July 18, 2012 at 7:52 am #171205428612
I forgot to answer the question about the probiotic: it’s Align. Sold everywhere. Expensive but very efficient for us. Every 3 days was the norm for me, now it’s everyday, sometimes twice a day! This has also worked well for my son who used to have terrible constipation blowouts, he now generally goes several times a day (he is 2, we give him 1/2 pill in the morning).July 16, 2012 at 10:12 pm #171205428503
Thank you all for your answers!
I am going to push myself to get a sweat test. I just discovered that my old lung doctor who treated me for years is also a director at the local adult CF clinic… she never suggested I be tested for CF. I will nevertheless make an appointment with her and go from there, hopefully she will at least agree to do a sweat test. Otherwise I will look into making a trip to National Jewish Health in Denver, thanks Stephen!
I forgot to mention: anytime I have severe shortness of breath, I also have terrible breath. Does it happen to CF people? I’d love to be tested to see if I culture any bug. And my favorite snack is salted sunflower seeds… that’s my only addiction in life: weird?
LittleLabCF: I switched from chemistry to molecular diagnostics. I have ran many PCR reactions, enough to understand the CF genetic concept… but not enough to understand everything about the various mutations and how they work.Swallowtail66MemberJuly 14, 2012 at 7:35 pm #171205428183
After the CF doc did my daughters’s family history he looked right at me and told me I would be his 6th parent that he diagnosed with CF. I was 36 years old and thought he was crazy. The first child’s full sequencing came back. Then the second child’s full sequencing came back. The sequencing was different. After grilling several times about whether the father was really the father of both children he asked me is I knew how two biological sisters could have different genetic results. I have two faulty alleles I told him. I left with enzymes in my hand and a referral to the adult clinic. That day was my 37th birthday. It is possible. Keep pushing for testing.LittleLab4CFKeymasterJuly 14, 2012 at 9:11 am #171205428182
Others have carefully told you the best course for you. Specifically following Printer’s carefully laid out steps. Finding the appropriate CF center, having a sweat test, which if you can’t work up a good sweat right now, PM me and I will go over training your body to sweat right to be properly tested. A full CFTR gene mutation genetic test is the only way to do it right, with regards to genetic testing. So forth and so on. Testing on yourself, may narrow down factors of whether to have your son tested. The probability of your being a carrier is fair, so be prepared to do some serious advocating if you are. CF Purgatory is a positive sweat test, carrier genetics and presenting CF symptoms, which nearly all certified CF centers realize that need to be addressed either way. Don’t let yourself be shoved into the flimsy pocket as a carrier with absolutely no genetic involvement in your disease course.
Maybe I should embed this in my signature so I don’t need to repeat myself. The CFTR gene was discovered fully in 1989. By fully, the gene was traced through the exact biochemistry, showing chemically how cell membrane ion transport was regulated by the gene, a sequence of DNA instructions. I don’t know if the CFTR gene was found by FISH identification of the defect or visa versa, but the CFTR gene mutation, fairly quickly grew to nearly 2000 mutations. You appear to understand the basics of CF genetics, needing two identical CF mutations, one from each parent to have CF diagnosis by genetic analysis. Still, the relatively simple sweat test is the gold standard, and for good reasons, diagnosing CF. The discovery and biochemical understanding of the CFTR gene was an epiphany for CF researchers and practitioners. Many trials attempting to up the number of cells with health CFTR genes have been going on almost since it was identified. Successfully delivering healthy genes, ideally hooked to a chromosome and passed on through cell division is the Holy Grail as this is not a disease rather a genetic disorder. Only gene therapy can we hope for an effective cure. A number of vectors, a vector being like an arrow that hits an intracellular target with a good gene copy, have been tried with various virus tools as example. In some cases, a non disease virus, is shotgunned with good gene copies then it is inhaled, delivering the harmless virus with the good gene inside a lot of mucosal cells. So far, like a mule, the gene might be operating in an infected cell, but doesn’t reproduce, or if it does, the gene seems to fail both divided cells. I can’t count the number of vectors, well thought out, carefully vetted and marginally if effective at all has been the best and most promising cure for CF. Because of the initial discovery of a monogentic disorder, analyzing the direct action of the gene and genetic defects has conflated the increasing hope of genetic treatment/cure and mutation diagnostics. An old school CF specialist, could happily accept a positive sweat test for a diagnosis, and go no further with genetic testing. Sweat tests need to have a protocol, carefully followed in order to insure accurate results, especially with false negatives. But done properly, excepting black swans like Addison’s disorder, or more easily identifiable dehydrating medications from antihistamines, anti-seizure drugs etc. if you or a child to be tested is primed to be sweating properly, it need not go further. But genetic testing, inflated as its importance is, can be valuable for deciding what to do next with your son.
