Does a Carrier of the CF gene exhibit symptoms?

I totally agree with you I also ami carrier and I swear we also have symptoms too which yes are more mild than full blown CF, but yes I'm such a mucusy person whom constantly clears my throat and my sinuses are really bad when they happen it's bad

I have a very questionable symptom. I have had 5 spontaneous pneumothorax and I have also had very hard time with pneumonia and at one point had a fungal infection in the lungs. My granddaughter was born and diagnosed with CF. I was tested, as was everyone else and I am a carrier. I also have the sweat issue as does my granddaughter and I keep wondering if there are symptoms for the carrier of the mutated gene. Please help.

My daughter with CF had one allele that is very rare and not tested for. A genetic test performed today would tell us she was just a carrier. My son with this are gene would have been told he wasn't a carrier but he was tested for this specific type.
If a child has symptoms they need to be tested for all the lethal varieties. My daughter was treated for symptoms and diagnosed with the rare allele only after her death.

Hi I'm so sorry for your loss. How do you get a child tested? My daughter has huge dietary problems. I am a carrier my husband is not of those tested. They won't test my daughter for being a carrier or my husband or daughter for rarer mutations? Can we do it privately?

Thanks

hi, i 'm 46 and I have suffered from pancreatitis for 5 yrs, first I was told it was IBS but after lots of hospital admissions I was referred to a pancreatic specialist, I have chronic pancreatitis that they could not find out why. I had a genetic blood test an found out i'm a CF carrier, My consultant says he doesn't think that's the cause but has referred me to a genetic specialist. After reading this forum and other sites I do feel that the CF carrier gene is the reason.I also suffer from lots of mucus and a chesty cough,

I am in the same situation. I've had a morning and exercise cough,bronchitis and ear inflections my whole life. I've had pneumonia twice. I'm 48. When 23andme came back with me as a carrier, I looked it up and it was like truth was finally revealed. It makes complete sense that I have a mild form of CF. one if my three daughters is the same as me. I was happy to find these chat room that validate I am not alone in feeling there is a connection. The person earlier who said doctors are worried about patients having imaginary symptoms was off base. While this could be true in some cases. The people on this chat experienced symptoms long before they knew they were a carrier. The knowledge is a relief and an explanation.

I am a carrier and sweat profusely to the point of releasing actual salt from my body. I have also had a spontaneous pneumothorax 5 times and the 5th I had surgery to staple my lung. No one believes this is related but I sometimes wonder. My granddaughter has confirmed CF and at 5 months had a collapsed lung. Such irony

I believe carriers do have symptoms. I have 9 grandkids and 1 has double delta f 508 and just turned 7 months old and has his first negative culture. Hes on the complete daily treatment of Neps, enzymes, vest and etc.
But 3 others are carriers and don't get the monthly throat culture. But has some times more symptoms that he does. So yes I do believe some carriers of CF has symptoms.

This is so interesting to have found and I am so glad I did.
I found out 3 years ago that I am a carrier of CF when getting my eggs frozen. I didn't even know what it was. (I'm adopted so don't know my family history.)
But I have had SO many of the problems that all of you are mentioning. As a baby I had horrible ear infections and had tubes put in my ears. I get sinus infections ALL the time - if I have allergies, it turns into a sinus infection, if I have a cold, it turns into a sinus infection. I have low blood pressure. I've had two asthma attacks. I sweat a lot and run really warm and always have. I am sensitive to sinus pressure with altitude or swimming underwater. I've had some hearing issues. (Not sure if that is related but thought I would throw it out there.) I always feel dehydrated and get chapped lips and a dry tongue. And I've had blood work done where the doctor said that I wasn't absorbing essential nutrients. (Another problem CF people have.) Anyway, I am so glad to have found you all and to see that not only am I not alone, but also that, if these symptoms are connected to me being a carrier of CF (which I think really makes sense), then maybe I can work to alleviate them using methods/diets/etc used to help people who are being treated for the disease. Thank you all so much!
Also, I think the reason that doctors don't acknowledge it is because they go by the books, and it's not in the books. (It needs to be.) Large groups of people are often adamantly wrong. (And often those large groups are medical professionals - doctors used to encourage cigarettes after all. There are a million examples in history - including very recent/present history - where this is the case. And yet people always think that they are right. It's human, and it is super annoying. I've been adamantly wrong in my life too.) Anyway, I think it's important to realize this and to understand that just because the medical profession does not acknowledge at this time that carriers have symptoms - things change. If we can push that, that would fantastic and would help so many people. (1 in about 30 Americans I think.) Doctors need to listen to patient's concerns rather than flip to a page in an old text book. There should definitely be a Facebook community for this. (Haven't read all the comments yet so not sure if one has been started.) I'm going to look and to also look for things people do to manage CF that I can apply to my life. I will try and come back and share anything I find! Please do the same! So glad to have found this community!

I totally agree. That was SO frustrating to read, even though it came from a good intentioned place. (The road to hell is paved with good intentions.) I think that when doctors or people say that carriers are imagining the symptoms/connection between the symptoms and being a carrier, they are silencing carriers and not listening to them. It's so easy to jump to conclusions. And jumping to the conclusion that carriers are delusional prevents them from considering the option that there is a connection and that so many people could be helped. It's a lesson to everyone - don't be so quick to judge. How frustrating for everyone who has had to suffer because of closed minds. We need to push this!

