Symptomatic CF Carriers

[MommaKas]

I am a little confused... almost everything I read says CF carriers don't have symptoms, but I have seen posts from some parents that say their kids have only one known mutation and they have symptoms. The reason I ask, is I have had lung/GI problems all my life, and never knew I was a carrier until I was screened in my last pregnancy. That is what led to my older daughter's diagnosis of CF, and she was nearly 10 by then. I have heard several parents on here saying to watch your CF carrier child for symptoms, but when I asked my daugher's doctors they simply said carriers are asymptomatic.... so frustrating when some doctors say one thing and some doctors say the opposite... does anyone know if carriers can be symptomatic, and if so do they do anything for it or no?

 

[BarbaraW]

My kids are considerd carriers, but that may change. We have an appointment with the head of our CF clinic coming up. They are both PI, both get many infections - respitory, sinus all year long, and DSs lung has collapassed once.

 

[Mommafirst]

In theory, a carrier should be asymptomatic. HOWEVER, it seems that they are finding there are either CF mutations being missed OR there is somewhere else in the human genetic makeup that impacts CF symptoms. So someone with one known mutation might be diagnosed with an "unknown" mutation on the other allele since there symptoms inidcate they do have CF.

 

[Havoc]

A dominant gene does not always repress every phenotypic expression of the recessive, so as a carrier some CF symptoms are possible. The most common are usually digestive issues and sinus/allergy issues. As others have stated, sometimes it's a matter of an unknown second mutation that isn't caught.

 

[Brad]

My Mother has most of the Cf Symptoms, but is only a Carrier. It is of course getting worse
as She gets older. My Father had some symptoms also before He passed.

 

[2005CFmom]

My husband is only a CF carrier (verified by Ambry sequencing and sweat test), yet he has symptoms. He sees a pulmonologist every 6 months and does many of the same treatments as my daughter with CF. He does have bronchiectasis but neither he or my daughter culture PA or MRSA (only normal staph). The doctor feels that his carrier status does have something to do with it so he if very open to trying CF meds for my husband. He does albuterol, hypersal, and pulmozyme nebs, and he does his vest 2x a day. Pulmozyme is usually only recommended for patients with CF, not bronchiectasis caused by something else.

 

[Jessesmom]

Thanks for that response, Heather and Jonathan! The problem is with an unknown second mutation they are considered non-CF, so symptoms get treated from that perspective. For example my carrier-kids have puffers, are seen by dietitians who in my opinion give the wrong suggestions, etc. There's no preventative treatment whatsoever. And they are not seen by CF clinics, but by a regular GP, who knows basically nothing about CF.

Has anyone in Canada done full sequencing in the US and how did you go about that? (sorry maybe this should be a new thread).

MommaKas - what were your daughter's symptoms before her diagnosis at age 10, and how was she treated?

 

[LittleLab4CF]

For those who read a couple recent forums, (anybody got M470V and CF or not CF) I think several carriers have been asking this question. Putting aside genetic sophistry for the moment, we feel minimalized, doubted and generally ignored. By luck, I had a pancreatic function test and sweat tests (at 50) first and given the diagnosis of CF. Genetic testing which in the decade has exponential improvemt in technology. As often comes with technology advancing, we now have a pool of known CF mutations 4 times larger than a decade ago. Ten years ago M470V "has no known effects". Not saying but sounding like, we know it has no effects. Havoc brings common carrier issues to a point. Pulminary disease is the focus CF for good reason, if CF is going to win, only rarely is it other than the lungs in one way or other. Indeed a dominate/recessive outcomes are not black and white and I seriousely doubt all CF mutations are recessive.

There's the slippery slope to genetic sophistry. Sadly I know too well the barely tolerated by my CF doc, he is a pulmo and at CF clinic, I look at children and adolescents many with buzzing oxygen units and understand if nothing more than my age, things ain't that bad. Then again, I am not sitting in clinic to show off. Havoc picked it again in that my sinus and GI problems dominate my cross eyed diagnosis. But since I am not dead, gotta be a carrier. When I had my first CF evaluation, a sweat test on a 50 year old wasn't medically quantified. The senior CF dr where the sweat test was done made the CF determination and diagnosis. As we have all learned, Doctors are opinionated and self confident. A dignosis from one specialist is the first thing questioned by another. No, I can't begin to fathom lungs resembling oil soaked socks. Conversely at the time I was given a pancreatic function test, it was a North American record for bad. My idea of serious constipation is 6 weeks! Yeah I have radio opaque lungs combined ground glass scarring, rosette scarring and I am just not sick enough to justify multiple prophylactic antibiotics. Compared to non CFers I have unending, rotating, sometimes several concommit things going on.

