26, just diagnosed, advice/input/kind words welcome.

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Mike Brown

New member
Hey guys, whats up?

Here's my story....

For the past 6 months I've been having bad stomach problems, hard time keeping food or liquids down, throwing up after meals because I was too full, etc. I ended up losing around 40 lbs and just feeling not myself. I went to numerous doctors, got cat scans, and enoscopy, etc over the summer and basically they just gave me ppi meds for acid reflux and shrugged their shoulders. After months of the same story, I went to Robert Wood Johnson Hospital in New Brunswick. NJ and was emitted. I was there for about ten days, mostly running the same tests, but the doctors actually believed me that it wasn't acid reflux and something else, a different underlying problem. I eventually got an endoscopy done while I was in there that showed food still in my stomach and was diagnosed with gastroperesis. The day I was suppose to go home from the hospital one of the doctors on my case through out the idea of giving me a sweat test. Well you can guess what happened next and that's why I'm here. My results were 58 and 70 and apparently I cystic fibrosis and my pancreas have been causing all of these problems.

My question for you guys; is anyone familiar with or could direct me where I could learn more about CF variants? The doctor's never thought to check me for cf because of my age (26) and the fact I've never had any bad lung problems or hospital stints because of my lungs. So my question is, can you have CF and not have lung issues? My doctor told me that he blelives I have a rare mutation that is just being discovered where the CF only affects your pancreas (or vise versa, aka only one's lungs, depending on the mutation) I was wondering has anyone ever heard of this, anyone else have this sort of CF? Tried my luck on reddit, but they said it's pretty uncommon. I'd like to get some personal support/insight.

I have a follow up Thursday, I got a motility agent for my stomach and hopefully getting creon for my digestion and can start eating better and putting some weight back on. Just wanted to say hello, ask for some advice on my case, and also share it with everyone because I've been told its pretty uncommon and I hope that if anyone else is going through what I went through, that they can see this post and maybe it will help them get a diagnosis.

Thanks for reading
 
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jshet

New member
So Sorry you have been through so much. Its hard when you are sick and can't find out what is causing it. Sounds like they are finally on the right track. the fact that you are 26 and have had really no lung involvement is a great thing for you. It is actually amazing.
they may decide on thursday to repeat the sweat test because while 70 is a positive result, 58 is considered boderline. Typically a diagnoisis is given with 2 positive sweat teats. I would think they will also do some genetic testing looking for mutations.
i am no where near as versed as many on here, but i wanted to let you know this is a great group of people who will be aboe to offer you the best advice and support.
things can only get getter from here. Jshet
 
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AleksandraKaczynska

New member
hi, it happens in EU also. Many people have a late diagnosis. However the sweat test indicate it's still an open matter wether you do or not have cf. There are also cftr related symptooms, mild forms of cf you might say and also some peopple go on for years with some mutations with a working pancreas and only problems with sinuses. We where lucky to have our daughter's diagnosis at birth screaning casue she is such a child with working pancreas, borderline sweat test results and only problems w iher sinuse. She would go on for years without typical symptoms and no proper medicin. But in case of cf - when you know what your fighting makes a big difference. Think posiitive, casue your in good hands and it seem still in good health . As far a s sweat test result we are told thath anything below 30 is noramal, between 30 and 60 needs more testing, 60 and above means cf. But theses numbers are for kids - i have no idea how it goes for grown ups.
 
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Mike Brown

New member
Hey thanks for the replies! Yea, the doc mentioned the 58 is borderline and 70 is positive, but when asking about it he made it sound like he was pretty sure that in my case it was a positive testing. Will hopefully be getting more info this Thursday and will keep everyone updated. Just wanted to share my weird situation and say hello, the forum looks very active and everyone from what I've seen is very supportive, which is great. That's glad to here that your daughter has a mild case, I hope her a lifetime of symptom free living!

Is it possible to have CF of only the pancreas like they're saying? He said I would have had lung problems by now if I were going to have cf related lung problems, but that logic was a bit hard to understand considering my pancreas issue seemed to come out of the blue 26 years later, although I guess the pancreas is a different story.
 
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lsveburg

New member
Mike, may I ask if any of your tests indicated hepatosplenomegaly? We are only beginning the journey of cf but my son who is 21 has similar symptoms as you and his abdominal ct showed the enlargement of liver and spleen along with sludge in his gall bladder. Everyone I talk to can't believe cf can affect the GI system so it's good to have this forum.
 
