My son and my sister's diagnosis was confirmed by the sweat test. In both my sister and my son's case the first 2 genetic tests came up negative, the third test (very expensive) finally found their 2 mutations, in my son's case the third test found the second mutation as my son and sis share one mutation.
I know 50 sounds really old to be diagnosed, I understand it's becoming more common. I think that's due partially to doctors being aware that some patients don't have typical symptoms, meaning few digestive issues, and finally being able to do advanced genetic testing. Most doc's don't think to look for CF in adults.
Looking into getting a full allergy panel as I type. I eat a restricted diet, so it wouldn't be very helpful to get tested for every food on the planet, right? Can an allergy test show a histamine problem? (After I finish off some leftover lamb in the fridge I'm gonna give that anti-histamine diet a shot for a month at least and see if anything happens. It's so damn restrictive though grrrrr).
Originally Posted by Paleobird
Last question, what do you mean by a mold/fungal issue? Mold presumably being mold in a house, but fungal? If you mean some kind of gut fungus, how would one get tested for that?
I'm living in a small town at the moment, and I need to do most of the work for the docs--and they don't have time to thoroughly assess me.
I found a website for a lab that claims to offer tests for all sorts of gut pathogens, including candida, but it looks kind of sketchy. I can't find any independent verification, and the contact details are a hotmail address...
That's remarkable. Just to clarify that I have it right: the sweat test was the first test that suggested CF, and (soon after?) an expensive genetic analysis confirmed that both alleles/genes contained mutations.
Originally Posted by Urban Forager
May I ask how expensive these tests were? And based on the diagnosis, has much changed as regards treatment for your son and sister?
Unfortunately our local GP doctor did not order the sweat test first, with my son the first test was a CT scan of his sinus, which revealed extensive polyps, a red flag for CF in children. The doctor then ordered the first genetic blood test, which came up negative, a second blood test was done and then I insisted on a sweat test, which is the cheapest, I believe it was $125. That confirmed CF and then the CF doctors stepped in and ordered the final test where they found the last mutation. Once my son was diagnosed he was seen by pediatric pulmonologists who are amazing.
My son and my sister's conditions are a little different, she has more damage to her lungs due to the late diagnosis. They both do airway clearance twice a day, this involves using to a nebuliser to inhale medications that open the airways and loosen the mucus so that it can be coughed out. In addition they both have a mechanical vest that shakes them to help move the mucus from the small airways to the large airways where it can be coughed out. If they are sick they do this procedure 4 times a day.
If they get infections that can't be healed at home or if their lung capacity diminishes significantly then they go into the hospital for IV meds. My son is very healthy, he gets sick less often than some of his friends, he takes his health care very seriously, eats well, exercises and does his airway clearance regularly. He's also homeschooled so he's probably exposed to less stuff.
Sounds good. That's strange though that the doctors didn't do a sweat test first, given that it's cheaper than the blood tests. And I'm still a bit shocked that such a late diagnosis in your sister's case was possible.
Apparently in Ireland they won't do a test for any CF genes unless you have people in your family who are carriers or who have CF.
I hadn't heard of the nebuliser before. Googling it led me to find this blog on phlegm, LITTLE BLOG OF PHLEGM
I guess there's a blog for everything these days.
I also while googling found something called CFTR-related metabolic syndrome (CRMS). If I may copy and paste some of it, (sorry I don't mean to create a wall of text):
"Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing.
The term CFTR-related metabolic syndrome (CRMS) describes those infants identified by the CF
newborn screening tests who do not meet the CF Foundation guidelines for the diagnosis of CF:
These individuals may have up to 2 CFTR mutations, but at least one of those identified is
not clearly categorized as a “CF-causing mutation”
From another link:
"Your doctor may give you or your child a diagnosis of CRMS if:
The amount of salt in the sweat is higher than it is in most
people, but not high enough to confirm a diagnosis of CF. This
could mean that you or your child is at higher risk of having
problems in the airways and sinuses; the intestines and
pancreas; or the reproductive tract.
