Newly “diagnosed” 7-year old - confused mom

[Boymom]

Hi everyone. New here. My “so healthy he never missed a day of school out sick” 7 yr old son is presenting with an atypical CD case and it’s been a scary and confusing time. So I’m wondering if any of you all have dealt with a similar situation. I’m desperate to talk to any other parents who understand IBD. So here it goes … sorry for the long post.

Four months ago my kiddo started complaining of stomach pains, had frequent night sweats, stopped eating much and dropped 10-15% of his body weight. Never (and still hasn’t) had diarrhea or bloody stool. After bloodwork showed inflammatory markers, pediatrician referred us to a pediatric GI at top Children’s Hospital in NYC (where we live). More labs done and Calpro > 3000. GI PCR all negative but doc thinks infection. Two weeks pass and he’s better then horribly worse. Son ends up admitted to the hospital where MRE confirms inflammation in small intestine. Colonoscopy is clear/normal but endoscopy shows some abnormalities that are biopsied. Biopsy comes back as not suggestive of IBD or celiac. Calpro drops to 445. Bloodwork all over the place … some stuff better some worse. He’s anemic. New symptoms arise like daily fevers everyday at 4pm and mouth sores. Albumin very low so infused. After another hospitalization and having rheumatology, immunology, infectious disease, hematology and oncology consulted, GI doctors reluctantly decide to do pill cam as they’re still convinced it’s infection. When doc uses scope to insert the pill they notice the abnormalities they saw 10 days before on original endoscopy look better/healed with no drug intervention, so they biopsy again. Pill cam shows scattered lesions in part of intenstine scope couldn’t reach but biopsy of upper area again not suggestive of CD. Doctors don’t want to label kiddo with chronic disease and start meds if they aren’t 100% sure and for them 100% sure is confirmed biopsy. Son is getting worse, constant pain, not eating … he’s now got an NG tube for night feeds to stop weight loss. I beg and they finally agree to prednisolone to help him feel better. But they encourage us to get more opinions to see if others have seen similar cases recently as healing with no drug intervention, improving Calpro (though never normal), lack of confirmed biopsy and no family history make them skeptical it’s CD. So now I have no idea what to believe. Second opinion I get from another large NYC hospital does think it’s CD (all signs pointing that way) though also not thrilled with the missing biopsy confirmation. Steroids working beautifully … eating like a horse, feels no pain, moon-faced and bloated but so much happier and playing and smiling.

so my question, has anyone else’s kid been diagnosed without a confirmed biopsy? Is that really the gold standard? I’m skeptical with his decline over the months that it is just an infection as this feels worse but doc’s lack of confidence has me puzzled (and I’ll admit hopeful) it’s something acute. We’re working on a 3rd opinion from another major hospital in NYC but would you go to CHOP or BCH for a 4th? Virtual second opinion not covered by insurance so don’t want to spend $$$$ if not really necessary. Doc wants to start gradually reducing steroids next week and either (1) take them down over 6 weeks and wait and see how he feels or (2) start Remicade to get maintenance in place and officially diagnose as CD as he is fearful if we don’t kiddo will end up back in hospital. Would you start the biologics when docs still aren’t totally convinced it’s CD?? I’m torn to be honest. In my gut I feel we should start the biologics but I have this nagging “what if”. How many opinions do I need? I have a very big job as does hubs and we’ve already missed months of work and chasing down these opinions is time consuming and daunting and adding more stress. But he’s my son so of course I’ll do anything.

please help me off this ledge! I’m so lost with what to do.

 

[my little penguin]

So my kiddo was dx at 7
He is now 18
Atypical crohns
For him he had non caseating granulomas found at the terminal illeum on biopsy at dx which is indicative of crohns
But 10 years later we are still being told crohns is the “best fit “ however not a good fit
Only 30% of crohns patients have non caseating granulomas found on biopsy which is the check the crohns box for pathology

have you looked at nih ? They have an undx program across the country for hard cases

chop has an immune dsyregulation team
https://www.chop.edu/centers-programs/immune-dysregulation-program
There are also a ton of auto inflammatory disorders which can mimic crohns and are hard to dx
https://www.nomidalliance.org/learn_intro.php
My kiddo has acute neutrophilic febrile dermatosis (Aka Sweets Syndrome) which causes fevers ,lesions ,flu like symptoms,Gi pain ,ulcers , joint pain etc….
Responds very well to steriods and in his case. Needs ilaris (il-1 biologic )
We blamed most of his symptoms prior to dx on crohns

prednisone fixes a lot of things quickly
Remicade also fixes a lot of things
Wish I had an easy answer
We chose to treat as of it was Crohn’s years ago
Keep looking for other answers just in case we get a better fit

my kiddo takes Stelara and methotrexate for crohns /juvenile arthritis
And ilaris for sweets syndrome

but it took years to figure out what would be best

get another opinion
Chop has an veo ibd clinic which takes kids dx before age 8

They understand the weird kids
Not sure on Boston ‘s programs

pm me if you have more questions on chop

 

[xmdmom]

I’m very sorry that you snd your son have been dealing with this.

You wrote “Biopsy comes back as not suggestive of IBD or celiac” I’m wondering what the intestinal biopsy showed?Can you share the exact words re: the microscopic part? Did they biopsy the ileum?

Also wondering how long your son has been on steroids?

Sending you wishes for clarity.