Beyond doubt carriers can have CF symptoms that equal those who are considered diagnosed CFers. Most often we become minimilized because the nature of the disease and the sweat tests have not changed. Genetics, first as a diagnostic tool holds the greatest promise of treatment. No vitamin, antibiotic or non genetic cure has cured CF. CF genetics is poorly understood by all but the few who work closely on genetic diseases. And being first traditionally diagnosed with CF, genetically determined to be Atypical CFTR carrier status. It drives me to distraction.

 

[MommaKas]

My daughter's symptoms that started at birth were mostly GI. From the day she was born she had bad GI issues, but none of the doctors put her symptoms together... She started seeing a GI doctor at age 4 and was diagnosed with acid reflux which we tried for years to treat with Tums and Prevacid.... unsucessfully of course. By the time I was told I was a carrier in Dec 2009 she had a chronic cough. She wasn't actually diagnosed until (Aug/Sept 2010), but by then her lungs were not doing so well and they hospitalized her on the spot for her first tune up.... they were afraid she would have permanent damage.... she originally did better than they expected they managed to get her FEV1 back up to high 90's, but for the last year or so her PFT's have been dropping 1-2% at every visit. She was hospitalized in March, and got slightly better, only to drop back down after a couple weeks....We are actually going for another follow up tomorrow to see if she has to go back into the hospital.

 

[MommaKas]

Thank you all for the responses... I am certainly of the opinion that some carriers do have symptoms. Although I have never had any issues putting on weight, but rather losing it... I have always had chronic lung and GI symptoms. My husband and I both carry the DF508 gene, but he has no symptoms at all unless you count the fact that he can't gain weight no matter how hard he tries.... I was diagnosed with asthma as a teen, and IBS/colitis in my young 20's, (my mother always thought my health issues were because she was sprayed with a pesticide that was later banned while she was pregnant, but I have a feeling it was always because I carry the CF gene)... if it weren't for the fact my other daughter has been tested and is apparently not even a carrier (although she has many symptoms like her big sister), I'd have myself sweat tested as well.... that being said, if some doctors and researchers feel that "some" carriers have symptoms, why does the CFF say that carriers are asymptomatic and not research it further? I am still relatively new to the CF world, but from the very beginning when I started finding out how many people are touched by CF in one way or another I thought that the "30,000 US and 70,000 world" numbers for CF patients sounded inaccurate...especially when you see all the people now who are being diagnosed in their 40's 50's 60's etc. I think in the future that having one "good" CFTR gene may not necessarily rule out CF when taking other modifier genes and such into consideration.

 

[LittleLab4CF]

In the forum Maybe CF, Maybe Not CF some incredible thoughts and insights surfaced. "CrisDopher" said he often laments the CFTR gene mutation ever being discovered. This discovery came in 1989, not long ago in the scope of medicine just over twenty years has passed. I have a doctorate in genetics and I am reasonably current in the science. Tested for CF in 2000, my genetic test classifies me as a carrier. The redeeming note was my prior confirmation of CF by conventional testing. Genetic paternity, CSI shows would have us believing we have this genetics stuff nailed. I devoted a considerable amount of my life turning genetic bottlenecks into research and commercial genetic technology. The bottom line is so much resource has been invested in genetics and CF for good or bad is the poster child for genetic analysis and now a viable cure for a limited few with the right mutation. Primarily a lung disease we haves given hopeless CFers virus loaded with good CFTR gene copies etc. ad infinatum. As expected, most doctors have made CFTR gene analysis a false god. Just from following the limited anecdotal data in this CF forum, CF docs have to know how capricious a genetic analysis for CF is.

