Late/mild diagnosis?

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mcarthurlena

New member
I was just officially diagnosed a few months ago at age 30. I've always had asthma, weight problems, chronic sinusitis, allergies, and by the time I was 20, I had pretty severe bronchiactusis. For years they didn't know what was going on with me, but as more and more CF mutations were being discovered, my asthma doctor thought I'd better see the CF clinic and get tested. My sweat test was normal, but genetic testing found that I do have CF. My mutations are DF508 and 3737c>t (only the 2nd person to have this one). I have MAC, Pseudomonas, ABPA, and am pancreatic insufficient. As crummy as it is to have this disease, it's so nice to know the root of all of my health problems over the years, and I feel like I can start getting solutions to improve my health so I can be around for my two children! Thanks to everyone who posts their positive stories - they really inspire and uplift me!
 
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Charlene Phillmon

New member
Hi, It is great to have you with us!!! I am 52 years old and still trying to find answers......I am now normal weight, after being a little underweight most of my life...guess that happens when you get older. I have a wonderful appetite, and thankfully can eat just about anything I want. I am familiar with your early life story, mine is about the same. I was in hospital at 5 with pneumonia, had multiple cases of bronchitis and sinus infections, and was diagnosed with asthma. It wasn't too bad unless I really pushed myself exercising. I was not tested until I was 45 and in the hospital in June with Pneumonia. I had the sweat test and it was positive. I have been seeing a CF specialist ever since. I am in Florida and have a wonderful center, not sure where you are from, but hopefully you will have as good results and I have. I am on several meds, but I will say I have to do IV antibiotics about every 4 months to keep me healthy. It is well worth it. Hopefully you can get tested and if you do have it you can get a "tune-up" as we call it to help you get back to your "baseline". Then regular maintenance can keep you there. Best of luck with everything!
 
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Tracy390

Guest
I am 48 & just had 2 sweat tests come back positive & recently had genetic testing (results not back yet). I have a daughter with CF. She had a double lung transplant 7 years ago. I have had 4 bouts of pancreatitis which prompted the sweat tests. I also live in FL. What center do you go to & how do you like them? I am also trying to get answers but am getting frustrated because it's going so slow. I also have GI problems & my husband has always told me my skin is very salty. The GI Dr. who ordered the sweat tests & doesn't believe the results are correct. That's why I asked for the genetic testing.
 
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JustaCFmom

New member
I am the same age & did some testing when my kids got diagnosed over 2 years ago. First of all, I think adults have higher positive results, in general. I tested positive, but then thought it didn't mean too much because I have hypothyroidism. The doctor still retested me and we did genetic testing. I ended up positive as a carrier (no surprise if I have 3 kids with CF!! We did NOT do a complete genetic scan, so I don't know how much those results are truly worth. If you are doing genetic testing already, then the complete scan is the way to go! I did learn that pancreatitis is more common in carriers. (that wasn't my problem)

I hope you get your answers and feel better.

Tracy390 said:
I am 48 & just had 2 sweat tests come back positive & recently had genetic testing (results not back yet). I have a daughter with CF. She had a double lung transplant 7 years ago. I have had 4 bouts of pancreatitis which prompted the sweat tests. I also live in FL. What center do you go to & how do you like them? I am also trying to get answers but am getting frustrated because it's going so slow. I also have GI problems & my husband has always told me my skin is very salty. The GI Dr. who ordered the sweat tests & doesn't believe the results are correct. That's why I asked for the genetic testing.
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LunaFaith

New member
I'm 30, I got diagnosed in 2008, I'd been having breathing issues since high school. Honestly I never went to a doctor, no insurance and I'm not the type to run up bills I can't pay, I got disability in 2007 for my scoliosis, I had a 75° curve in my spine, my surgery was pushed back because I had fluid on my lungs, they speculated I had bronchitis, come to find out I had CF, unfortunately all those years before the diagnosis caused significant damage to my lungs, even now 6 years later I struggle to manage my condition....I hate there are no support groups, I could have used the help adjusting.
 
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CarsonClark

Guest
At the age of 5 I was diagnosed with asthma, but the treatments and symptoms never seemed to quite fit. At 20 I went to the Mayo Clinic and they started piecing it together. I have high salt content in my sweat, low sperm count, increased mucus, recurrent pneumonia, irregular stool, and skin quickly wrinkling under water. But when they sent my DNA off to Johns Hopkins they only found one of the two required genetic mutations. Ultimately the doctor diagnosed me with "variant, mild Cystic Fibrosis." It has been a strange experience. On the one hand, I've been fortunate enough that my symptoms were mild such that I could play college basketball. On the other hand, I couldn't finish the season because of pneumonia. Meanwhile, people who don't have CF don't get it and people with CF treat my condition as though it's not real. I say that not to complain--I count myself fortunate--but I do have this weird existence with "variant, mild CF." No one quite knows what to do with me.
 
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welshwitch

Guest
I totally relate to this video! I've been struggling all my life with the notion that this is a child's disease…here I am about to turn 35 and I am still functioning at a very healthy level! Cheers to the variation that is CF and strength and support to all of those living on either spectrum <3
 
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SmewyIsabewy

New member
My youngest daughter that just turned 16 in October became very ill in April with similar symptoms as you, she has always had allergies and allergy/exercised induced asthma. Well in April she started with a severe cough and would have these "attacks" ending up in the ER her allergist did a PFT and her FEV1 was only 49% which she said wasn't allergies nor asthma related she saw the pulm 3wk later and it dropped to 39% they did a bronchoscopy ct scans everything was off but they couldn't figure out what was wrong with her despite taking oral steroids, singular, proair, symbicort she kept drteriating she went down to 83lbs her FEV1 went down to 29% Childrens hospital ordered a sweat test and it was slightly abnormal so they did the genetic testing. All the while they didn't think she had CF but needed to rule it out. That's when she was diagnosed, her geneticist at children's performs the testing herself so they did the usual most common mutations and it was negative but with her being so sick and deterioting so quickly she decided to do a full CFTR gene sequencing and that is were they found her 3 mutations. All 3 mutations are extremely rare all occurring in less than 0.50% of the general population. They added the acapella to her regimen and it increased to 64% in 3wks then up to 100% by week 6!! While her lungs are doing well she has constant nausea dehydration, abdominal pain so they are finally referring her to the CF clinic, so if they have not done so yet you should have them do a full CFTR gene sequencing. She was also diagnosed with a rare genetic connective tissue disorder EDS which was causing her airways to collapse during her coughing turns out that's what those "attacks" were
 
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