Recently diagnosed at 31

[Krysm3]

Hi! My name is Krystin, I'm 31 with two kids and here's my story.
December 2012, I was at the beach enjoying myself in a hot tub. Two days later, I started coughing. Productive coughing. I assumed it was bronchitis and went along with my life for 6 weeks assuming it would go away on its own and not wanting unnecessary antibiotics. I broke a rib coughing, so it forced me to the doctor. Diagnosed with bacterial bronchitis and sent home with antibiotics. Nothing. Called the doctor telling them the cough was still present. Stronger antibiotics. Nothing. New doctor, new visit and given 2 antibiotic injections in my booty, steroids, zpak. Felt a little better, but still coughing. More antibiotics prescribed. Nothing. Next came a visit with a top pulmonologist but who mostly only treats children. Breathing tests, sputum culture (which was negative-come to find out, they didn't test for P.A.). They sent me to a top adult pulmonologist for a bronchoscopy (6 months after hot tub visit). The new pulmonologist didn't want to do a bronch on me, instead asking a few questions (did I play sports growing up? Yes. Ever any breathing issues, shortness of breath etc? No.) diagnosis- asthma and acid reflux. What the?! New meds didn't do a thing. Went back to first pulmonologist/asthma/allergy specialist because it was mentioned I could have allergies. Allergy testing done. Suddenly I have allergies that I've never had symptoms for, so I was given allergy meds. I asked if all of these diagnoses cause green mucous. "Not really." So, I knew it was something else. After 15 months of being misdiagnosed, 7 rounds of antibiotics, acid reflux meds, asthma inhaler, allergy meds later, I flew up to the Mayo clinic for real answers. Diagnosed with pseudomonas and scheduled for a bronchoscopy immediately. Entire left bronch tube filled with phlegm. I was given a schedule of 3 months of levaquin and then to return for a check up. The levaquin helped the first month, then nothing. Went back to mayo clinic after 3 months and had further genetics testing, scans, and it was decided to go through IV antibiotics. Sweat test completed and came back negative (31/36). Had a Picc line placed and flew back home. Genetics test came back and I have 5T gene and Delta F508, which the geneticist stated symptoms and testing do not fit clinical criteria of CF.
After IV antibiotics, I was cleared of pseudomonas, but still coughing which ultimately lead the doctors to the CF diagnosis. I'm still in denial =D. I do not have any other symptoms but 2.5 years after catching pseudomonas from a hot tub, I'm still coughing. My sinuses/nasal passages checked out great, pancreas is excellent, all blood work is great, and I've never had breathing/coughing issues until this. From what I've read in my research, adults diagnosed with CF have had some sort of issues since childhood which leads me to my denial =D. Mayo Clinic released me to be cared for under UNC which is closer to home. I've been twice and they forgot me BOTH times in the patient room for one hour. Both times! Not impressed =)

Thank you for reading my story!

 

[Aboveallislove]

Welcome Krystin!
Wow! You've been through a lot. I guess what I'd say is this: That you have two gene mutations. One of which causes CF and the other of which may or may not. Whether you consider yourself as having CF, the thing to keep in mind is that your genes are mutated and aren't working "normally." If they were, you wouldn't have gotten pseudo from the hot tub that you couldn't get rid of for months! If you have the official "diagnosis" that is actually "better" in some ways because insurance will then cover some things that can help you feel 100% ...so while you might not need to do everything others here do, it might help you stay healthier to be doing the basics...albuterol, vest, hyper-sal or pulmozyme. Hang in there and if you have any questions fire away!!

 

[imported_Momto2]

This is not the first time I've heard of someone with CF who had no issues until mid adult-hood, then something triggered the disease. It's gotta be a bit of a shock. But now that things have "kicked" into gear, I would highly suggest following the CF clinic regimine if you want to stay relatively healthy.

 

[Simba15]

It is quite a shock isn't it? When I was dx at age 50 I could not drive myself home from the doctor's office. I sat in my car for 3 hours until I calmed down. Usually the older we are when we are dx the rarer mutation type we have. I am glad the mayo clinic helped you. At least you have them! That's a good thing. Even after being dx you ill find many doctors, even specialists cant help you. So you may have to go to the mayo clinic. I went to Yale where the CF social worker cursed when speaking to me and the children's GI doc's did not give sound advice at all. It is scary. hang in there.

