New to this. Need advice. Undiagnosed child.

[boosmom]

Good morning,

I will start with my daughters recent history. She just turned 13.

October 2011 she began to have severe pain in her ankles. I attributed the pain to her sports activities. Appearance of bug-bite like sores on her shins that worsened through April.

January 2012-April 2012. Five episodes of fever 103+.

February-March. Two episodes of bright red blood with BM's.

April. 1-2 episodes of bright red blood with BM's per week. Pediatrician had stool sample run (negative, no blood in stool) and referred to PedGI.

PedGI suspected Crohn's based on symptoms and immediately hospitalized her for colonoscopy and upper endoscopy. Results were negative. Swollen lymphnodes in colon were present and 'constipation' 'diagnosed' in spite of regular 2x-8x per day BM's. She was put on a Miralax regime 1 1/2 cap per day and increased water.

June. 3 weeks after colonoscopy/endo, blood with BM returned 1-2x per week. Follow up x-ray showed the colon was full. "Clean-out' with Magnesium Citrate until clear was effective.

July. Joint pain spread to hip joints, so severe at time kid can't make it upstairs. Severe nausea, vomiting, and severe hiccups (lasting up to 8 hours). Regular BM's 2x-8x per day.

Follow up and another x-ray last week shows colon still full. Golytely clean out until clear effective. 2 days following this clean out, SEVERE bleeding with BM's 3x in one day and she can't get warm, is weak and exhausted. This is the worst it has ever been.

PedGI has run another series of blood tests for ANA, inflammation and not sure what else. When he first saw her with the leg sores (currently gone) he was 99% sure we were looking at Crohn's. Then he said constipation was the cause of everything due to biopsy from colon/endoscopy results. Now, as her symptoms are so 'text book' Crohn's maybe?

Is this typical? Can biopsy results be negative but the disease still present? How can someone be 'constipated' with regular, perhaps excessive BM's? She feels lousy and really wants to feel better! We have an emergency appointment on Tuesday am and I don't know what questions to ask to advocate for her.

The PedGI is well respected and I do have trust in him. They are not giving me a lot of info, I guess they don't want parents to use the internet to self-diagnose.

Any advice for a parent at the start of an IBD diagnosis will be greatly appreciated.

Thank you.

 

[dannysmom]

Hi and welcome. I really do not know the answers to your questions but I am sure will you get some very good replies here. IT is interesting her bowel is still full even given frequent bowel movements ... I will try to read up ont that. It is good you are getting some more testing done ... you may consider seeing a rheumatologist so they could thoroughly test for other diseases given the joint pain. What Crohn's related blood tests has she had? (ESR, CRP, antibody testing ASCA, ANCA, OmpC, CBir1 ...) Good luck. I hope you find some answers.

 

[my little penguin]

Also try rheumatology ....
Ask about periodic fever disorder .
Again not a doc so ask yours
They deal with a lot of auto immune stuff and the fevers + join pain etc...
Good luck

 

[boosmom]

Thank you!

I think the blood testing you mention was done on Friday. I will absolutely find out for sure. The GI jumped right to the colonoscopy/endoscopy based on the symptoms she presented with in April. It's troublesome that things seem to be getting worse rather than better, but from what I am learning, that is not unusual.

I'll request a referral for a rheumatologist as well.

Again, thank you.

 

[Patricia56]

Questions and suggestions:

1. How is her growth? Has her growth followed the normal growth curve in the past 2 years?

2. Has any imaging (besides the KUBs - xrays) been done or only scopes? Results?

3. Has he done a transit study? This is an xray study that estimates how fast stool moves through her gut and whether there are any spots that aren't working right.

4. I assume that pediatrician or ped GI have run labs - were there any abnormalities in the results?

Suggestions:

* Sounds like he may be evaluating her for lupus. If not, ask about this (very unlikely I think but still a possibility); referral to rheumatologist a good idea.

* If he has not done an MRE (magnetic resonance enterography) definitely ask for this to rule out small intestine inflammation- this cannot be ruled out by endoscopy. If they want to do CT, try to get them to do MRE instead. Abdominal CT has high radiation load and you want to minimize them - although they were the standard imaging until the past 2 years or so.

* Ask about growth if you have accurate records of height and weight over past two years and she does not appear to be growing as she should. You may be able to get these records from your pediatrician if she has been seen for well child checkups. The drawback to this is that their height measurements are often inaccurate. If you have marked her height at home every year check that against the numbers from the pediatrician.

