Validation!

[rootofnewt]

I have an official diagnosis of celiac disease from a gastroenterologist.

There's no damage to my gut, which is normal--I've been GF for three years. They're basing the diagnosis on possibility (I have the genes often correlated with CD) and symptoms.

I do have erosive esophagitis and have been told to go back on PPIs. I can do that. *sigh*

They still want me to see an allergist to rule out some other issues relating to my esopagheal inflammation, but that's fine. I should have a local allergist, anyhow.

Still, though, it's so good to have my intuition *verified* by folks who are experts in the field. I'd been told it was likely by other specialists and have been considered "sprue-like" and have been advised to stay off gluten by my own GP, but this is excellent validation.

Nothing changes now. I'm still GF and will be for life. It does mean that relatives should know, since it's genetic. Having the genes doesn't mean one has CD, it just means that it can be triggered. And there's a tiny subset of folks with gluten-sensitive enteropathy who don't have the genes. It also means Ronan is at risk. And it means that close relatives who have regular bloodwork should include the celiac panel on a somewhat regular basis (1-3 years). (The panel can produce false negatives, but it's a start.)

I forgot to ask if I have both or just one of the genes. I'll call and ask for those results some other time. The doc did use the plural, but I didn't ask.

For those who don't get why I'm happy, I've been ill for over a decade. This is one of the puzzle pieces.

I feel like throwing a party.

Comments

[sajego.livejournal.com]

Yay for useful diagnoses and validation!

I totally understand how awful it is to have the doctors shrug or act like they've never seen anything like you before.

It seems like it's a good time to be GF because the awareness level is increasing all the time and it's a lot easier to find store-bought GF food. Well, a good time to be if you have to be... kind of like now being a good time to be deaf with all the increasing technology. :)

[datagoddess.livejournal.com]

I can imagine being happy about it - I damn near threw a party when I found out that my gall bladder was screwed up in a way that no test would show, FINALLY explaining the pain I've been living with for 20+ years. I wanted to kiss the surgeon for agreeing to take it out without any test results showing a problem.

*throws confetti for you*

[stmaybe.livejournal.com]

hurray for puzzle pieces *finally* making sense!

[nothingoth.livejournal.com]

Fantastic news (well, you know, in that sense of the puzzle piece)!

I like parties!

[circumspectly.livejournal.com]

FEZZES FOR ALL!!!

[xiane.livejournal.com]

Woooo! GF party canapes expected! :D

[girlghoul.livejournal.com]

Thank God they finally figured it out!!! I know how frustrating it is to be sick and not know why. I'm so happy to hear that you now know what is causing it. You've been in my prayers a lot lately. *hugs*

[mustelidmania.livejournal.com]

well, thank goodness for an official diagnosis.

[ashiegrrrl.livejournal.com]

YAY! for an official diagnosis!!

[ashbet]

I'm really glad to hear that you have a diagnosis -- here's hoping that it will help you get the treatment you need (and, honestly, I know what you mean about just having the validation being a victory in and of itself!)

Is there a way that they can test Ronan now, or would he have to wait until/if he experienced symptoms?

**hugshugs**

-- A <3

[krasota.livejournal.com]

I've been in the only treatment plan for three+ years: a gluten-free diet. I now have reason to request bone density scans if I want, though. The one I had last week put me at the low end of low normal--not low enough for osteopenia. I'm nursing, though, so it *should* be low. I'll probably request a scan a year after Ronan weans, but that may not happen for a few more years.

Ronan could be tested for the genes, but the genes just allow for the possibility. It has to be triggered, much like lupus or RA. If I have him tested for lead at one year, I might ask them to run the celiac gene testing. I won't ask for a blood draw just for this, because it's moot--the kid won't get gluten until he's completely off the boob.

And he'd have to be exposed to gluten to develop CD, too. That's not likely for several years.

[geeki.livejournal.com]

Is there any way to see if a later exposing to gluten could help keep him from developing celiac?

[krasota.livejournal.com]

it's all mixed. Nobody knows how or why autoimmune diseases are triggered. Trauma is sometimes involved. Hormonal changes. Randomness. The surest way to prevent it is to never let him have gluten. ;) But that's really not realistic. The thing is, even if he doesn't develop it as a kid, he can always develop it later.

[geeki.livejournal.com]

ugh.

At least with knowledge he is one step ahead...that's how I feel about diabetes in my life.

[krasota.livejournal.com]

He has an elevated risk for Type I diabetes, too, which scares me a hell of a lot more than CD.

[geeki.livejournal.com]

Eeek. Who has it or is it just due to the CD diagnosis?

I have like 90% chance of getting type2 at this point...

[crankles.livejournal.com]

I understand! That's great!

[absinthea.livejournal.com]

I'm glad you have the official diagnosis. It is so much better than all the "everything checks out fine, we don't know what is wrong with you" stuff you have heard over the years. I'm very proud of you for being proactive enough to take care of yourself by going GF.

[compostwormbin.livejournal.com]

I get it. People can treat you like you are crazy if they can't find anything wrong. I remember feeling crazy before finding my specialist. I hope with this knowledge you can do what you need to do and get the treatment you need to feel better.

*hugs*

[mmymoon.livejournal.com]

Isn't it funny how happy you ARE to have the official diagnosis? I totally, totally understand. It sounds almost silly to say the "I AM SO HAPPY TO HAVE THIS THING DEFINITIVELY WRONG WITH ME."

And it's totally awesome to have the PHOTOGRAPHIC evidence, no? "Look at my innards! They're all effed! FOR REAL!!!!" Ehehehehe.

You could make the party a masquerade where people dress up as their chronic health problems -- or, you know, if they're relatively healthy, their FAVORITE health issue.
"I am Jos's esopagheal inflammation."

;9

[twostepsfwd.livejournal.com]

Congrats?

I have an "official" diagnosis through less than usual means, too - My GI doc felt my symptoms and dietary response and inability to do a gluten challenge without being totally debilitated were clear enough to give me a diagnosis. It always feels weird to say I have a CD diagnosis, though, because I wasn't diagnosed by the usual means even though I was DX'ed by a very traditional doctor. So I still usually avoid saying I have CD because of the small chance that I am just severely gluten intolerant. I should get another gene test done... the first one was questionable.

Glad you got some answers, even if you already knew them.

[krasota.livejournal.com]

It does feel kinda weird, but if the year were 1980, your diagnosis would be as hard and fast as they come.

[twostepsfwd.livejournal.com]

Haha. Good point.

[azhure.livejournal.com]

I presume you went off PPIs while pregnant? Did you switch over to other meds or go without for that time? How was your reflux?

[krasota.livejournal.com]

I tried to go off of them, but the reflux pain was so severe I couldn't eat, drink, nor sleep. So I was on them. I tried to do a half dose (normal dose), but it wasn't enough.

The reflux was severe while pregnant and once the physiological reasons for heartburn were there later in the pregnancy, I was less than comfortable. I drank tons of small protein shakes and had to limit my diet severely (no sugars, starch, mint, etc).

[quasigeostrophy.livejournal.com]

Understandable. Have some gluten-free cake on me. ;-)

[hnybny.livejournal.com]

Diagnosis is definitely party worthy! Congrats!