my 15 daughter developed a nasal obstruction, had septoplasty and the doctor reported that my daughter had the worst adhesions he had ever seen. Within 2 months the adhesions were back, she developed a saddle nose, and she was snoring again. The lining of her nose is lined with sores and bleeds everyday, and she coughs all of the time. My daughter was sent to a Rhinologist who took one look at the lining, said it was allergies and she needed reconstruction. We were sent down the hall to plastics where the doctor took one look at her nose and said that he felt like she had a vasculitis called Wegeners Granulomatosis. She went through the gammit of testing and she was tested for every autoimmune disease there is. My daughter came back ANCA positive so they kept trying to get a positive nasal biopsy so we could diagnose the Wegeners. Every biopsy we have done has had staph of one kind or another so the ENT felt like she had an infection, she went on antibiotic after antibiotic to "reset" her immune system. We went to Mayo to the Pediatric rheumatologist and the Pediatric ENT and they were convinced that we were on the right track and that we just had to get a nasal biopsy that showed vasculitis to prove she has Wegeners. The nasal biopsies showed bacteria so we went on antibiotics again. She has a cough also that the doctors didn't really address trying to get the biopsy and everyone kept telling us that when the lining of the nose doesn't work the fluid has to go somewhere so she is coughing it up, but she began to cough up nasty huge bronchial casts that are all bloody. Thank God for cell phones because she has taken a picture of everything she has coughed up to show the doctors. I am a nurse and I have never seen anything like what she has coughed up. We finally sat down this week and they doctors told me that they believe that she has a ciliary problem and that she either has CF or primary ciliary dykinesia. They believe that she has a genetic variant because she has a normal sweat test and she doesn't have any difficulty with digestion. Does this sound reasonable??
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just a question
- Thread starter jennn1971
- Start date
I'm 74 with CF. My mutations are listed below. I have been diagnosed at the CF Clinics at both Massachusetts General Hospital and Boston Children's.
I have never had a positive sweat test and I didn't have digestive issues until I was in my 20's. She needs to be seen at an Approved CF Center by a CF Specialist. Being at a CF Center (Mayo) is not enough.
Bill
I have never had a positive sweat test and I didn't have digestive issues until I was in my 20's. She needs to be seen at an Approved CF Center by a CF Specialist. Being at a CF Center (Mayo) is not enough.
Bill
S
stephen
Guest
jennn1971,
I’m not suggesting that your daughter has CF, but the sweat test is not definitive.
For years my problems were attributed to Primary Ciliary Dyskinesia. This resulted from lab tests on cilia removed from my sinuses and, as with Printer, negative sweat tests. (I also have no apparent digestive issues.) It was not until I went to National Jewish in Denver that genetic testing showed that I had CF.
Genetic testing may reveal that daughter does indeed have CF mutation(s). This diagnosis can lead to the availability of drugs like Kalydeco that may really improve her condition.
I’m not suggesting that your daughter has CF, but the sweat test is not definitive.
For years my problems were attributed to Primary Ciliary Dyskinesia. This resulted from lab tests on cilia removed from my sinuses and, as with Printer, negative sweat tests. (I also have no apparent digestive issues.) It was not until I went to National Jewish in Denver that genetic testing showed that I had CF.
Genetic testing may reveal that daughter does indeed have CF mutation(s). This diagnosis can lead to the availability of drugs like Kalydeco that may really improve her condition.
Avery is at the University of Iowa which is a center and this has been a 3 year deal. We went to Mayo for a second opinion with Wegeners. She had the genetic test and the doctors said it would take a long time because they were looking for variants. Did the digestive issues get blamed on IBS?