function and whether you respond to asthma meds, please note that not all people with lung disease have low scores on this -- I have high lung function, for example, and two areas of bronchiectasis and no CF.)

electron microscopy of samples of your cilia (to look for abnormalities)

---
I'm sure this isn't an exhaustive list of all the possibilities or all the testing, but it's a start. Best wishes.

 

[lovenenaxo]

Another local Doctor who can't even spell CF much less diagnose or treat it. There are almost 2000 known mutations and she tested you for only 32 of them. You do the math. Further testing should be for a FULL CF SEQUENCING.

I would suggest that you go to the nearest APPROVED CYSTIC FIBROSIS CLINIC and be seen by a CYSTIC FIBROSIS SPECIALIST. Tell your Doctor that there almost 2000 known mutations and any two will cause CF. It is not good that she remains ignorant of this disease.

Bill

Thank you Bill. I will be contacting Hopkins & the CF clinic at Children's in Washington, DC (I'm 45 minutes away from that one) to see what the next steps will be. Im also considering changing my primary because there is a family history on my father's side and possible CF on my mother's side and Im shocked she didn't take that into consideration.

 

[lovenenaxo]

It sounds like you're having respirology symptoms, but not GI symptoms. If you do have CF, you likely have a less common mutation further supporting the argument that testing the most common mutations is not sufficient. I would ask for a full DNA test.

Thank you MichaelL. I have some GI problems GERD, Gastroparesis, IBD-D and vitamin deficiencies, but my liver & pancreas are normal.

 

[lovenenaxo]

Thank you for all the information. Immunodeficiencies were ruled out but I haven't had a complete work up yet. It seems like one negative test puts everything on the back burner.

 

[2roses]

I suggest you go to Hopkins. We go to DC Childrens and are still in their pediatric CF program. While they have a certified adult program for those over 21, I think you'd be better served at Hopkins from what I've heard.

Good luck and I hope you get some answers. Let us know how you're doing!

 

[lovenenaxo]

I suggest you go to Hopkins. We go to DC Childrens and are still in their pediatric CF program. While they have a certified adult program for those over 21, I think you'd be better served at Hopkins from what I've heard.

Good luck and I hope you get some answers. Let us know how you're doing!

Thank you. I'll keep everyone updated