Hi! My name is Krystin, I'm 31 with two kids and here's my story.
December 2012, I was at the beach enjoying myself in a hot tub. Two days later, I started coughing. Productive coughing. I assumed it was bronchitis and went along with my life for 6 weeks assuming it would go away on its own and not wanting unnecessary antibiotics. I broke a rib coughing, so it forced me to the doctor. Diagnosed with bacterial bronchitis and sent home with antibiotics. Nothing. Called the doctor telling them the cough was still present. Stronger antibiotics. Nothing. New doctor, new visit and given 2 antibiotic injections in my booty, steroids, zpak. Felt a little better, but still coughing. More antibiotics prescribed. Nothing. Next came a visit with a top pulmonologist but who mostly only treats children. Breathing tests, sputum culture (which was negative-come to find out, they didn't test for P.A.). They sent me to a top adult pulmonologist for a bronchoscopy (6 months after hot tub visit). The new pulmonologist didn't want to do a bronch on me, instead asking a few questions (did I play sports growing up? Yes. Ever any breathing issues, shortness of breath etc? No.) diagnosis- asthma and acid reflux. What the?! New meds didn't do a thing. Went back to first pulmonologist/asthma/allergy specialist because it was mentioned I could have allergies. Allergy testing done. Suddenly I have allergies that I've never had symptoms for, so I was given allergy meds. I asked if all of these diagnoses cause green mucous. "Not really." So, I knew it was something else. After 15 months of being misdiagnosed, 7 rounds of antibiotics, acid reflux meds, asthma inhaler, allergy meds later, I flew up to the Mayo clinic for real answers. Diagnosed with pseudomonas and scheduled for a bronchoscopy immediately. Entire left bronch tube filled with phlegm. I was given a schedule of 3 months of levaquin and then to return for a check up. The levaquin helped the first month, then nothing. Went back to mayo clinic after 3 months and had further genetics testing, scans, and it was decided to go through IV antibiotics. Sweat test completed and came back negative (31/36). Had a Picc line placed and flew back home. Genetics test came back and I have 5T gene and Delta F508, which the geneticist stated symptoms and testing do not fit clinical criteria of CF.
After IV antibiotics, I was cleared of pseudomonas, but still coughing which ultimately lead the doctors to the CF diagnosis. I'm still in denial =D. I do not have any other symptoms but 2.5 years after catching pseudomonas from a hot tub, I'm still coughing. My sinuses/nasal passages checked out great, pancreas is excellent, all blood work is great, and I've never had breathing/coughing issues until this. From what I've read in my research, adults diagnosed with CF have had some sort of issues since childhood which leads me to my denial =D. Mayo Clinic released me to be cared for under UNC which is closer to home. I've been twice and they forgot me BOTH times in the patient room for one hour. Both times! Not impressed =)

Thank you for reading my story!

 

[JustaCFmom]

Hi Krystin,

First of all, welcome to this amazing forum. There are loads of wonderful supportive people and information. I don't know much about the genetics and having negative sweat tests, but if you've got a CF diagnosis, maybe it will help you get back on track.

My now 19 year old daughter had NO SYMPTOMS (really!) until she hit puberty. Then, she was coughing for over a year straight until we got the CF news (she was 15 then). Her sweat test and genetics all tested positive (thank G-d, pancreatic sufficient for now), so our diagnosis was relatively simple. Thanks to her, her 2 brothers got diagnosed as well and they are all doing great. She & one bother had Staph growing in their lungs, but the 8 year old had Pseudomonas. The medicines helped them eliminate their infections.

Now, things got interesting 2 years ago when my now 6 year spent an entire winter coughing. Her tests had originally shown that she wasn't even a carrier. We repeated everything and while the genetics are correct (no mutations), she had a positive sweat test. So, nothing is fool proof.

I just want to say that with this diagnosis comes top notch health care. I call the CF Centers the Rolls Royce of medicine. Even if they are mistaken, I hope you feel better soon. My daughter stopped coughing once she did all the therapies. In our case, it was mostly the antibiotics, but the physiotherapy definitely tips the scales (we get a physiotherapist to come to our home vs. the vest system). The correct diagnosis is important, so I hope they have the answer & you do well with a medical team.

 

[Melissa75]

Krystin,

My story is similar to yours in that I bounced around with a chronic infection for a long time before getting a bronchiectasis diagnosis. Also, even though I'd coughed all my life and been prone to lung infections, the severity didn't kick in until I was about your age.

I wanted to tell you that it's been ten years since then, and with regular meds, quick and targeted treatment for flare ups, and a lot of vigorous exercise, I'm doing much better than I was then. I want to encourage you to be as active as you can. When people told me to exercise 10 yrs ago, I wanted to kick them. My chest hurt 24/7 and walking a few blocks was hard. I came on this board and one called bronchiectasis-r-us, and I read about people with lung function 1/4 of mine who jogged daily or worked as baggage handlers in the airport, and I realized I had to really give the exercise thing a go.

My infection rate has been much lower in the past 7ish years since being proactive with the diagnosis and exercising a lot. Although my lung function IS technically lower, my quality of life is tremendously higher, and I am pretty sure that the function would be significantly lower had I not been inspired by the people here and at b-r-us. Considering reading the exercise section of these boards to see what I'm talking about.