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Mike Brown

New member
lsveburg said:
Mike, may I ask if any of your tests indicated hepatosplenomegaly? We are only beginning the journey of cf but my son who is 21 has similar symptoms as you and his abdominal ct showed the enlargement of liver and spleen along with sludge in his gall bladder. Everyone I talk to can't believe cf can affect the GI system so it's good to have this forum.
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Hey what's up? That I know of, nothing indicated any of that with my specific situation, but I did have some issues with those related organs. Not sure if related to the cf in anyway, but when I was at the hopsital, I had elevated indirect billirubin and also when I got my hida scan my gallbladder did not show up until they added the cck. Again, I have no word currently if one thing is causing the other since I'm still brand new to my diagnosis (not even sure the exact mutation yet) but it's worth mentioning. As far as no one believing cf affecting your gi tract, cant blame them, it took me a team of ten doctors and a med student throwing out a cf prognosis to get me a sweat test lol

But my symptoms were very extreme. I couldn't eat pretty much anything without throwing it up, not because of nausea, but because I felt so full that I could barely breathe. Also whenever I drank pretty much anything, even water, I would regurgitate it straight out of my mouth. I lost 40 lbs in 5 months because of how extremely bad it got. I would also burp a lot and have pain in my upper quadrants, it was very similar to gallbladder symptoms, but it ended up being my lack of pancreas enzymes and the cf caused gastroperesis as well, which is where your stomach muscles don't contract. I started taking a motility agent and have seen improvement already. It's not perfect, but I can eat and drink a lot better and keep things down. When i get the enzymes hopefully that will improve things even more.

If you have any questions feel free to respond or message me, I could even give you my email. It took me almost a year of hell to find out what was causing my symptoms and most doctors wrote me off saying it was all in my head. If it hadn't been for the fact I had no good days inbetween the bad ones, I would have believed them.

I hope good health finds your son and your fam!
 
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believingjesus

Banned
I'm glad you finally got a diagnosis so you can get the medicines and care you need. I'm sorry it was such a struggle trying to figure it out. I'm sure when you get your enzymes that they will be very beneficial to you and help you gain back some of your weight. My son is 25 - so close to your age. He is doing well. It is very nice to meet you!
 
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Aboveallislove

Super Moderator
Hey Mike,
Welcome! I'm sorry to hear of your diagnosis....it must be at first a relief to find out what's wrong but then a shock and if you've googled much lots of worry. The good news is that they know what is causing the problems you'll be doing so much better soon. Re the no lung issues. My understanding is that some folks have minor lung involvement and lots of GI stuff. Our son was diagnosed at less than two weeks and has horrible GI issues but no "mild CF" for lungs per the doctor, even though he has ddf508. That could change anytime. But it is possible especially with a "residual function" mutation which is what you likely have given your sweat tests. A few thoughts: 1) I don't think I'd push for re testing of the sweat level and in fact, I'd go with the "CF diagnosis" for one main reason--to find out what mutations you have. Insurance will fight paying for a full analysis of your genes without the CF diagnosis; and with the diagnosis the CFF has a program to find your genes. Finding what genes you have is VERY important because there are meds (one now one within 6 months) available that can "fix" the CFTR function. So .... if it were me, next appointment I'd ask the doctor to run test for your mutations so you know what they are. It might require what's called a Ambry test (there are nearly 2000 different mutations). Also, if they haven't done a throat culture or xray, maybe see if they can just to see if there is anything hidden in the lungs....it might be your lungs haven't been involved because you are very active/atheletic, live by the ocean, have a modifying gene....lots of possibilities. Good luck Mike!!!
 
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Tine Van Puyenbroeck

New member
Sorry to hear you got our heavy diagnosis of CF! But keep hope up, there are more and better medicins and follow-ups.
One thought ran through my mind: a late diagnosis can also mean a kinder variant of this disease. So I wish for you that you are helped out quickly and can live your life further to the fullest!
 
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ethan508

New member
For me CF always felt more like a GI issue growing up. The pulmonary stuff was there but background to the digestive issues. As such I was far more compliant with taking enzymes and eating right than I was with airway clearance. As I've aged I've become more aware of the pulmonary affects and more compliant with all my CF care. In contrast, my 2 sibling have far fewer GI issues (they take like 1/2 the enzymes I do, and managed to grow into tall muscly adults) but they did have some hospitalizations due to pulmonary exacerbations. It is interesting how CF can affect people differently even when they share the exact CF genes, and in the case of me and my brothers, share many other genes as well.

By being diagnosed (which sucks in general) you have an answer for the GI stuff but you also can track lung function and get the treatments/knowledge needed to keep your lungs in better condition than they might have become without treatment and tracking.
 
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Aboveallislove

Super Moderator
PS I also wanted to add that my understanding is that those who are pancreatic sufficient (i.e., the CF doesn't prevent the enzymes from the pancreas from getting into digestive tract), can later have issues because the pancreas "burns out" and then the enzymes and bicarbonits and everything else just stops working.
 