* Ask for a copy of all lab results and scope/other reports for your records. Do not take NO for an answer but you may have to formally request them through medical records. Most ped GI docs just have copies made for you right then.

* Ask about 2nd opinion referral to major medical center with Pediatric IBD clinic. If you tell us where you live we can suggest places to go for 2nd opinion.

 

[Sascot]

Welcome to the forum, sorry to hear about your daughter. Not sure what questions you need to ask, just wanted to wish you luck with all the testing and the GI appointment!
I know what it's like to be watching your child suffer with no actual diagnosis and tests coming back negative (as do alot of the parents on here). It took a year and a half to get my son diagnosed and I am still having issues with my daughter which we seem no nearer to getting any answers.
The paediatrician did mention to me once that you can be constipated while still having bm's regularly, not sure why the bowel doesn't empty properly. Hope you get it sorted so she can get some treatment.

 

[boosmom]

Thanks to everyone for the 'answers' and questions...and support!

@Patricia56

1) Growth seems normal, but minimal signs of the onset of puberty. She is way behind all of her peers the same age. I am very tiny, so the growth is a hard one to determine. I'll ask about that on Tuesday. I have also kept regular growth marks at home. Not sure how to track them to see if they are normal. She is growing up, and her body is slimming down. So it's also hard to measure weight loss. A few weeks ago she put on a skirt (with a zipper) she got when she was 5.

2)The only imaging has been the x-rays and scopes. Results on the scopes were 'negative' for Crohns and colitis. But did show enlarged lymphnodes in the colon. LNP said everything can change.

3) No transit study. I'll ask about this, too.

4) Labs just run on Friday.

Doc has not mentioned Lupus. My sister has lupus, however, and my family history is rich with auto-immune diagnoses. Symptoms do not appear to be the same as Lupus.

Ped ran labs for infection, occult stool sample, tested for parasites, etc.

I am in southeast Georgia. The pediatric GI is the only one in the region. Other possible 'close' locations are Charleston SC, Jacksonville, FL or Atlanta, GA.

Again, thank you.

 

[Patricia56]

For growth percentiles, you can use the calculator at this site to see what % she is on the standard growth charts.

http://pediatrics.about.com/cs/growthcharts2/a/percentiles.htm

This site also has a link to the standard growth charts. You can print charts like this out and plot her growth over time. This is a good way to see what her growth curve looks like over time. Even if it would be normal for her to be tiny, her growth should still follow the regular curve, just at the lowest end of the range.

You can figure mid-parental height and put it on the growth chart to see what her expected height would be. If her bio father is also very short then this will be a little taller than it should be. If he is of average or taller than average height then this is not probably going to affect the result.

http://pediatrics.about.com/cs/usefultools/l/bl_height_pred.htm

Be aware that mid-parental height is +/- 2 inches so if her predicted height is 5'4" then the range of expected height would be 5'2" to 5'6".

Many but not all children with CD have growth delay and severe cases growth failure. Growth failure is being in the 5% or less - except for cases where the expected growth would be that small.

There are also growth charts for weight. The same principal applies - her growth should be following the average curve, just lower than the average range. And, generally speaking, even when girls are starting puberty and their shape is changing they don't *lose* weight. It just shifts around.

This growth chart shows both stature (height) and weight curves on it. As you can see, the average curve always has an upwards trajectory until the girl hits 18. Short term weight loss is of course a different issue but if her weight is not gradually going up and is either staying the same or losing over a 1 to 2 year period then that is NOT normal.


http://www.cdc.gov/growthcharts/data/set1clinical/cj41l022.pdf

My non-IBD daughter was a late bloomer - didn't show much sign of puberty until she was 13 1/2. If you DD is fighting an autommune disorder then it's not surprising that she's delayed (although endocrinologists would say she isn't delayed unless she still hasn't gotten there at age 16).

As I said, I would think it unlikely to be Lupus but Lupus is a trickster. It can present in some pretty bizarre and unusual ways and/or take a long time to manifest fully so that it can be accurately diagnosed.

Definitely ask why no MRE. This is now a core standard of care for diagnosing and managing IBD, especially in children.

Biopsies are not perfect. They're are tiny samples taken randomly from the colon. CD produces skip lesions - areas are perfect while others are bad. It's possible that an area of inflammation wasn't sampled. The enlarged lymph nodes are suspicious but not specific to CD.

With a family hx of many auto-immune conditions I say - get her to a rheumatologist. ASAP.

From Georgia the best place I know that is in the larger region is University of North Carolina, Chapel Hill. They have an amazing pediatric and adult IBD program.

