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05-20-2011, 09:54 AM   #1
Crohn's Mom
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Undiagnosed Kids

I thought it may be a good idea to start a thread for the undiagnosed kids out there
the one for the adults seems to be quite informative, so maybe this one could help the parents out ??

As of right now, long story short, I have two sons (Austin age 16, and JJ age 13) who are both showing symptoms and currently undiagnosed.

Both of them are presenting differently, but they do have a lot of similar symptoms as well.

Austin's has come on quickly and out of the blue about 3 weeks ago.
It started with a jelly fish sting that I am guessing sent whatever was hiding in his system into over drive.
low grade fevers
LRQ pain
stomach pain after eating
extreme fatique
cough
loss of appetite
small weight loss (around 6-7 pounds so far)
history of mouth ulcers
intermittent diarrhea
some vomiting (minimal)

Austin also has a history of "allergic colitis" at birth due to milk and soy allergy that caused a lot of bleeding and mucous and failure to thrive. He had 2 colonoscopies before 6 months old that showed little tears (holes) throughout his intestines. He was treated with prednisone and put on a special formula until he was around 1.

I took him for blood tests already and so far what is showing is that his Mononucleosis is re-activated (he had a severe case when he was 4 that lasted around 6 months)
He went for his first GI visit this morning, and (thankfully??) his older sister has paved the way for him so things are moving rather quickly.
He is scheduled for an Upper GI and SBFT next Tuesday morning. ( they wanted to do it this coming week, but it is times for finals at high school so he can not miss any days)
He also has to do 4 separate stool sample tests which are looking for :
white cells
C. Diff
Blood
H. pylori (blood test was already negative for this)
O&P x3 ( ?? I have no idea what this is LOL)
C&S (?? or this one )
And also he will have an abdominal ultrasound on the same day as the Upper GI & SBFT

Doc also said after these results are in she will schedule an upper endoscopy and a colonoscopy.
There is a specific blood test to test for CD but she said at this stage it would be pointless to do because we still wouldn't know how to treat him even if it tests positive; that and it's not always reliable. (Gabrielle's was negative the first time they tested her~and look how that turned out!)

As for JJ:
His symptoms really started around last July 4th. He had an emergency appendectomy and the same "tummy ache" he had before the surgery is still there.
It has been progressively getting worse over the months.
He also has LRQ stomach pains, along with pains up in his right rib cage.
Heartburn
chronic (croupy) cough ( for 5 years)
constipation
diarrhea
intermittent low grade fevers
eczema (on his eyes that causes cracking and bleeding)
finger and toe nail "issues"
a strange sore on his lower right leg that hasn't healed in 10 months
fatigue (getting worse ... he slept 13 hours the other day and has been taking naps)
delayed puberty
and very short compared to his peers

He had blood work done in November of 2010 which looked "ok"
and again this past week that didn't look so good.
His pediatrician actually said that his blood work is definitely pointing towards CD, but also possibly Celiac's Disease as well.
JJ goes to see the ped GI on this coming Wednesday so I am assuming the course of testing will be very similar to Austins.


OH what a fun summer we're going to have in our home !

So whats everyone's story of how they are dealing with getting their kids diagnosed? OR already did?
Did you have similar tests done right away? Or did the doctor try and tell you they have a "flu" or "Chronic Mono" or whatever else ?
Do the doctors often make you feel like your an over reacting parent ? They sure do to me a lot! Although, I will give them credit for this last couple of weeks...they are paying attention this time around and not pushing me away. I will say their pediatrician was hesitant with Austin though and still trying to convince me it's just "mono" again ~ problem is...that's exactly how this started with Gabrielle! We spent 8 months going from doctor to doctor and them saying the same thing. I'm not willing to accept that diagnosis again for another child !
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DX: Crohn's 2/2010
and Austin (18)
DX: Crohn's 7/2013

Last edited by Crohn's Mom; 05-20-2011 at 10:32 AM.
05-20-2011, 03:07 PM   #2
dannysmom
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Hi Tracey!
I am glad you started this! I was thinking of it the other day and was thrilled to see it! I am glad you are getting more attention for your sons. You would think that with a sister with Crohn's you would not need to push.

