Jump to content
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Omg- I Got A Diagnosis!


Guest BERNESES

Recommended Posts

Guest BERNESES

Just wanted to let those of you who were following my thread about seeing a Celiac specialist- Dr. Cheney at Beth Israel Hospital in Boston- that it was worth it! She called me today with my test results from Prometheus.....

I have one of the HLA DQ genes (I forget which one) and as she said, due to my "exquisite" sensitivity to gluten and having the gene, I have now been diagnosed as having Celiac's. She won't make me go through the gluten challenge and another endoscopy just for the sake of a biopsy because it would make me too sick.

Just 8 days short of being gluten-free for a year!

I'm leaving (right now) for 5 days but I'll elaborate when I get back. Sounds strange, but what a freakin' relief!


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



Guest nini

YAYYYYYY!!!!!

Judyin Philly Enthusiast
Just wanted to let those of you who were following my thread about seeing a Celiac specialist- Dr. Cheney at Beth Israel Hospital in Boston- that it was worth it! She called me today with my test results from Prometheus.....

I have one of the HLA DQ genes (I forget which one) and as she said, due to my "exquisite" sensitivity to gluten and having the gene, I have now been diagnosed as having Celiac's. She won't make me go through the gluten challenge and another endoscopy just for the sake of a biopsy because it would make me too sick.

Just 8 days short of being gluten-free for a year!

I'm leaving (right now) for 5 days but I'll elaborate when I get back. Sounds strange, but what a freakin' relief!

Wow, I'm so happy for you to finally get results. This Dr. sounds like he/she has common sense like mine does.

congrats. Judy in philly

Carriefaith Enthusiast

That's great news! I'm glad to know that they can make a diagnosis based on the gene test and a positive dietary response. She sounds like a great doctor!

Claire Collaborator

How fortunate you are!

I know how disappointed I am every time I luck out - again. An answer is a blessing.

Maybe I need a trip to NE - lived there for many years before coming to PA.

So glad for you. Claire

lonewolf Collaborator

Yay! I'm happy for you to finally KNOW for sure. Now I hope she can help you with some of your other questions too - she sounds like a great doctor.

jenvan Collaborator

Rock on :)


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



jerseyangel Proficient

B--So glad to hear you finally got a concrete answer. Have a fun, safe trip--talk to you when you get back :)

debbiewil Rookie

Congratulations!

(And maybe I need a trip to NE also.)

Debbie

Rusla Enthusiast

Congratulations B!

I know that sounds funny to say but it is a relief to finally know what is wrong and how to fix the problem.

danikali Enthusiast

Congrats! And I mean it! I know EXACTLY how you feel! The same exact thing happened to me! I went to a million doctors, had negative blood tests, inconclusive biopsy, VERY POSITIVE DIET CHANGE and then I went to Dr. Green (the famous Columbia University Hospital Celiac Doctor) and he tested my genes, and finally, I got a confirmation of what I had suspected for a year! Just to hear a doctor tell me, yes, you have Celiac disease, is the best thing in the world! It really makes your day, I know!

Now your mind can be a little more at ease :rolleyes:

wolfie Enthusiast

That is awesome that you got a diganosis!

Jen H Contributor

Congrats on finding out the source of all your pain! You must be relieved to finally know what's going on.

hez Enthusiast

I am so happy for you :)

Hez

Judyin Philly Enthusiast
Just wanted to let those of you who were following my thread about seeing a Celiac specialist- Dr. Cheney at Beth Israel Hospital in Boston- that it was worth it! She called me today with my test results from Prometheus.....

I have one of the HLA DQ genes (I forget which one) and as she said, due to my "exquisite" sensitivity to gluten and having the gene, I have now been diagnosed as having Celiac's. She won't make me go through the gluten challenge and another endoscopy just for the sake of a biopsy because it would make me too sick.

Just 8 days short of being gluten-free for a year!

I'm leaving (right now) for 5 days but I'll elaborate when I get back. Sounds strange, but what a freakin' relief!