Alternatives (not in any particular order) would be

Atlanta - Children's Healthcare
Gainesville, Florida - University of Florida

 

[boosmom]

Thank you, Patricia56!

I am working on being prepared for a long and frustrating journey...but hopeful.

The biggest concern right now are the increasing bouts of rectal bleeding and severity of the 'episodes'.

I'll post again after our 'emergency' appointment on Tuesday.

Again, thank you.

 

[Patricia56]

If the ped GI didn't give you any guidance as to when to call or go to ER, I would contact them first thing tomorrow and ask for that.

IF you didn't see it, I wrote a bunch of stuff about when to go to ER/call the doc in this thread titled Confused. It may be helpful - or not. Always check things out with the docs of course.

http://www.crohnsforum.com/showthread.php?t=39231

Hope you have a much shorter journey than that - for everyone's sake.

 

[Farmwife]

Hi and welcome,
I hope the appointment sets you in the right direction for your child.
Welcome aboard!

Farmwife

 

[723crossroads]

Boosmom,
Has your Dr. checked for hemorroids? Just a simple question, because she is constipated and straining make mine bleed excessively for days when I go. It can be scary and look like alot of blood in the toilet. You can be constipated and have crohn's and have the urge to go alot. I was. But, now the opposite. God bless! Teresa:heart:

 

[Clash]

My son's ped. GI group is from ATL and head the GI dept at CHOA. Really a great group of docs. They are listed by title and specialty on the CHOA website under the GI link. We haven't had to be at CHOA but their office is located right across the street. We are from middle Georgia so few options in area for ped GI. Hope you get some answers soon.

 

[boosmom]

Thanks everyone.

@ 723crossroads No hemorroids. Child has no 'strain' with BM's. They are regular and generally loose. Type 4, but usually 5 -6 on the Bristol chart. Blood is quite significant and increasing in volume as the 'episodes' continue.

On thing I forgot is that the Dr. ordered a Prometheus genetic blood test, but we are to wait for a fever of 101.

@ Patricia56 no, the Doc has not given me instructions as to when to go to the ER, so I will read your thread. Following Thursday night's multiple bleeding episodes, she was chilled to the bone for 2+ days...wearing a hat, coat and wrapped in a fleece blanket in 103 temps. Dr's CNP just said to call if things worsened and they would direct me from there. Fortunately, she's warmed up and no bleeding since.

 

[Patricia56]

One thing about bloody stools. It can look like a lot more blood than it is once it's in the toilet. In my experience the docs discount reports of bloody stools quite a bit unless you have UC where they kind of expect bad bleeding.

One way to get a more accurate idea of how much blood she has lost is to catch the stool in a bedpan-type thing. Labs here give them out when you have to get a stool sample. If you have one then I would use that to catch her stools. If you don't have one you may be able to get one from your peds or the GI. Or you can call the lab and ask them for one. We haven't had any problem getting one when we've asked although once the peds had to write an order for stool sampling so we could get one.

Then I would call them after every darn one.

Also if there is no order for regular labs to be drawn (CBC w/diff, ESR, CrP at the minimum) I would call them and tell them you are really concerned about her weakness and think it would be a good idea to have these labs drawn today so results are available to GI tomorrow.

Hopefully they won't take offense at your being proactive and just order the labs. If there are standing orders for these labs I would just go to the lab and have them done today. Then when you see GI tomorrow you can tell them they were done.

 

[boosmom]

Thanks again to everyone for advice.

Good news is that daughters labs are all perfect.

She currently has mesenteric lymphadenitis and her colon is flaccid and distended and not 'contracting' to push waste through. Suspicion as of today is that as matter makes it's way out of the colon empty it is irritating the enlarged lymphnodes and causing the severe bleeding. Nothing I am finding on the net shows bleeding as a symptom of mesenteric lymphadenitis? Nor can I find how long this condition can last?

Doc says we need to get the colon working and healthy again and to continue with Miralax regime to see if once she has a healthy colon the other symptoms continue.

They are not ruling out Crohn's yet...but so far beyond the physical symptoms, there have been no irregular labs to support a diagnosis. This is good right? Even though mesenteric lymphadenitis can be caused by the disease, we're not there and hopefully won't be.

They are ordering a Merkel scan this week and genetic testing (Prometheus) the next time fever hits 101. Testing thyroid at the same time.

Still a bit frustrated with not knowing why her body is not quite right, but thankful we've not heard 'bad news'. The PedGi office is a sad place

 

[kimmidwife]

Hi Boosmom,
I hope you get some answers soon. I know how frustrating it can be. Patricia and others gave you some really good advice I don't really have much to add I hope she will improve soon.

