Misdiagnosis?

[tiffanymarie316]

So my family doctor diagnosed my mom with gastric reflux several years ago. When she was pregnant with my younger brother, she found out she had CF. Now he's telling me I have gastric reflux. He won't schedule a sweat test, maybe I'm just overreacting? Can gastric reflux be in any way related to CF? Or maybe mistaken for CF? Sorry I've just been sick for so long and I'm tired of going back and forth and getting different diagnosises, I want to know for sure what's wrong with me so that I can get treatment that will actually help. I'm just tired.

 

[ethan508]

A decent percentage of folks with CF also suffer with reflux. Do you have any other symptoms? Do you happen to know your mom's CF mutations? Seems like any child of a CF patient should be in running for a test. Maybe it is time to find a second Doctor to look at you.

 

[jaimers]

As Ethan said many cf patients have reflux issues. Based on your symptoms you mentioned in your previous thread and your mom's diagnosis I would defintely fight to get the testing. Usually it's not accurate unless it's done at an accredited CF center. Does your mom see a CF doctor? Perhaps ask her doctor what the next steps are for you to get the testing done. i would at least get a second opinion if the doctor is refusing to help you.

 

[Aboveallislove]

To jump on, yes reflux issues are very prevalent for those with CF. I'm confused though if your mom is being treated for CF or not because if she is, she'd have a clinic to try to discuss with. So I guess it would help to know: Is your mom currently treated for CF and if not, why? We might be able to give more practical help for what you can do to be tested if we understand more of the situation.

 

[tiffanymarie316]

My mom is not currently being treated. When she was diagnosed, she had no idea what it was and didn't look into it. She felt okay for the most part, but she knew it caused "the extra phlegm." I didn't even know until I got sick, almost two years ago, when she mentioned that maybe I had it too. Though she knew very little about it, she knew it was genetic. That's when I did my research, and it brought me here.

 

[tiffanymarie316]

Though as I've learned about the symptoms, I definitely see them in my mom, but she has it milder than most people it seems

 

[Aboveallislove]

Dear Tiffany,

First, there might be a miscommunication going on between what your mom was told or what she told you. Many women when pregnant are tested to see if they are carriers of the CF gene. She might have been told she was a carrier and misunderstood that, thinking she was diagnosed with CF. Or maybe you misunderstood what she said. So the first question to find out is whether she was told she was a carrier or she had some specific test for CF.

The reason your doctor likely isn't taking the idea seriously is if someone is diagnosed with CF, they are treated. It's not just a "oh, I have this disease" kinda thing. It well could be she has such a mild case she has had issues but have been fine without treatment, but a doctor is going to find that hard to believe because most doctors only know of the "typical" CF cases. So, in order to get the doctor (this one or another) to take you concern seriously, you'll need to get your mom to help. If she was diagnosed with CF (and not merely told she was a carrier), then you need her to get her medical records, find out how she was diagnosed (genetics, sweat test), where and then get back to an accredited CF clinic for another "diagnosis" to give your doctor; and at the same time in getting that diagnosis, she could work with that CF Center to discuss how to get you tested. Note: Just because your mom has CF doesn't mean you have it. Your father would need to also be a carriers, and then it is a 50/50 shot if she has CF.

If she was merely a carrier, then you want to know that too and the specific mutation because even if she doesn't have CF, but is only a carrier, you would then have a 25% of having it IF your father is a carrier. You doctor may be more open to testing if you are able to clarify that she is a carrier and that you do/don't know re your father, but that there are many cases of late diagnosis. For this later point, you'll want something to show the doctor or refer him to.

But first, please follow up on the above and then repost and we'll all try to help you get a game plan.

 

[tiffanymarie316]

Thank you so much this gives me somewhere to start I appreciate your help and I will get started on this as soon as possible. Thank you!

 

[Jennyvb17]

It is also important to remember that if your dad isn't a carrier, then there is no way for you to have cf. Even if your mom does have cf.

 

[LittleLab4CF]

Gastritis and GERD (GastroEsophageal Reflux Disease) were my early CF symptoms as it was with my CF father. If mom has CF, that alone is justifiable reason to have a sweat test. CF is a disease divided at the diaphragm. CF can be active in any wet organs, especially those with a "stem of grapes" structure like the lungs and pancreas. Mucous fluids in the respiratory and digestive tracts may be involved.

Most research and medical focus has been above the diaphragm and as such CF is generally perceived as a pulmonary disease, something respiratory and not GI. CFers probably don't see it that way but live with a dysfunctional gut. It is encouraging to note an increase in CF related research papers focusing on Pancreatic and GI CF. But, the perception that CF must include devastated lungs is too prevalent and incorrect.

For many CFers the pancreas is destroyed quickly as infants. For others it can take most of a lifetime which is miserable. The pancreas can produce for decades, declining suddenly or in fits and spurts. The relationship between gastritis/GERD and CF is established. Hydrochloric acid and chloride ion dysfunction usually results in gastritis. GERD can be serious beyond serious nausea and discomfort. Conversely the stomach acid could be too weak allowing bacterial overgrowth. An hydrogen breath test can confirm or eliminate any low acid. I make potent stomach acid. It takes a double dose of Dexalant, a powerful proton pump inhibitor, several Zantac and still I have reflux and more stomach acid than I need. This is not uncommon with CF and most GI problems are on the list.

I'm treated for gastritis and GERD, IBS, DIOS and a record case of chronic pancreatitis that shows no sign of exocrine sufficiency but produces enough digestive cocktail to cause pancreatic autodigestion daily. It had been four years since I've been hospitalized and my FEV1 is 106%. But CF has affected my lungs. I've got the classic barrel chest and hunched back from kyphosis. My lungs are replete with ground glass scarring, a type of whole lung scarring from repeated infection.

In retrospect I can't imagine how doctors missed diagnosing my CF for so long. Our world of medical specialists it is more limiting than expanding our quality of treatment and diagnosis. It's like pigeon holes where absolutely no communication and cooperation between birds is possible due to the self imposed restraints keeping within their specialist world. Who's left to think outside the box?

Persist or insist on being tested for CF. Personally I would have both the sweat test and complete genetic testing.

LL

 

[tiffanymarie316]

My dad isn't in the picture, so there's no way to find out if he's a carrier :/