Trying to find some answers.

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princesskinzy

New member
Hello everyone I am new to this forum. I am not sure where to begin, or if I just sound crazy...but is it true that CF can be mild and diagnosed in early adulthood? I am wondering because some of the symptoms just seem to describe me. I was supposed to get a sweat test done when I was in grade school because of my failure to thrive. I was not gaining any weight for quite sometime I have always been extremely short and thin for my age. I was seen by an endocrinologist and was tested for a range of things because of my failure to thrive. I was tested for celiac disease, but it came back negative. Endocrinologist had me get MRI's of my brain.... All that showed was mild chronic sinus disease. I was suppose to follow up with an ENT, never did. (this was around 8-10 years ago). Endocrinologist finally put me on growth hormone shots and I started gaining weight better and growing (I was only on them for a year) I am still super short and thin. Also something I have never shared with anyone is my BM's are weird they are inconsistent. (mine float to the top, I get constipated a lot, or it's the complete opposite) I have never told any doctor about this because I'm scared of what they are going to say. My mom always asks if my BM's are normal and I just nod and say yes, even though I know something is wrong:(
I have been having issues lately and recently switched primary care doctors...Chronic stuffy nose, chronic sore throat, chronic coughing (I end up gagging from coughing too much sometimes) So I was referred to an ENT and allergist. I have seen the ENT - got a scan of my sinuses- apparently I have had a chronic sinus infection - years and years of build up the ENT claimed. Nasal polyps in my nose and everything, so I recently had a sinus surgery. My lungs feel weird sometimes....like its a hurting feeling when I breathe sometimes. I'm just kind of used to it though.
Also, I have this weird thing when after I have been sweating a lot (either I have been out in the heat, or working out/exercising) I faint. It's really weird first time it happened I was 9 years old. Been to a million doctors they can't tell me why I faint, they just said to drink more water....

I know I should not keep stuff like my inconsistent BM to myself. I'm just really nervous to talk to my doctor about that issue. What should I do now? I made an appointment to see the allergist to hopefully rule out allergies and stuff, but does a Mild case of CF seem likely? Thanks for all the help:)
 
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welshwitch

Guest
YES!!! CF can be mild and diagnosed in adulthood! Please get yourself genetically tested for CF -- if you indeed have CF you will feel so much better with the right treatment!

<3
 
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Red9928

Guest
I had a host of respiratory problems as a child but no GI symptoms. At the time it was diagnosed as allergy and asthma but it never really helped explain the multiple pneumonias, sinus infections, and declining lung function. I was finally diagnosed with CF at age 40 and treatment has definitely helped me feel better! My sweat tests were negative, it took genetic testing to diagnosis me. I am in agreement with welshwitch, please talk to your doctors about getting genetic testing done, then you will know for sure!
 
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Red9928

Guest
One more thing, when you talk to your doctors, be vigilant, often doctors don't consider CF in older patients because they assume it would have been diagnosed as a young child, but I'm hoping that is starting to change...good luck and take care!
 
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AttyMom

New member
You definitely can be diagnosed at an older age. I was officially diagnosed at 31...and a person diagnosed at my CF clinic recently was 73!
 
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princesskinzy

New member
thanks everyone for replying. I'm just so nervous because the warning signs have been there. Should I tell my regular docs that one doctor suspected CF and I never followed up with it? I'm just really not sure what steps to take... my regular drs already think I'm crazy because I have been sick in their office so much this past year. they said they didn't know what to do with me anymore:( it's really annoying and frustrating. I just want to feel better. will they think I'm crazy if mention CF to them? that is what I'm scared of:(
 
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welshwitch

Guest
I'd say to push for a genetic (not sweat) test to test to see if you have 2 CF mutations. Anyone late diagnosed have any advice for her? I was diagnosed as a baby, so I don't have the experience of what it takes to get to this point. Especially if you had a doc suspect CF in the past and never followed up….
 
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erock77

Member
Why not start with a sweat test welshwitch? It sounds like she never actually got it.
Is your skin really salty after your sweat dries up? You shouldn't hide symptoms from your docs, their job is to help you feel better. If you're diagnosed w/ CF it could help you a lot, the treatments might be annoying but you'll feel better. Also the GI issues could be greatly helped. Did you ever see a GI doc? Some CF'ers also have predominantly GI issues, or mostly lung issues, but most of us have both.
 
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princesskinzy

New member
I am not sure... I thought everybody's sweat is supposed to be salty? My face and lips taste funny after I have been out sweating but this has always been the case.
I saw a GI doctor once when I was little when I was having failure to thrive (Before the GH shots)...The GI doctor told me I should be grateful of how small I am, and be thankful because a lot people are overweight and I was the complete opposite. My doctors now wanted to refer me to a new GI doctor... but they never did.
And I feel really bad about hiding the symptoms from my doctors and my mom :( I am just kind of embarrassed about my issues in the bathroom.
And For the lung issues. I don't seem to have them that bad. I mean I get my share of bronchitis (especially in cold/flu season but doctors said it's viral) and the cough lingers on for about two or three months. But other than that it's just really bad sinus issues and GI issues.
 
