January 21, 2020 at 10:21 am #14417WilliamParticipant
I’m searching for answers and hoping for help from this community. Hopefully one day I can return the favor.
I’m William, 47, lifelong sufferer of…something…I have the Celiac alleles 2.5/8 and CFTR Delta F509.
Lungs are scarred from…something…but I’ve never had that explained. (Tried very hard…) My issues are endocrine-related and immune-related and they’re impacting my digestion and mental health in a way that’s alarming to me and others.
I’ve never been able to eat “normal people” food, subsisting for the last few years on broth, heavy cream, and meat. Now I can’t handle solid food and have lost 25+ pounds in a few short weeks. I am writing this because I left the ER just now and I’m still in the same difficult spot (with tens of thousands in billing, I’m quite sure, and a “report” that looks like it was filled in by a child in the other room who was not listening…in other words, I did not get the main answer I was looking for: Do I have CF or not?).
My question is this: How can I confirm or reject a CF diagnosis? I just got out of the ER and they tested my blood, X-ray-ed my chest, and CAT-scanned my abdomen. Other than confirming the lung scarring (first chest X-ray, in 1998, also showed scarring).
My Conclusion…Imperfect as it Is
CF explains everything rather perfectly when combined with Celiac. Celiac incites autoimmune response in digestive system, autoimmune response compromises CFTR in digestive system (and elsewhere?), decades later the system has some sort of major failure (brought on by some additional external stressor) resulting in CF with pancreatic insufficiency and intestinal obstruction.
CAT scan showed no intestinal obstruction; then again, I stopped eating most solid food sometime in December, because of nausea. (I’ve also flushed that portion of the system via enemas.)
CAT scan showed no issues with my organs which is good because I still want to use them! But I don’t think the negative result rules out CF with PI.
The hospital does not run sweat tests or trypsinogen assays and, in fact, they have no ability to test for CF, other than re-running the same genetic tests that (twice) told me I’m a carrier.
So I am happy and sad; happy to be out of the ER but sad because I will now have to continue my search for answers.
January 21, 2020 at 10:29 am #14419Bailey VincentKeymaster
William, wow, what a pickle you’re in. I am so sorry you’re dealing with this. I know that so many people struggle in the healthcare system for years trying to find answers, and that the feeling of “knowing something is wrong” when no one will listen is truly so scarring.
Although I am not a physician nor an expert, I can say that working with a CF clinic to get definitive answers is of course the best case scenario. CF centers know how to look for CF variants or lesser known mutations, as well as the sneakier impacts on the body that an ER doctor may not. In my experience, ERs are best for broken bones and acute issues (like if someone cut off your arm). If they can’t re-attach your arm… they are probably not going to probe for answers. You need a physician who wants to help find a diagnosis, or – in the least- a path to treatment that can improve your quality of life.
Even if your answer is not CF, you do deserve having someone truly search on your behalf. Everyone does. A CF center can run sweat tests, as well as genetic sequencing if they feel it’s called for. Of course, you can’t just walk into a CF clinic without being accepted, so your first step might be finding a really knowledgeable PCP who wants to help you find answers, and asking their opinion on what to do. They could refer you to a pulmonologist, who could perhaps refer you to a CF center.
It definitely is not an easy path to try to figure out poorly health, abut I always say “life is short”, so you might as well politely advocate and ask others to help find solutions along the way. Show up with documentation of your scarring and history. Express your need to be helped. And hopefully, with any luck, the right person will step up to do exactly that.
And, in the least, we are grateful you have a safe space to discuss your concerns with us here! So thank you for expressing them
January 21, 2020 at 5:10 pm #14422WilliamParticipant
You are very correct, Bailey. Thanks for the support!
January 23, 2020 at 10:28 am #14450Paul met DebbieParticipant
Hi William, good morning,
Sorry to hear of your situation. You might be interested in the following:
http://www.pnas.org/content/117/3/1621 that was brought under my intention through the dutch cystic fibrosis patients organisation ncfs.
This large study was published only two days ago, with the telltale title: “Cystic Fibrosis carriers are at increased risk for a wide range of cystic fibrosis- related conditions”.
It turns out that of 59 known cf related conditions, e.g. pancreatitis, male infertility, bronchiectasis, diabetes, constipation, cholelithiasis), cf carriers had a statistically significant increased risk to suffer from at least 57 of them.
Mind you, the absolute risk was overall still small, but nevertheless increased compared to healthy persons (non-carriers) and this is a surprising finding.
So, it is very wise to have your genome tested a.s.a.p. for all known cf-variations to establish whether or not you have cf. But even in case you “only” are carrier of the one F508del, it is not to be excluded that your complaints are related to this nevertheless. A cf clinic might even then be the place for you to find your best expert doctors.
Wishing you all the best,
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