A new diagnosis requires a lot of learning and a reorientation of your perspective on yourself. Take things one day at a time. Getting your pseudomonas infection under control and starting an airway clearance regimen is high priority. You may need to start inhaled antibiotics. Also, for mucus clearance, your dr can order you a Vest, or an Acapella device at minimum. Have you been tested for the pancreatic issues that come with CF? Vitamin deficiencies can affect your immune function among other things, even if you're not underweight.

Please let us know how you are doing. Ask any questions.

 

[rtorres25]

Confused by your geneticist???

(NOSEPICK)

Hi! My name is Krystin, I'm 31 with two kids and here's my story.
December 2012, I was at the beach enjoying myself in a hot tub. Two days later, I started coughing. Productive coughing. I assumed it was bronchitis and went along with my life for 6 weeks assuming it would go away on its own and not wanting unnecessary antibiotics. I broke a rib coughing, so it forced me to the doctor. Diagnosed with bacterial bronchitis and sent home with antibiotics. Nothing. Called the doctor telling them the cough was still present. Stronger antibiotics. Nothing. New doctor, new visit and given 2 antibiotic injections in my booty, steroids, zpak. Felt a little better, but still coughing. More antibiotics prescribed. Nothing. Next came a visit with a top pulmonologist but who mostly only treats children. Breathing tests, sputum culture (which was negative-come to find out, they didn't test for P.A.). They sent me to a top adult pulmonologist for a bronchoscopy (6 months after hot tub visit). The new pulmonologist didn't want to do a bronch on me, instead asking a few questions (did I play sports growing up? Yes. Ever any breathing issues, shortness of breath etc? No.) diagnosis- asthma and acid reflux. What the?! New meds didn't do a thing. Went back to first pulmonologist/asthma/allergy specialist because it was mentioned I could have allergies. Allergy testing done. Suddenly I have allergies that I've never had symptoms for, so I was given allergy meds. I asked if all of these diagnoses cause green mucous. "Not really." So, I knew it was something else. After 15 months of being misdiagnosed, 7 rounds of antibiotics, acid reflux meds, asthma inhaler, allergy meds later, I flew up to the Mayo clinic for real answers. Diagnosed with pseudomonas and scheduled for a bronchoscopy immediately. Entire left bronch tube filled with phlegm. I was given a schedule of 3 months of levaquin and then to return for a check up. The levaquin helped the first month, then nothing. Went back to mayo clinic after 3 months and had further genetics testing, scans, and it was decided to go through IV antibiotics. Sweat test completed and came back negative (31/36). Had a Picc line placed and flew back home. Genetics test came back and I have 5T gene and Delta F508, which the geneticist stated symptoms and testing do not fit clinical criteria of CF.
After IV antibiotics, I was cleared of pseudomonas, but still coughing which ultimately lead the doctors to the CF diagnosis. I'm still in denial =D. I do not have any other symptoms but 2.5 years after catching pseudomonas from a hot tub, I'm still coughing. My sinuses/nasal passages checked out great, pancreas is excellent, all blood work is great, and I've never had breathing/coughing issues until this. From what I've read in my research, adults diagnosed with CF have had some sort of issues since childhood which leads me to my denial =D. Mayo Clinic released me to be cared for under UNC which is closer to home. I've been twice and they forgot me BOTH times in the patient room for one hour. Both times! Not impressed =)

Thank you for reading my story!

I don't understand why your geneticist told you the results were not conclusive? I too, was diagnosed as an adult. I was 38. I only have 1 identified gene (which is a rare one L205W) and 1 unidentified, yet I was diagnosed CF right away. My hope is that you're getting full access to treatments. I have to travel 2 hours to go to a certified CF clinic, but it's well worth it.

Thank you for sharing!

 

[Printer]

Krystin:

I was diagnosed at age 47, Up to that time no Doctor, that I had seen, could detect any CF symptoms. A couple of things, you need to be seen by a CF Specialist at an approved CF Center. Mayo is an approved CF Center but very few of the Doctors are CF Specialists. Genetic testing is applied on several levels, newborns are tested for the 32 most common mutations, 100 is usually the next step, followed by 250. A FULL CYSTIC FIBROSIS SEQUENCING is for about 2000 mutations. You do the math.

Bill

 

[Krysm3]

Exercise has worked best for me. UNC put me on a regimine of running daily, but the days I can't, I nebulize saline. mayo gave me an acapella, but it didn't do much. UNC gave me an Aerobika and I love it!

I have no vitamin deficiencies and my pancreas is working normally.