I do not know what some of those stool tests are, but will try and research them. Danny has had very limited stool studies done. His story is on the link in my signature. He has been sick for about 2.5 years now and I feel like we are right back at square one ... but exhausted a lot of doctors. I have 3 children too. (Rob 18, Heather 17, Danny 14). Rob has other health problems too. It is not easy have sick children!
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05-20-2011, 04:23 PM   #3
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Hey Jeanne, how's Danny doing now? Is there still no definite dx? CF or crohns?
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05-20-2011, 04:31 PM   #4
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Hi Jeanne

I just read your story, and wow your son has really been put through it ! So sorry

I"m wondering the same as Dex...are you any closer to a diagnosis?

Your story reminded me of when JJ's cough first started about 5 years ago, that's one of the first things we had to do was to get him the sweat test for CF. Scared the crap out of me quite frankly! It did come back negative, although he still has that weird cough to this day. Maybe after all of his testing we will finally have an answer to his cough at least.

Can't wait to hear an update from you!
05-20-2011, 04:46 PM   #5
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Sarah went undiagnosed for about 18 months and this is her story:

Sarah didn't have all the normal tests during lead up to her surgery, she has never had a colonoscopy, pill cam or endoscopy. I think her age coupled with her symptoms never lead anyone to believe she had IBD. Her symptoms only became regular about 6 months out from diagnosis and frequent within about 2 months and by frequent I mean about once a week. She never had diarrhoea or bleeding and all her pain was literally around her stomach coupled most of the time with vomiting, headaches and sore eyes. This lead her diagnosis of Abdominal Migraine. She did have weight loss. Right up until the night before surgery all her blood results returned normal, except when they did pancreatic enzymes, including CRP and ESR, stool specimens were normal, urine specimens normal.

About 10 days before surgery she had a fall at school about 2 days later her pain changed to her right kidney region and down her back. It became extreme and we took her to the doctor and he ordered an ultrasound of her kidney. Of course everyone thought it was related to the fall even though she didn't hurt herself at the time. The ultrasound indicated she may have a PUJ obstruction because the pelvis of the kidney was so swollen, it also showed fluid in the pouch of douglas that they put down to a burst ovarian follicle when I asked about it. That was followed up by a nuclear scan which showed slowing in the emptying of the kidney but no structural abnormalities. That night her pain became extreme generalised abdo pain and the doctor came during the night and gave her morphine and in the morning we took her to hospital.

They couldn't find anything obvious so the casualty doc did pancreatic enzymes, just on spec, and they returned a very high reading and they thought they had hit the nail on the head and admitted her for Pancreatitis. The next day those levels were back to normal again. She was kept on NBM and morphine and things seemed to settle again and she was sent for a CT scan with IV and barium contrast and that came back completely normal so she was discharged. Within a day the pain was back and over the next four days along with the pain she developed vomiting and a fever so back to the hospital and this time the bloods showed she was septic. They took her to theatre thinking they would do an appendectomy and laparotomy but when they opened her up her bowel was perforated and infarcted and in the surgeons words, it was an absolute mess with pus everywhere. So she ended up with a Right Hemicolectomy, removing 59cms of small bowel and 9cms of large bowel. The surgeon told me when he spoke to me in recovery that it was Crohns.

Obviously the fluid in the pouch of douglas was pus all along. I don't know if her high pain threshold masked symptoms but I really think it did, she just didn't present as ill as she really was. The whole time pre op her pain was never above 7, she just didn't complain and I know part of it was she didn't want to be a bother. It breaks my heart to think back on it.

As to the normal test results, well they couldn't explain that but the one that really stumped them and they couldn't get a handle on was the CT scan. They could not believe that it was normal and within a week they opened her up and saw what they did. I guess the only explanation is they weren't able to fully visualise the terminal ileum. It wasn't until the day before she went into hospital the second time that a distant relation rang and told me she had Crohns and it took them 4 years to diagnose her. I started to google and things fell into place. At least when I saw the surgeon and paediatrician the next day I was armed with enough info to say to them - she is not leaving until you prove to me it isn't Crohns!

Matt on the other hand was diagnosed super quick...Sarah's legacy...

One week of a couple of random vomits and feeling nauseous. I then asked the GP to do bloods for inflammatory markers, CRP was raised. The bloods were repeated the following week and CRP was higher. The GP could feel a mass in the RLQ so sent him for an urgent ultrasound. It showed free fluid in the abdomen but nothing of great note. In the meantime the GP rang Sarah's GI and he asked for the ultrasound to be repeated, it showed thickening of the terminal ileum. The GP arranged with the GI for an urgent colonoscopy and endoscopy and following the procedure the GI called me in and told me had Crohns. He went a CT Entrerogram the next day to confirm the extent of the disease. From the time of the first blood test to diagnosis was 2 weeks.