 

[Catherine]

Hi Boosman

My daughter also had Mesenteric lymphadenitis seven months before dx with crohn's. Sarah also was dx with constipation although having bm everyday.

But even at that stage she had slight signs of something else in blood tests, in her case iron deficiency anaemia which did not iron tablets did not help.

Good luck Mesenteric lumphadenities can be caused by many conditions, crohn just one of them.

It great your doctor is looking further.

 

[boosmom]

Catherine,

Thank you! My daughter's Mesenteric lumphadenities were discovered during her colonoscopy. Did your daughter have rectal bleeding as a result? Did the patterns of bleeding increase or decrease or show any kind of pattern?

I'm sorry your daughter ended up with the Crohns diagnosis. I'm holding out a lot of hope due to the bloodwork.

 

[Tesscorm]

I can't add to all the advice you've been given but just sending wishes that she begins to feel a bit better! :ghug:

 

[Catherine]

boosmom

Sarah's mesenteric lumphadenties was discovery using an ultrasound where they were looking for a ovarian cyst, due severe pain lasting 2-3 day every other month. We were told the ultrasound was clear. This was in August of last year.

Her colonscopy was not done in January of this year, after a change of GP and referral to a GI.

Sarah has never shown bleeding at all. She does not have Diarrhea and never had any to my knowledge. We know Sarah bleeds as her hemoglobin levels dropped steadly over the last 3 years and began to rise after starting pred and the GI saw bleeding when he performed the colonscopy. Her crohn is not in the colon but further up and her gi when up further the normal with colonscopy.

We are luck at this stage Sarah crohn's is classed a mild chronic crohns and treatment worked very quickly for her.

 

[DustyKat]

Hi boosmom and :welcome:

I am so sorry hear to hear about your daughter...:hug:...what a difficult and heartbreaking time for you all.

You have already been given fab advice! So nothing for me to add there.

What I will say from my won experience though is to trust your instinct and run with that. You know your daughter better than anyone and if what is going on with her doesn't sit right then pursue it and don't stop until you are satisfied.

My daughter was undiagnosed for 18 months and returned normal after normal test. It was both frustrating and frightening because I knew there was something wrong but nothing supported it. I have well truly been left once bitten twice shy from that experience and I still refuse to believe any test unless it matches what I am seeing in front me.

My son was a different kettle of fish, totally the opposite actually, as his bloods show every little glitch before he even feels it! Having said that his biopsies do not support a diagnosis of Crohn's due to the absence of granulomas but he surely does have it.

Good luck to you and girl and I hope more than anything you soon have solid answers! PLease let us know how you get on.

Dusty. xxx

 

[Johnnysmom]

My son had mesenteric lymphadenties and fevers one month before his crohns diagnosis. I was giving him loads of Advil (ibuprofen) for pain and fevers. I didn't know how bad this was for him. I hope you find out soon what is going on but until you get a diagnosis I would try not to use any type of NSAID medication. Good luck!!!

 

[boosmom]

Wow,

So much to learn here!

I appreciate everyone's information and candid sharing of your personal experiences. I'm glad to know I'm not 'over-reacting' to all of these troubling symptoms. I did get firm with the docs NP this week and they do seem to be taking all of this very seriously and know for sure I am too! Still waiting to find out when they will do the Merkel scan. Thanks to my photo documentation of the bleeding, they agreed there is a lot of blood and the severity is increasing. Doubled the daily Miralax dose and 'hope' they symptoms will all resolve.

My daughter has had mesenteric lymphadenties for several months now. It seems it should have run it's course by now if it were the result of an infection of some kind.

I guess the hard part is figuring out how to manage it all, as her symptoms seem to come without warning...then BAM...she feels like crap for a few days to a few weeks, bleeds, then back to 'normal'.

For the moment, thankful things are not anywhere near as bad for her as for so many of your kids. Know they are all in my thoughts and prayers.

 

[DustyKat]

It sounds from your original post that you are tracking her symptoms, is that right?

If not or even if you are perhaps you would like to have a look at the suggestions we have in the wiki...

http://www.crohnsforum.com/wiki/Diary-Inclusions

...I personally found having a diary very helpful as living this day in and day out I tended to forget the little things, they started to become normal without me even realising it!

My daughter tended to cycle too, periods of illness followed by periods of wellness. I think you will find it is not too unusual to find that pattern.

Good luck!

Dusty. xxx