Carrier status is the 600lb gorilla in the room, with regards to CF. As a chemist, if your education was typical, you needed undergrad Biology, or you may have taken Genetics, if so, more power to you, because this is where it gets sticky. Bottom line is the hard line too often by CF specialists is, carriers, regardless what single copy mutation or mutations that may show in genetic analysis, catagorically are inert. The logic being that as long as one chromosome, with a good CFTR gene is working and therefore filling the needs of proper transmembrane ion transport. Um, I don’t think so. This is where aggressive advocating gets to be important. Get treated, you have plenty of anecdotal symptoms and testing likely will reveal something confirming CF or CF carrier w/ disease presentations.
66 year old man. S1235R, 7T, 7T Polymorphism. Bronchiectasis, Exocrine PI, Small Duct Disease and intractable "pancreatic pain".July 13, 2012 at 11:35 pm #171205428181
Great story Steve. Good for you.
76 year old male with CF. Mutations Delta F508 & V562I; A1006E, 5T/12. MAC, 100% PI, Diagnosed at age 47 with first known symptoms at age 3.stephenModeratorJuly 13, 2012 at 11:26 pm #171205428180
National Jewish Health in Denver CO has an outpatient program where they evaluate patients like you. They say it can take up to two weeks.
I had lung problems for decades and developed Bronchiectasis. I went to numerous specialists who were listed as “Best Doctors” at some of the top hospitals in New York. Since my sweat test results were always, none of them suggested Cystic Fibrosis. One did perform some limited genetic testing.
Prior to having lung surgery because of increased bleeding, I went to National Jewish in Denver for a consultation. For me, the evaluation took a week. Their testing was quite extensive and included expanded genetic testing. As a result of the genetic testing, a diagnosis of CF was made.
Just goes to show that no doctor knows everything, and that sometimes second, third, … ninth opinions can be very worthwhile!
As other people have said, a CF diagnosis later in life can be very beneficial. The diagnosis opens the door to a protocol for treating CF. For me, it was a real life changer thank G-d.
PS: I responded so well to the CF treatment protocol, that I never did get the lung surgery and have had only two minor bleeding episodes in the past six years since the diagnosis.
Don’t give up! Wishing you all the best.
70 y/o with CF and Bronchiectasis
74 Y/O with CF (D1152H and G542X) and Broncheiectesis. FEV1 Mid 40s%.
On Kalydeco since March 2014 and doing great.
Love Opera, Visiting Israel, Biblical ArchaeologyJuly 13, 2012 at 7:54 pm #171205428179
My Doctors and I believe that my dad had CF. He fathered 4 children so his case would be “mild”. He was, however. hospitalized on 3 occasions for TB (we believe to be a mis-dx). We therefore believe that the V562I, T5, mutation came from him and the Delta F508 from my Mom. The V562I is very rare.
My point is, obviously, my dad had 2 milder mutations and even today would not likely dx without a FULL CF SEQUENCING.
Keep pushing and get the FULL SEQUENCING for you and your kids.
76 year old male with CF. Mutations Delta F508 & V562I; A1006E, 5T/12. MAC, 100% PI, Diagnosed at age 47 with first known symptoms at age 3.July 13, 2012 at 7:40 pm #171205428178
Basic test is usually 30 mutations. When I was first tested in the late 90’s, I tested positive for Delta F508. My second test was done in 2011 (a full cf sequencing) where the found the second mutation. Even if the sweat test is negative, push for the Full Sequencing.
76 year old male with CF. Mutations Delta F508 & V562I; A1006E, 5T/12. MAC, 100% PI, Diagnosed at age 47 with first known symptoms at age 3.BeccamomParticipantJuly 13, 2012 at 7:37 pm #171205428177
I have a different story, but definately recommend you both get tested. My daughter is in CF diagnostic limbo for more than 1 1/2 years. I am very thankful that she has the most wonderful doctor who treats her for CF and the treatments work (Hypersal, anitbiotics including IV, vest for mucus clearance). Her FEV1 increased from 55% to 100% after 11 years of incorrect asthma treatment. The insurance company is difficult to work with without a diagnosis and since my daughter with symptoms has 1 CF gene and my other child the 5T variant I wanted to get my symptomatic child’s genetics redone by Ambry. So I had my genetics done by Ambry trying to prove her result was not possible. It did not work out that way and instead I found out it was me that has both the CF gene and 5T variant. It explains my symptoms which seem so mild compared to most here. I have been to the adult CF clinic and the doctor does believe I have Non-classic CF/ Variant CF/ Atypical CF depending on which term the doctor prefers. I was in complete shock at my test result. You never know and just 2 weeks on the Hypertonic saline and I have more energy, sleep better, breath easier, etc etc etc. I found out the sinus antiobiotic I have been on for an extended time also combats PA. So no you are not crazy to wonder about yourselves.AboveallisloveModeratorJuly 13, 2012 at 7:18 pm #171205428176
Thanks Bill. That’s what I thought too. I’m going to do a Sweat Test first at the Adult CF Clinic–our son’s CF doctor said I need to get referral from my GP, but I’ll defnitely get at the Adult CF Clinic (it’s one of the top in the country), and then from there the FULL CF sequencing, b/c if I have it would be a rare mutations, I’m sure since I had the basic ones done after son’s birth. Thanks again!July 13, 2012 at 7:07 pm #171205428175
Sanfloraine and Aboveallislove:
Both of you are showing sufficent symptoms to justify further examination. Trust me, as ADULTS we do not so the same symptoms as children. Your dx therefore will be different.