You or your child has one or two CF gene mutations that don’t
show any symptoms of CF, but could mean that you or your child
is at higher risk of having problems in the parts of the body
often affected by CF."
"Although we cannot clearly know the future health of a person
with CRMS, he or she is likely to remain healthy. Some people
with CRMS have problems in the airways or sinuses; the
intestines and pancreas; or the reproductive tract. But we don’t
know how many people with CRMS do not have these problems."
I'm info/data-dumping a little too much here, but have any of you heard of Allergic bronchopulmonary aspergillosis?
"In medicine, allergic bronchopulmonary aspergillosis (ABPA) is a condition characterised by an exaggerated response of the immune system (a hypersensitivity response) to the fungus Aspergillus (most commonly Aspergillus fumigatus). It occurs most often in patients with asthma or cystic fibrosis"
"In spite of this pronounced immune reaction, the fungus is not cleared from the airways."
Allergic bronchopulmonary aspergillosis - Wikipedia, the free encyclopedia
I didn't want to get too technical with this whole CF conversation, but my son also had ABPA. It makes life way more complicated. He can go from being very healthy, having 98% lung capacity to compromised pretty quickly. For the past 2 yrs. he's been hospitalized in September for 3 weeks each time. It is a very difficult thing to first diagnose and then treat. The treatment is antifungals and high doses of prednisone, both have horrible side effects. Pretty much anything that makes him have more mucus in his lungs, a cold, environmental factors like smoke can cause a flare up of ABPA.
I have to ask Sabre why are you reading all this stuff? Are you concerned that you may have some of these conditions? Does it feel like you have difficulty getting enough air? Because according to my son that's how he feels when he has a flare up ABPA, he gets tired really easy.
As far as the sweat test goes my sister tested borderline but because of all her symptoms they decided to do genetic testing.
With regards to my son and testing for CF my son was 6 when my sister was diagnosed. I told his doctor this and the doctor was very dismissive, he continued to prescribe allergy and asthma meds. BTW my son does not have asthma.
Yes. I supplement 6,000 IUs in the summer/fall, and 8,000 IUs in the winter/spring. I wish I had known about D3 when I was living in Scotland!
Originally Posted by Sabre
Tried any mullein?
Mullein - About.com
Mullein - DickContino.com
*Note, I have no idea who Dick Contino is, first time I ever been to his website, but the information listed in regards to mullein looks on point.
Mullein - Livestrong.com
I've worked with a few people (3) who have used this herb and it has helped them reduce phlegm and mucus production, as well as reduce asthma symptoms, despite only really using a conservative dose.
I have no direct experience with the use of this product, but it may be more appropriate in targeting the sinus. (I worked with another product in the other 3 cases).
Any time I start someone on a new supplement, I usually have the person take half the recommended dose just to see if there are possible negative reactions. If there appears to be no ill effects, the person can start to take the normal dose and work upward in correlation to the intensity of the symptoms.
@ Urban Forager (I'll stop quoting entire posts), that sounds like a complicated situation. I hope, and would bet, that over the next few years as the youth of this generation grows up there'll be amazing advances in treatment and medicine overall.
As for why I'm asking, I guess initially I was just interested to know more about it when I realised I was wrong about CF. But the more I dig in, the more I wonder if the dismissive attitude you described of your doctor is part of a larger pattern of undiagnosed mucus/sinus problems.
I know I'm not the only one with chronic sinus issues and nobody seems to know what the cause is. I wonder if a large proportion of people with these issues--including me--have a genetic susceptibility. It may be from a mutation on one of the CF genes, which the other "homozygous" gene cannot fully override, for whatever reason.
I don't particularly have a problem getting enough air--usually I can clear it out ok and breath ok, but I have to expectorate a lot, it's gross. The stuffy sinuses and phlegm issues are interfering with my life. Last year while giving work presentations it was a real pain, and it was like the straw that broke the camel's back.