Dusty.
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05-20-2011, 04:55 PM   #6
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Every time I read Sarah's story I'm amazed and frankly a little frightened by it! What may be going on w/o notice scares the s%&t out of me!
05-20-2011, 05:05 PM   #7
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Ditto Dex !

Thanks for sharing again Dusty, I know how hard that is for you to relive it
05-20-2011, 06:03 PM   #8
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Tracey, Lucas had eczema on his eyelid causing cracking and bleeding, and delayed puberty, and smallest in class. He switched back and forth from constipation/diarrhea and has had on and off low grade fevers since he was 1.5 years old. Weird how similar the symptoms are to JJ's. O&v is ova and parasites. Bugs and eggs. C&S is culture and sensitivity. If its bacteria, what antibiotic will work best on it. So sorry about your boys but hope you get answers soon. Dusty, you are amazing and strong. What more can I say.
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05-20-2011, 06:16 PM   #9
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Wow Rachel!

I'm going to have to tell JJ about this! We have never known anyone else to have the eczema on the eyes like him!
And yes, it is very strange that the symptoms are so very similar
I've been telling the poor kid for years...don't worry sweetie you WILL grow some day...I promise !

Thank you for that information too...makes sense now!
05-21-2011, 06:40 PM   #10
dannysmom
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Thanks Mark and Tracy for asking about Danny. And Dusty - thank you too for sharing so much!

We are pretty much done with the CF testing now. It took a little over 3 months to complete and 2 CF Centers agree he does not have CF. Full gene testing for CFTR did not show any known mutations, just a mild variation. We even went to Johns Hopkins for a nasal potential difference which came back basically normal. The dx of CF came with mixed feelings ... as did the reversal. So we do not know why he had 4 positive sweat tests. We had some endocrine testing done (looking for Addison's disease) but the endo thinks he looks fine. I tried to push for more comprehensive tests since his aldosterone was low, but she would not order them. A bronchoscopy showed inflammation and mucus in his lungs; he did not culture bacteria (good) but did culture Candida Albicans. Last fall Danny tried cipro/flagyl for about 2 months and then vancomycin for another 2 months. The coughing up bloody mucus started about 2 weeks into the vancomycin. I am thinking that the antibiotics may have created a situation where the Candida got out of control. Danny has had diarrhea daily since January (and 2-3 times each night). He also has had a headache since October.

Our main GI (at Columbia) told us when we first met that he thought Danny had something beyond what current medical practice can dx and thought we needed to think out of the box. We've had 2 other GI opinions (last one at Johns Hopkins) and they both thought Danny should have his colonoscopy repeated to biopsy his ileum. They did not think the mild inflammation found in his first colonoscopy was significant enough to match Danny's level of debilitation. Thye also say that if they do not dx Crohn's, then they would likely dx IBS and recommend cognative therapy to get Danny functioning better.

I really do not think cognative therapy is enough to get my son feeling better again. He has always been a very active, funny, totally-not-shy kid. He loved school - got all A's.

I am not sure what we are going to do next. Our next GI appointment is June 7.
Sorry for the ramble!
It is really nice to have other parents to talk to!
05-21-2011, 07:12 PM   #11
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Oh Jeanne, what a tough time for you and your little guy...

Interesting about the Candida Albicans as many here attest to this infection having an affect on their Crohns, whether as a proposed cause or creating problems once diagnosed.

I don't disagree with the doc saying to think outside box but with so many here facing and having faced such lengthy diagnostic periods you may not have to look that far out of the box. I think most people that don't present with classic symptoms, and with normal blood results, particularly in children, being not uncommon either so many fall through the cracks. He may well be right but I think far more extensive testing needs to be done.

I agree with the colonoscopy being repeated but it will only be of use if the inflammation is where it can be visualised by a scope. I would also push for ultrasound and some sort of imaging to be done...CT/MRI Scan or Enterography and if need be and it is safe a pill cam. If there are any structural changes at all...thickening, narrowing, etc...do not accept the diagnosis of IBS alone, IBS does not cause structural changes. IBS and IBD can co exist but IBD is the one that causes the structural change.

I don't need to tell you that this disease can be a nightmare when it comes to solid answers. Matt has just had surgery and his path report with all the tell tale visual signs of Crohns still said there wasn't convincing evidence for it! I think it was the absence of granuloma's but hey not everyone has those either.