Question

I re read your post.

My insurance won't cover the gene test at this lab.

I have the packet a friend gave me.

I didn't get a whole celiac disease blood panel done even tho my internest ordered it.

Seems they didn't think the #'s were high enough but my dr thought i had it an wasn't happy cause now i'm 6 months gluten-free. GI ordered the gene test insurance won't pay for..do you think i should pay the $400 out of pocket to put my mind to rest...to me and my GI if the gluten-free diet is working I HAVE IT.

WELCOME BACK FROM YOUR TRIP.

Judy in Philly

TCA Contributor

Our GI found a way around the insurance. He sends them to Mayo and they forward it to Prometheus. I'm not sure how, but Bc/BS will pay this way. Check into it for your situation.

Also - we just had the same thing with my daughter. She's only 9 mos. and the other tests weren't started before and gluten-free diet. LONG story. But she was DQ2 positive, so they say it's most likely Celiac. We had my son (3) tested Monday and are awaiting the results. He had 2 elevated enzymes and 2 negative biopsies that showed "inflamation", but no villous atrophy. I'm so glad you too got some answers. I know how relieved you are.

Judyin Philly Enthusiast
Our GI found a way around the insurance. He sends them to Mayo and they forward it to Prometheus. I'm not sure how, but Bc/BS will pay this way. Check into it for your situation.

I'm sorry :blink: what is bc/bd mean :lol:

I'm calling him soon as I think my thyroid, what's left of it must be low again.

Thanks for the post and idea.

judy

Nantzie Collaborator

Congratulations!!!!

TCA Contributor
I'm sorry :blink: what is bc/bd mean :lol:

I'm calling him soon as I think my thyroid, what's left of it must be low again.

Thanks for the post and idea.

judy

BC/BS is blue cross blue shield. That's the insurance we have.

Hope you feel better soon!

Rachel--24 Collaborator

Judy,

Enterolab does the gene testing for $150. That sounds alot better than $400.

Judyin Philly Enthusiast
Judy,

Enterolab does the gene testing for $150. That sounds alot better than $400.

Thanks so much Rachel

I can handle that

have a great weekend.

j

Guest BERNESES

Thanks Everyone- it was a HUG relief (sounds silly, but it's true). I have the HLA DQ8 gene. But not the DQ2. I am just so relieved to know for sure (although it was pretty darn apparent anyway!)

Judy- If it will put your mind at ease, I would do the Enterolab testing for $150 but if it's good enough for you and your doctor that you are responding to the diet, then that might be good enough! I just wanted it done because I had issues that weren't resolving and i wanted to make sure that's what it was and proceed from there. Even if the tests were negative, I would have stayed gluten free anyway (for life!).

nikki-uk Enthusiast

So glad you finally got your 'official' dx.

I actually think it helps you a great deal psychologically once it's official.

Hope you are feeling ok ;)

celiac3270 Collaborator

Just saw this topic--Congrats! And at least we now know you'll still be posting and staying awhile. :)

Guest BERNESES

Thanks everyone- not like I was going anywhere regardless of what the tests said. i'd miss talking about BM's and smelly gas with you guys too much! :P

Archived

This topic is now archived and is closed to further replies.


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,904
    • Most Online (within 30 mins)
      7,748