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welshwitch

Guest
I guess sweat test, genetic test, doesn't really matter as much as just starting the process to be diagnosed, or to rule out CF. You can do it :eek:
 
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Red9928

Guest
It would be good to ask for a referral to a CF center, I had a pulmonologist who I really liked and respected, but who was not at a CF center, she wasn't very helpful in obtaining testing for the full genetic panel. Testing outside of a CF center usually only includes the most common 25 or so mutations, my second mutation was only found when I was tested for all 1800 mutations. My local pulmonary doctor kept testing me for the same 25 and would tell me I did not have CF. After doing more of my own research, I realized I really needed to get to a CF clinic. My gut was right, I actually had a second, milder mutation. I also had two sweat tests that were negative, but genetic testing proved the CF diagnosis. Good luck, stick with it..... anyone else you can talk to about your symptoms, someone you trust and feel comfortable with, you really need some support with all this! When you approach your regular doc with your suspicions, go armed with specific data to support your concerns...e.g. GI symptoms, you were supposed to be tested but weren't, sinus polyps, later diagnosis, etc...
 
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becabee

New member
A sweat test very often comes out negative or borderline but that is usually the first step. However I would push for genetic testing and for ALL of the mutations not just the most common. My grandson has rare mutations and his sweat came out borderline and they tried to say he didn't have CF, My daughter pushed harder and they did the genetic testing and sure enough, 2 mutated genes. My daughter also has 2 genes but they insist she doesn't have it although, based on her health I think they are wrong.
 
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princesskinzy

New member
Update: I still don't have any answers :(
Yesterday I went to my regular doctors office because I have not been feeling well lately.
I have been throwing up sticky thick mucus a lot lately. My doctor just told me it was acid reflex.
It was so embarrassing I was in the waiting room and I kept coughing and then I told the ladies up front that I thought I was going to be sick they told me to go sit back down and gave me a trashcan.
So I started throwing up this thick mucus into the trashcan in front of everyone:( I'm so embarrassed. Then they immediately called my name to go see the doctor and I was still throwing up the mucus. My doctor just passed it off saying you probably just have acid reflex in your system. I think I'm going to switch doctors because they just really made me mad. They wouldn't even let me go to the bathroom to throw up...I had to do it in front of everyone. And it wasn't just yesterday I have been throwing up this mucus. This started in July - and has continued weekly... Just this past week it has gotten super bad.


Why am I throwing up this mucus?
At the doctor they did a throat culture and sent me home on antibiotics. We are still waiting for the culture results. I guess I have a caught a nasty bug though.
I'm still scared to talk to my doctors about a possible CF diagnosis...I'm still just not sure if I have it.
Any advice for me would be great thanks.
 
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nanny

New member
I agree that you should try for a genetic test if possible. Do you have a CF clinic in your area? Check out the CF Foundation Web site for locations. I don't know where AttyMom lives, but I was not diagnosed for certain until a week before my 73rd birthday - by a genetic test and only after another family member was diagnosed. Obviously my case is "mild," but when you are living with severe chronic sinus disease and eventually serious lung disease (and the digestive issues you have which I don't), it doesn't feel so mild. Get tested and you may then start to get the right treatments. They will help!
 
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AttyMom

New member
I get seen at Children's Hospital in Boston, Massachusetts. I was diagnosed through a genetic test with only a cheek swab...later followed-up by further testing with a blood sample.

I definitely agree with the recommendation that you have a genetic test done. I'd also switch doctors based on the circumstances you described.
 
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princesskinzy

New member
Update as of today: I Do NOT have CF.
Sweat test came back negative at 16 (R) and 14 (L)
I will however, continue to raise awareness about this horrible disease.
Blessings!
 
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Printer

Active member
I have CF and I never had a POSITIVE SWEAT TEST.

Listen to AttyMom. Only a FULL CF SEQUENCING will test for the almost 2000 known mutations.
 
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Printer

Active member
Princess:

It is important to understand that a real Sweat Test is only given by a trained CF Nurse or Doctor in a CF Clinic. My first sweat test, in a local hospital, was called a screening sweat test. I suspect that the reason that you are vomiting mucus, is because you are swallowing it. All of us with CF swallow mucus, if only in our sleep. Mucus mixes with digested food and will glue it self to the colon walls. This could be the reason for your bathroom issues.

You need to be seen at an APPROVED CF CLINIC by a CF SPECIALIST..If you will tell us the name of the largest, nearby, city, we will find that CF Clinic for you.

It is important to "get over" your embarrassment with your health issues. We have all been there, we understand and so will your Doctor. Maybe a female PCP would work better for you.

Bill
 
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