You know your son better than any doctor and if you aren't satisfied with the one you dealing with then seek a second, third, fourth or how ever many it takes opinions until you have the answers you need.

Good luck with your appointment on the 7th June and please keep us posted on how you are both doing. I hope Danny finds answers and relief soon!

Much love,
Dusty. xxxxxxxx
05-21-2011, 07:57 PM   #12
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I really feel for kids who have crohn's and UC... I knew a kid years ago in my church youth group who had it bad and had surgery like at 13 or 14. He had problems for years prior to that. I know how scary IBD can be for adults, can you imagine for a child? One good thing is that you are knowledgeable about the disease so if they do have it diagnosis will likely be less complicated. I wish the best for everyone that has a child with IBD!

Is there a thread or could you research information on how to help a child psychologically who may have IBD? It might be a good addition as well, think about the things they have to put up with at school, etc.
05-21-2011, 08:19 PM   #13
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What a great idea billyjoel!

And I here by nominate our famous Dusty to start it !!

All in favor ??

Ay!
05-21-2011, 08:40 PM   #14
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Somebody just got volunTOLD!!!! Hahaha!
05-22-2011, 07:05 AM   #15
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And of course, that's just what Dusty did!!

Thanks Jeanne! I know you're feeling so tied up without a solid dx! Good luck on the 7th!! Let us know!!
05-22-2011, 03:58 PM   #16
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Well, thank you billy! NOT!, 'cause I sure did get volunTOLD!

And as for you T, well, you'll get your comeuppance!

Dusty.
05-23-2011, 05:15 PM   #17
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Here come the fevers with Austin...99.9 today; and JJ's stomach ache/pain is becoming a non stop issue ... here we go
So glad I went ahead and started getting them into doctors sooner than later !


Dusty...I'm shaking !
05-23-2011, 06:48 PM   #18
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Tracy, sorry to here that

Just do your best to stay positive and upbeat because your attitude can affect their attitude and they will better manage if they stay upbeat
05-23-2011, 07:29 PM   #19
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Thanks Billy ! I am an overly positive person actually.
Yes, we all have moments, but mine are rarely ever a visible to my children or anyone.

The shaking comment was for the
And as for you T, well, you'll get your comeuppance!
from Dusty LOL
05-24-2011, 04:29 AM   #20
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Dusty...I'm shaking !
As you should be!!!

Oh man T, it doesn't rain, it bloody pours!...boo!

Kudos to you Mum for jumping on things quick, be sure and give the docs a run for their money mate. I so hope that things settle for your two guys and soon T...

Much love,
Dusty. xxxxxxxx
05-24-2011, 10:45 PM   #21
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I took Gab for her yearly physical today and decided to question the doc on a few other things while I was there. As I said yesterday, Austin is running fevers of 99-100 F. He is still running fever today and came home from school today and said that he basically slept through a couple of his classes and "just doesn't feel good". So I asked the doc if this was typical if indeed his problem was "just" the Mono reactivated. I explained that he is getting a little worse each day, and we are in process of having numerous GI tests done, but should I be worried? Do I need to have him evaluated again sooner? Before the tests are done ?
He then tells me that "we just don't know that much about Chronic Mono yet to be able to answer that question." WHAT ?!!? How can a doctor "diagnose" chronic Mono, and then a few days later tell me he just doesn't know ??
This just unfortunately leads me to believe that my first instincts are going to be right after all....this isn't Mono attacking my son AGAIN....it's Crohn's !
Am I jumping the gun? Maybe.

On another note, tomorrow morning is JJ's very first appointment with the pediatric GI. I am very interested to see what course of action she will take with him since his symptoms are so different from his brothers.

We're hanging in there tho!
05-25-2011, 02:36 AM   #22
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Argh!!! Bloody docs! Talk about do ya head in T.

Are you jumping the gun! No! No false starts as far as I'm concerned. You have too much history and too much experience on your side T to ever worry about that. Anyway, after all that Gabs has been through who gives a toss about jumping guns! . I said the same thing about Matt...I'm probably over reacting. I had a lot less to go on T and I sure as hell hope you don't have to live through this with one of your boys, let alone two, but you are doing what you are because you don't want a repeat of Gabs. Who in their right mind could deny you the right to put your mind at ease and in worst case scenario at least confirm your fears and move onto a treatment plan pronto.

Good with JJ's appointment hun. I am thinking of you, as always. Let us know how your boys are when you get the chance...