I have had pancreas problems since in my mid 20's (probably earlier) and am now 48. I was diagnosed with idiopathic or undetermined cause of pancreatitis. I researched for years and saw a link to CF. However, no one in my family has been diagnosed with CF for generations that we know of. I always had a feeling that something genetic must be causing my problems. Well, I just recently found out I'm a CF carrier. I went searching for clues again and came across this site. I had a feeling the test would come back positive, and it did! Coincidence among all us here? I think not.

My son has had a multitude of health problems since birth. CF was suspected and we tried the sweat test 5x, yet he never produced enough sweat. We had the blood test done in 2009 and it came back negative. He instead was labeled failure to thrive and later as having an undiagnosed genetic disorder and unspecified immunodeficiency disorder. In 2014 we had a whole genome sequencing done- nothing definite shown, now in 2017 we had his dna tested again and WOW with the advances in genetics there is a new mutation found in his CFTR that is not part of the CF blood panel labs done, and was not even known in 2014. He has one mutation, not 2, and yet the finding is considered pathogenic and our doctors do feel it explains his symptoms. So, I do think the view on CF is changing and that it is true that you need only one mutation to have the disease.

CF Carrier (Single Gene) – issues: recurring sinus related bacterial infections, prednisone dependency, chronic sinusitis, thick Mucus, Immune deficiency from Prednisone, Osteoporosis (arthritis in Knees) and broken ankle that led to a DVT in my leg, Reactive Airway Disease, partially collapsed lung, and CF carrier.
I am a 63 year old male. I am in an ongoing daily battle to resolve these issues and I found this forum and decided to post my struggle to help others or maybe find someone who has resolved similar problems.
Background: For as long as I can remember I developed Bronchitis after ever cold I have had.

Current History: I started getting several sinus bacterial infections about 4 years ago around age 58, and was put on prednisone to control inflammation – I have not been able to wean off prednisone. I have had two sinus surgeries, but sinus infections continue occur as I lower Prednisone, which we believe is caused by thick mucus in upper left sinus not clearing and drying and becoming infected by opportunistic bacterial infections (due to lowered immune system believed caused by Prednisone). I am seeing approximately five doctors from Columbia Presbyterian (ENT, Pulmonary, CF, Immunology, and Infectious disease); two doctors from the MAYO Clinic (ENT and Pulmonary) and have input from one doctor from Johns Hopkins(CF) – this is in addition to by primary care doctor who is my Concierge physician and tends to oversee my treatment . I do not have asthma but they are calling my breathing issues Reactive Airway Disease – when lungs/bronchial areas become affected (increased Mucus) once I have sinus infections. I currently nebulize 2- 4 times a day with Budesonide, Sodium Chloride 7% and Levalbuterol to keep lungs clear.

I was diagnosed as a CF Carrier in late 2015 following a buildup of mucus in my lungs that led to a two week hospital stay do to a partially collapsed lung filled with mucus. A bronchoscopy was eventually performed under full anesthesia to clear the mucus. The only feedback I really got from the surgeon was that it was so thick that it clogged his machines and he had never seen anything like it before. The CF testing was done after I was released and at that point I was told I am a CF Carrier – I also did the sweat and bowel tests which were negative.

None of the Doctors at Columbia Presbyterian had knowingly dealt with a CF Carrier patient like me before, but I am told they have since me they have started checking for CF / Carrier status with people who have symptoms similar to me. They told me that they recently determined that a patient who presented like me actually has CF that was not diagnosed previously. They believe the second gene was very weak in that patient’s case.

My primary care doctor sent me to the MAYO clinic mid 2016 for additional input. At the MAYO I am being treated by an ENT, who as is it turns out, has dealt with several CF Carrier Patients. He has told me that what he/Mayo are seeing that CF Carriers tend to present in their 50s and 60s, like I have. He cautioned though that his population is only people with problems and he can not infer anything as he has no handle on CF Carriers that do not present symptoms. He has me doing sinus rinses with Tobramycin for the past 90 days – to see if we can prevent the sinus infections while I drop Prednisone. I still have not been able to drop below 9mgs for prednisone as of this point – but the Tobramycin seems to be making things more bearable. I see him later this month as a follow up appointment.

My Cycle – Objective is to get off prednisone. I lower prednisone very very gradually, mucus begins to increase in sinus and then lungs/bronchial areas. I then increase sinus rinses and nebulizers in cycles of up to 4 times a day. Then my sinus becomes infected and antibiotics are used and Prednisone is raised. When bacterial infection is cleared, I begin process of lowering prednisone again. Tobramycin seems to be helping this time … but mucus is starting to increase again as I write this … hoping to get through this soon. I have never had bacterial infection in lungs….

I forgot to note that we believe that my first sinus infection (4 years ago) was caused by by using a CPAP machine for sleep apnea. Apparently the air blown into my sinus would partially dry out the mucus in my upper sinus leading to the initial sinus infections. From this point forward we believe the prednisone, that has weakened my immune system, has led to the opportunistic bacteria's (pseudomonas) to take hold and continue to come back as I lower Prednisone which leads to inflammation and more mucus..

FYI - I am now using a dental Sleep Apnea device which keeps my airway open when I sleep -- so no more air blowing.

Does anyone know how to get a child tested if they are a carrier in the U.K.? The GP says it can't be done until she can consent? Would private do it? Thank you.