This is why I question genetic analysis of CF. What do they mean by having two or more mutations to "have" CF? Is it two copies of the same mutation, or two or more somatic mutations? At National Jewish in Denver, a decade ago I was solidly told both ideas as fact, by two different health professionals, namely doctors. I watched and learned that the practical use of genetic analysis for prediction of how sick or how long ones life expectancy will be is admittedly silly. When you combine pulmonologists with cystic fibrosis and add a required knowledge of some non Mendelian genetics, technology that has overloaded us with more untested data, more variences and like my observations of '50s & '60s pill for everything fad, I now carry a Nerf mallet to CF clinic.

In other words hang your symptomatic carrier concerns. If you cough like a duck and have been diagnosed with ulcers, GERD, IBS, pancreatitis, constipation and floating fatty stools. You have far more tangible reason for a CF diagnosis than the juggling AGTCs of a marginally understood science. Anyway, it's a thought.

 

[Maxinej]

Keep in mind that you're looking for CF symptoms, not thinking that it could be a seperate issue. Carriers are asymptomatic. This does not mean, though, that a carrier can't have unrelated lung/ pancreatic problems.

 

[momofsinus]

I think this whole issue is unresolved. My son's pulmonologist says there is now more data indicating that
carriers can have symptoms either because ( as stated above) he has a currently unknown mutation or because researchers have not figured out the whole mechanism of CF. Researchers have definitely identified certain mutations as "disease-causing" and some of those are specific to gastric issues. The clinic at Loyola near Chicago now uses the term, CF metabolic syndrome and that is how they are curently describing my son. He had the full Ambry panel back in 2008 and his sweat tests were 23 and 26. His main issue continues to be sinus related. His recent cultures were negative and his lung function tests were normal. The team recommends that he come in once a year to be tested and to come in if he develops any "cold" that does not resolve in a week.

 

[Swallowtail66]

My non-medical person's research has suggested that there are other genes that modify the bodies CF symptoms. for example: HLA, the gene that deals with our autoimmune issues of which I have several. By diagnosis, I know I have a crazy HLA. Research says HLA can add to the CFTR symptoms. It is too complex. Doctors have never even tried to check my HLA, they just treat me. If it walks like a duck, quacks like a duck, it ain't a chicken...

 

[cfmumfromoz]

Hi there
I have also been wondering the same thing about CF carriers having symptoms. I am a carrier, we have a 6 year old with two different mutations, one considered 'mild' particularly for pulmonary but not PI symptoms (he is pancreatic insufficient)and mine is not the mild one. Over the last four years I have been struggling with GI symptoms and weight loss, and have documented fat instools.One gastro doctor I saw said as a throwaway line at the end of consult said "perhaps it's related to your carrier status, there has been some link found between carrier and symptoms." He suggested I go on Creons to tell. I finally did this, only to find it correlated with worsening GI symptoms, greater constipation and continuing weight loss.
A related question I'm going to throw out there (if my gastro can throw questions out into the ether, surely I can throw them in to more knowledgeable CF community <img src="i/expressions/face-icon-small-smile.gif" border="0">)Can carriers(or arguably those with one undiagnosed mutation) who have been asymptomatic their whole life suddenly develop symptoms due to a traumatic event (<strong>such as perhaps the diagnosis of their own child with an illness such as CF)?</strong> That is, can the symptoms potentially wait in the wings and be triggered by low immunity or trauma?? I suppose this question is not limited to carriers but to all with CF symptoms diagnosed late in life due to late manifestation of symptoms...
I welcome any and every thought....

 

[Swallowtail66]

My CF clinic follows me not because I am in such poor health, but because they want to catch a decline before it causes a major problem. The doc explained that as we age our level of functionality decreases. A natural process. People like me, granted, with an apparent higher level of functionality than "normal" CF, often become sicker and have more CF symptoms as they age. We begin the decline at a "lower" level of functionality and therefore experience the decline sooner and harder than most. I am firmly in "middle age" and have definitely seen a decline in functionality across the board. It requires lots of work to keep my body working as well as possible. Even if you only have 1 mutation, if it is severe enough that it is a "null", or a zero function, you are living at 50% at best. Instead of the decline starting at 95%, it is starting at 50%. That is a layman's understanding of what was explained to me, but that is what made sense to me and why I take such good care of myself.