If it is required by your insurance, get a referal from your PCP and go to an APPROVED ADULT CF CLINIC and see a ADULT CF SPECIALIST. Try to have a FULL CF SEQUENCING done. This is not something that can or should be handled by your PCP.
BillAboveallisloveModeratorJuly 13, 2012 at 5:26 pm #171205428174
I smiled reading your post because I had just asked our son’s CF doctor how I would go about getting tested and she looked at me like I was crazy. But my husband has said the same that I should get test–I have really thick mucus which I have a hard time getting out and it often makes me vomit when I try. Major digestive issues. And some aquatic wrinkling that seems more than “normal.” And I like to eat salt by the spoonful. Frankly, I think it’s just being a carrier, but will I figured it can’t hurt to make sure with a sweat test and will talk with GP next physical. Long way of saying, you aren’t crazy–yeah, maybe some depression/anxiety shows through physical signs, but there are also real physical things that might just not be CF/could be b/c you are a carrier. But it definitely sounds like acid reflux which should be controlable so maybe find a new doctor that can help with that.
Also, would you mind sharing your probiotic info? DS and me both have major issues and would like to maybe try something new after running by his GI???JanaMemberJuly 13, 2012 at 5:16 pm #171205428172
It looks like nobody really has an answer, but I didn’t want you to not get any response. It’s difficult to know about something like this. Your symptoms don’t necessarily sound classic for cf, but it’s a weird disease which doesn’t always manifest itself in the same way.
Periodic episodes of shortness of breath (which I’m assuming goes away untreated?) is really not a symptom of cf, although the scarring seems odd.
A lot of mucus–definitely a symptom! Most commonly green is the problematic color, but that’s a result of bacterial infection and wouldn’t necessarily have to be the case.
As far as the digestive issues, reflux certainly is a common problem with cf, but the primary issue is pancreatic insufficiency. I believe reflux can be from a lot of causes. The floating stools are more suspect, but you said the test was normal, right?
It sounds to me like you need to find a good doctor you can trust and just talk it over with him. Your symptoms wouldn’t make me quickly think you have cf, but that doesn’t mean it’s not something you might want to look into. Obviously there are some things going on that need to be addressed, and a good doctor should be able to help you sort through all of the varying symptoms. I hope you’re able to find answers soon!
JanaJuly 13, 2012 at 6:05 am #1748748
I never associated CF with my symptoms but my son has been diagnosed as CRMS/PI and that made me questioned some symptoms that I have been having for years.
So please tell me: are these valid CF symptoms or maybe simply I am a carrier or just plain psycho.
I am not too concerned about myself (I am 43) but my son is in a grey area, if I were to have something related to CF that would help us treat him better – right now he is only treated with enzymes and flovent.
I grew up very normally, very healthy childhood.
Lung problems: at 18 I started to experience my first episodes of shortness of breath, with urban pollution in winter. Every year it would get worse and worse, and then it was not only in winter. Triggers are also: some chemicals, some perfumes, dust, outdoor molds, cats, cat pee, anesthesia meds. I used to be a chemist (terrible choice, did not help), I had to switch career. The episodes are always the same thing: terrible shortness of breath. I cough mucus here and there but not all the time.
I always have hyperinflation of the lungs on X-ray, I have had scarring of the lungs as well in the past on a CT scan. Albuterol has no effect on me. The only thing that work are steroids, I have been on prednisone bursts several times in the past. No doctor ever suggested CF. I was diagnosed as having “reactive airways”…
Nose: always ‘yellow stuff’ up there and I tend to have sinusitis at times.
Digestive problems: at 30 I started to have very painful episodes of stomach pain (upper abdomen), followed by acid going up my throat to my mouth to the point it feels like I have a toothace. Bloatting and gas as well with the episodes. The pain is the worst thing, it can be very strong at times, I’ll be rolling on the floor. I take pain medication, episodes will recede, than come back the next day but less bad.
I had an endoscopy and a colonoscopy that showed absolutely nothing. I also have floatting stools, all the time – a doctor told me it was air… And constipation used to be the norm for me, laxatives and Miralax became my friends until very recently when I discovered a new probiotic that has really helped me become regular (my son as well). I recently asked to have a fecal elastase test, this was normal.
I have seen countless lung and GI doctors over the years, yes some have suggested that I go see a psychiatrist. Which is why I am very relunctant to even suggest I be tested for a simple sweat test – I don’t even have a primary MD right now, looking for a good one.
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