Mayo clinic did do a full CF sequencing. The geneticist stated in the paperwork:

Briefly, Ms. symptoms are somewhat suspicious for cystic fibrosis although they do not fully fit clinical criteria. This patient has had chronic cough since 2012. She was treated with multiple oral antibiotics + prednisone and nebulized budesonide and sodium chloride. Her symptoms have persisted throughout treatments. A first chest CT showed mucoid impaction and micronodular disease; a second chest CT showed mucous plugging, bronchial wall thickening not characteristic of CF.
A bronchoscopy was performed and revealed pseudomonas aeruginosa, wildly sensitive. Finally, the pulmonary function test revealed nonspecific pattern without bronchodilator response. Sweat chlorides are normal. There is no family history of CF.
The genetics results are, unfortunately, also unclear. The patient is at least a carrier of CF due to the presence of the DeltaF508 deletion. Additionally, the presence of the 5T allele in Trans increases the likelihood of a diagnosis of CF but neither proves nor excludes it. 5T alleles are polymorphisms found in the general population that have been associated with various CF-like diagnoses (CFTR-related disorders refer to a distinct spectrum of nonlethal diseases associated with mutations in the CFTR gene. An example of a CFTR-related disorder is congenital absence of the vas deferens (CAVD), the primary manifestation of which is male infertility).

In summary, at this time Ms. does not have a true diagnosis of Cystic Fibrosis, but her symptoms may be related to the mutation and polymorphism found in the CFTR gene. Ms. should be followed by doctors who are familiar with Cystic Fibrosis.

Last week, I decided I needed a relationship with a pulmonologist in my city in addition to traveling 3hrs away to an approved CF center. This new doctor seems to think that since I am still coughing (very productively) that I still have something growing in my lungs. I'm a little confused because I thought if you have CF, you are always coughing up mucous, but they constantly culture it for bacteria. Is it not normal to constantly be coughing?

 

[Printer]

Krystin:

In my case, my cough is triggered by loose mucus or by an irritation caused by pollen. I cough more in the early morning and much less as the day goes on. Daily treatments of saline may loosen your mucus. It loosens mine. Seeing your "local Doctor" will be fine but you should be seen at the CF Clinic every three months. Trust me when I tell you that CF works at its own progression and your local pulmonologist is not trained to treat CF. I learned this the hard way.

There are almost 2000 known mutations with 2 mutations being required to have CF. 2000 X 2000= 4,000,000 possible combinations of mutations causing this disease. Therefore, it is virtually impossible to directly compare your situation to another (so called standard) CF patient.

Bill

 

[JustaCFmom]

QUOTE Is it not normal to constantly be coughing?

My kids' norm is NOT COUGHING, really! My daughter coughed a year straight, until her diagnosis; but with the proper treatment, she stopped coughing within a couple of months. [It required antibiotics, CPT and regular inhaltion to get there.] They have learned to clear out their lungs daily and they only cough when they have an exacerbation. I suppose once someone is much sicker then they would cough regularly.

 

[Krysm3]

Oh wow! My sputum culture after my picc line last summer came back negative, but I have been coughing non stop since I was infected with pseudomonas in December 2012. It's not nearly as bad as it was, but it's a lot of productive coughing.

QUOTE Is it not normal to constantly be coughing?

My kids' norm is NOT COUGHING, really! My daughter coughed a year straight, until her diagnosis; but with the proper treatment, she stopped coughing within a couple of months. [It required antibiotics, CPT and regular inhaltion to get there.] They have learned to clear out their lungs daily and they only cough when they have an exacerbation. I suppose once someone is much sicker then they would cough regularly.

 

[JustaCFmom]

I will add that another child, not even a carrier, coughed her way through an entire winter. I think the main issue was post nasal drip. I have also learned that sinusitis can cause coughing. Are you sure that all this is just from your lungs?

 

[Krysm3]

I will add that another child, not even a carrier, coughed her way through an entire winter. I think the main issue was post nasal drip. I have also learned that sinusitis can cause coughing. Are you sure that all this is just from your lungs?

Yes, just from my lungs and I can feel it too. Everything else has been clear and I've never had sinus issues either.

 

[Printer]

Trust me when I tell you, there is a major difference between coughing as a result of allergies, post nasal drip or just clearing your throat and bring up mucus from deep in your lungs. When you cough until you think that a lung will pop out, you would never again question the difference.

Bill

 

[Krysm3]

It's definitely in my lungs =). It's a deep hard cough. I broke a rib from coughing at the beginning of all of this =)

Trust me when I tell you, there is a major difference between coughing as a result of allergies, post nasal drip or just clearing your throat and bring up mucus from deep in your lungs. When you cough until you think that a lung will pop out, you would never again question the difference.

Bill

 

[sheilashera]

Wow. You ALL are so amazing and such a blessing ?

I will say it again "WOW".
Thank you all for being here, and being willing & able to share your experience. I have a story and will share soon. I have been a silent member for a while, but unfortunately not by choice. And I look forward to sharing my story, getting to know you all, give & get advice and learn from you !!
Peace & Blessing sending your way,
Sheila E