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believingjesus

Banned
Aboveallislove - what happens at that point? Is there anything that can be done at that point? I thought the enzymes replaced the pancreas anyways.
 
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believingjesus

Banned
That's okay. I can guess what would happen. I would like to share with you, Mike, some information I have found in my son sharing his precious life with me as his Mom. Do NOT believe everything the doctor says or what you read online or what you are afraid of. I believe in the power of prayer. When we found out my son was 4 1/2 years old. I was so afraid that he might not even live to be a teenager. My son lived his childhood fully and we did the best we knew at the time. He has never even had pneumonia and rarely gets the flu. He was basically healthy except for some sinus problems. My son is now 25 years old and has a lung function over 100%. What he does for a career most healthy people without CF do not do. He has achieved his childhood and lifelong dream and is living that right now. I don't know what the future holds but try not to live your life in fear of the unknown, as I have. I still get scared but I pray and I know Jesus hears my prayers. If you have a parent or a grandparent or a support group like a church or any other support group - that really helps. Do NOT linger on in any of the "bad" news. It rarely happens. Live your life a day at a time like every person on this earth should. Live fully and have fun and do all your treatments. That's my bit of advice - for whatever it is worth.
 
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MichaelL

New member
Cystic fibrosis can take different forms depending on a person's mutations. I was diagnosed at 34 after months of lung infections that wouldn't clear up. I am pancreatic sufficient, so lung issues were my main concern initially. I have seen others on this site that, like you, have the GI symptoms but not the lung issues.

I agree with the comment above that you should get a genetic test. My sweat tests come back negative (this is why I wasn't diagnosed as a child), but I don't know how many mutations are like this. With regards to genetic testing, I've seen comments on here that doctors sometimes only test the most common mutations to save money. Given your unique symptoms, you may have at least one uncommon mutation if you do have CF. It's useful to know your mutations so you can understand your particular case better. They've developed some promising new drugs that are currently approved for certain mutations.

This site is a good place to learn more about CF. I think it's a friendly and supportive site as well. However, it can also be discouraging or scary just learning about CF. Keep in mind that CF affects individuals differently, so your situation won't always match that of others.

Hopefully with further testing they can confirm CF or something else. Good luck!
 
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Mike Brown

New member
Hey guys, sorry I haven't been on this morning, but wow, thank you for all the replies! I've been reading everything you guys said and will take all the advice and support and if you need anything on always here to help and give back as well.

As far as the gene test, I will be getting it done for free via the program ran at John Hopkins. The doctor that diagnosed me actually recommended it to me, so I'll bring it up at the clinic on Thursday and get it going hopefully. Thanks for all the help and support all.
 
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Aboveallislove

Super Moderator
Oh Mike, I'm so glad....and it is reassuring the doctor recommended that as it shows you are in good hands. After writing back I realized you are my oldest nephews age and it made me think how hard it would be for him to have this "wham" at his age and station in life. I am so sorry, but you will feel so much better with proper treatment and given the late diagnosis and low sweat tests, I'm confident that you'll show some residual function mutations which will benefit by the drug already approved--(Kalydeco) and the combo of 661/Kalydeco, which has a trial revving up. So once you know your mutations, post and folks will help you understand in layman's terms what it all means. Hugs and prayers,
Love
 
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Mike Brown

New member
Aboveallislove said:
Oh Mike, I'm so glad....and it is reassuring the doctor recommended that as it shows you are in good hands. After writing back I realized you are my oldest nephews age and it made me think how hard it would be for him to have this "wham" at his age and station in life. I am so sorry, but you will feel so much better with proper treatment and given the late diagnosis and low sweat tests, I'm confident that you'll show some residual function mutations which will benefit by the drug already approved--(Kalydeco) and the combo of 661/Kalydeco, which has a trial revving up. So once you know your mutations, post and folks will help you understand in layman's terms what it all means. Hugs and prayers,
Love
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Thanks <3

In a weird way, im happy I was diagnosed because even with the erythmocilin for my gastroperesis and over the counter pancreas enzymes I'm seeing drastic imrovements when I eat and drink. It's not perfect yet, but I feel like I'm getting a part of my life back. I have domperidone on the way and Creon which are the 'real' meds, im hoping those bring me back to 100%. It was hell throwing up every day and far worse than facing I have cf, the way I look at it is I had it all this time anyway and it was causing me distress so now that I can treat it my quality of life should improve hopefully, in comparison to the last six months.

I will report back with my mutation and any other info I get on Thursday to help spread more knowledge. I've never had pneumonia and player sports all my life so hopefully my lungs are in good shape and I'll have that positive going for me.

Thanks again for everything everyone!
 
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