    AnneSN
    Newest Member
    AnneSN
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • Xravith
      Yes, you are right. Indeed, I’ve been feeling anemic since the beginning of this week, and today I felt horrible during a lecture at the university, I was trembling a lot and felt all my body incredibly heavy, so I had to come back home. I’ll do a blood test tomorrow, but I’m just worried about the possibility of it coming back negative. I’ve been eating two cookies in the morning as my only source of gluten over the past two weeks—could that affect the final result?
    • trents
      Welcome to the forum, @Judy M! Yes, he definitely needs to continue eating gluten until the day of the endoscopy. Not sure why the GI doc advised otherwise but it was a bum steer.  Celiac disease has a genetic component but also an "epigenetic" component. Let me explain. There are two main genes that have been identified as providing the "potential" to develop "active" celiac disease. We know them as HLA-DQ 2.5 (aka, HLA-DQ 2) and HLA-DQ8. Without one or both of these genes it is highly unlikely that a person will develop celiac disease at some point in their life. About 40% of the general population carry one or both of these two genes but only about 1% of the population develops active celiac disease. Thus, possessing the genetic potential for celiac disease is far less than deterministic. Most who have the potential never develop the disease. In order for the potential to develop celiac disease to turn into active celiac disease, some triggering stress event or events must "turn on" the latent genes. This triggering stress event can be a viral infection, some other medical event, or even prolonged psychological/emotional trauma. This part of the equation is difficult to quantify but this is the epigenetic dimension of the disease. Epigenetics has to do with the influence that environmental factors and things not coded into the DNA itself have to do in "turning on" susceptible genes. And this is why celiac disease can develop at any stage of life. Celiac disease is an autoimmune condition (not a food allergy) that causes inflammation in the lining of the small bowel. The ingestion of gluten causes the body to attack the cells of this lining which, over time, damages and destroys them, impairing the body's ability to absorb nutrients since this is the part of the intestinal track responsible for nutrient absorption and also causing numerous other food sensitivities such as dairy/lactose intolerance. There is another gluten-related disorder known as NCGS (Non Celiac Gluten Sensitivity or just, "gluten sensitivity") that is not autoimmune in nature and which does not damage the small bowel lining. However, NCGS shares many of the same symptoms with celiac disease such as gas, bloating, and diarrhea. It is also much more common than celiac disease. There is no test for NCGS so, because they share common symptoms, celiac disease must first be ruled out through formal testing for celiac disease. This is where your husband is right now. It should also be said that some experts believe NCGS can transition into celiac disease. I hope this helps.
    • Judy M
      My husband has had lactose intolerance for his entire life (he's 68 yo).  So, he's used to gastro issues. But for the past year he's been experiencing bouts of diarrhea that last for hours.  He finally went to his gastroenterologist ... several blood tests ruled out other maladies, but his celiac results are suspect.  He is scheduled for an endoscopy and colonoscopy in 2 weeks.  He was told to eat "gluten free" until the tests!!!  I, and he know nothing about this "diet" much less how to navigate his in daily life!! The more I read, the more my head is spinning.  So I guess I have 2 questions.  First, I read on this website that prior to testing, eat gluten so as not to compromise the testing!  Is that true? His primary care doctor told him to eat gluten free prior to testing!  I'm so confused.  Second, I read that celiac disease is genetic or caused by other ways such as surgery.  No family history but Gall bladder removal 7 years ago, maybe?  But how in God's name does something like this crop up and now is so awful he can't go a day without worrying.  He still works in Manhattan and considers himself lucky if he gets there without incident!  Advice from those who know would be appreciated!!!!!!!!!!!!
    • Scott Adams
      You've done an excellent job of meticulously tracking the rash's unpredictable behavior, from its symmetrical spread and stubborn scabbing to the potential triggers you've identified, like the asthma medication and dietary changes. It's particularly telling that the rash seems to flare with wheat consumption, even though your initial blood test was negative—as you've noted, being off wheat before a test can sometimes lead to a false negative, and your description of the other symptoms—joint pain, brain fog, stomach issues—is very compelling. The symmetry of the rash is a crucial detail that often points toward an internal cause, such as an autoimmune response or a systemic reaction, rather than just an external irritant like a plant or mites. I hope your doctor tomorrow takes the time to listen carefully to all of this evidence you've gathered and works with you to find some real answers and effective relief. Don't be discouraged if the rash fluctuates; your detailed history is the most valuable tool you have for getting an accurate diagnosis.
    • Scott Adams
      In this case the beer is excellent, but for those who are super sensitive it is likely better to go the full gluten-free beer route. Lakefront Brewery (another sponsor!) has good gluten-free beer made without any gluten ingredients.
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.