Much love,
Dusty. xxxxxxxx
05-25-2011, 04:45 AM   #23
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OK T, it is possible for parents to overreact (kid's sports comes to mind)! I don't think you could be too cautious when it comes to your kids' health!! No one can fault you for that!
05-25-2011, 06:37 AM   #24
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Dexky - lol - overreacting to kid's sports brings back memories!
Tracey - I would also ask that Crohn's be tested - he may very well have mono again (the IG blood tests did show activity again, right?) - but he may have something else too. Good luck with your testing!
Dusty - Thanks for all the new threads. I read about Matt's biopsies and could not believe what I was reading in your thread!! Danny had a pillcam last summer. The first one stayed in his stomach the entire 8 hours. A subsequent gastric empy study was completely normal. Then he had one endoscopically placed in his duodendum which saw something that could be a crohn's lesion or could be debris. If I had known debris could make results harder to interpret, I would have encouraged more cleansing. Danny was told only to not eat for 10 hours. I will ask about sonograms and MRIs again. Thanks
05-25-2011, 11:25 AM   #25
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Tracey - I would also ask that Crohn's be tested - he may very well have mono again (the IG blood tests did show activity again, right?) - but he may have something else too. Good luck with your testing!
Yes, his blood test definitely show reactivation again. However, this is exactly what happened to Gabrielle. We went from doctor to doctor for 8 months because they kept saying it's "just Mono", yet she continued to get sicker. So knowing that Austin had a severe case of Mono already when he was 4, that lasted nearly 6 months, I have a really hard time believing that it's "just Mono" with him. Understandable considering our family history...at least I think so LOL.

We just finished with JJ's first visit.
He is already scheduled for a upper endoscopy and a colonoscopy for Wednesday next week. So looks like I'll get to add another funny "horror" story to the other thread!
She took a look at his nails and the weird patch on his knee, and seems to think he has psoriasis, which she also said has a tendency to go hand and hand with IBD. So, she's happy that I already have an appointment with the dermatologist scheduled, and she's interested to see what he has to say.

Dusty...I thought you may find this amusing (or not)....When JJ was telling her about his stomach aches and headaches she say's....you know it could just be Abdominal Migraines ! Of course the first thing I thought of was Roo !

Anyhow, we are on our way to finding out one way or the other what is up with the little guy. And oh yeah...I almost forgot ... he is only a little under the 25% in height for his age group. I knew it wasn't my imagination that nick named him "midget".

Hope everyones having a great day!
05-25-2011, 02:59 PM   #26
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I almost forgot...

the doc was going over JJ's blood tests and said she's pretty positive that he does not have Celiacs Disease. Then she said "Did you know there is research being done now that is saying that Celiacs is being classified as IBD??"

Interesting...

Has anyone else heard this ? Or seen articles or research ?
05-25-2011, 09:51 PM   #27
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T - I'm glad you went. Lots and lots of prayers.......sigh. I want nothing but good news for your family!

But, like me, I can tell you can deal with anything if you have a diagnosis and plan.

Big Love, (Not the TV show lol)

J.
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05-25-2011, 10:12 PM   #28
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J ~ That's exactly how I feel!
It is very calming to me to know that there is at least a plan for diagnosis in place for both of the boys right now. The doctors are listening, and moving very quickly. I am so grateful for that.

Big Love right back to ya ! (and I used to like that show! LOL)
05-26-2011, 05:37 AM   #29
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Noooooooooooo, not Abdominal Migraine!

It's great to hear that things are getting done pronto for JJ, even if it does mean the old silver stallion! Yikes!

Holy cow T, you have so much going on with your kids your head must be fair spinning!

Sending you and your kiddos all the luck in the world buddy...
Dusty. xxxxxxxx
05-26-2011, 05:45 AM   #30
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I almost forgot...

the doc was going over JJ's blood tests and said she's pretty positive that he does not have Celiacs Disease. Then she said "Did you know there is research being done now that is saying that Celiacs is being classified as IBD??"

Interesting...

Has anyone else heard this ? Or seen articles or research ?
I haven't heard of it being classified as IBD. I know that they classify it as an autoimmune disorder and I have read a few articles that all seem to refer back to the one study. The study, as far as I can ascertain, concludes that if you have Coeliac Disease you have a ten fold chance of having IBD as well. On the other hand, if You have IBD your chance of developing Coeliac Disease is no different to people that don't have IBD. Don't quote me on this 'cause I may have it all arse about!

Dusty.
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