 

[Boymom]

They didn’t biopsy his ileum. Just saw the lesions on the pill cam. Just biopsied the parts the endoscope could reach (esophagus, duodenum and stomach). They saw lesions with the scope that they biopsied 3x total after 3 scopes and all pathology reports said that gastritis and duodenitis was present but pathology finding “does not suggest an immune mediated condition such as idiopathic IBD or Celiac”.

Regarding steroids, he’s been on them now for 16 days. 40mg (broken up as 20mg given 2x per day) which they plan to keep for another week and half and then gradually start to reduce.

 

[my little penguin]

Did they do a colonoscopy at all ?
What your mentioning is just an upper endoscopy so it doesn’t look at any of the large intestine/small intestine
That would be where they would find crohns
Not an upper endoscopy.
A colonoscopy should include biopsy of the rectum, sigmoid colon , ascending and descending ,transverse colon plus terminal illeum
Was this done at a large university childrens hospital
If not run don’t walk to one
You can not rule crohns in or out without a full colonoscopy .

 

[Maya142]

My daughter has severe inflammatory arthritis and Crohn's. We saw many specialists in NYC - we literally went to every big hospital (for her arthritis). I wish we had gone to CHOP - she would have gotten MUCH better treatment and perhaps her arthritis would not have become so severe. We did end up going to CHOP when she was later diagnosed with Crohn's (at 16). They have an excellent pediatric IBD program - one of the best in the country. They also have a lot more support for kids - special GI psychologists that help kids cope with NG tube feeds (my daughter also needed NG tube feeds and eventually a GJ tube), support groups, Child Life etc. Her Crohn's (which was confirmed by biopsy and she had ulcers in her colon) was treated aggressively with Remicade and it has always been mild-moderate and she's now in remission on Remicade (her arthritis, on the other hand, is a disaster).

Also, CHOP is one of the few hospitals that have a Very Early Onset IBD program (VEO IBD) and since kids who are diagnosed when they're very young often present differently from kids who are diagnosed when they are older or teens, it makes a lot of sense to go there.

I have been on this forum for 9 years and there have been kids on here who have been diagnosed with disease in the small intestine where scopes cannot reach. It's rare but it can happen - they are usually diagnosed by pill cam or MRE. I absolutely think it's worth the trip to CHOP - they have an integrated immunologist in the VEO program, if I'm not mistaken, so you would see an immunologist as well as a GI in one visit.

We did go to Mount Sinai for a second opinion once - there's a Dr. Dubinsky there who treats both kids and adults and she is very well known and supposed to be very good. They have an excellent adult center, but we found that CHOP was much more child friendly.

To me, honestly, with inflammation on an MRE and lesions seen on the pillcam, it does sound like Crohn's or at the very least, something autoimmune or inflammatory. If it were an infection, I would not expect steroids to help.

My daughter has been to Boston Children's a lot for surgeries for her arthritis and it's also a good option, but CHOP is easier to get to from NYC (my daughter went to college in NYC and she did have to travel a lot for appts. but it was worth it she says).

 

[my little penguin]

https://www.chop.edu/centers-programs/very-early-onset-inflammatory-bowel-disease-veo-ibd-program
Chop veo ibd clinic
Has genetics (whole exome sequencing as part of nih grant for free )
Immunology and possible /rheumatologist
Social work
Nutritionist
Plus Gi trained just in crazy veo kiddos (anyone below age 8 at dx)

immune dysregulation team
Has to be referred by another specialist
Has genetics
Immunology
Gi /rheumatologist/allergy etc depending on what they think (top docs in each department)
lots of testing and full review of records

both teams
You have only one visit -one room
Each speciality comes in one at a time and informs the next specialist prior to entering so you don’t have to move or repeat much

highly recommend both

 

[Jbungie]

I'd just like to respectfully add, I don't think lack of family history should have anything to do with the possibility of a diagnosis. Hope you get an answer soon!

Also, if you are at Mt Sinai I would try to get in touch with Dr Dubinsky, and Dr Mike Dolinger.

 

[xmdmom]

I read that “About 12 percent of people with Crohn’s disease and about 9 percent of people with ulcerative colitis have a confirmed family history.” That leaves 88% who do not.

 

[Boymom]

Thanks for the responses everyone. I truly appreciate it. I’ve started the process to get an opinion from CHOP. In the interim anything else I should press my GI team about?

 

[Maya142]

Well, there is Exclusive Enteral Nutrition (EEN) as an option which could take the place of steroids if you want to avoid Remicade but want to avoid him tanking while you wean off Pred and needing to be hospitalized till you see someone at CHOP. But it would cause healing which would then make the diagnosis process even harder. EEN is formula only for 6-8 weeks. It actually heals the intestine better than steroids and most symptoms go away relatively quickly. But of course, it can be very hard on kids since that's a long time to go without food. Usually younger kids do better than teens. Also, some GIs allow 10-20% food and 90-80% formula to make it easier for kids and that usually works as well or almost as well as 100% formula.

I think the big issue in your case is that it would mask the disease, so the doctors you see for your next opinion(s) really may not see much if they scope him again or do another pillcam or MRE. But then again, he is already on steroids which also reduce inflammation and do heal the gut (but less well than EEN) and you do have plenty of studies they could already review - the pillcam, the MRE report and actual images (you can get a CD of them) and you can even have another pathologist read his biopsies again. So if the doc wants you to taper steroids before he can been seen at another hospital, it could be a non-drug option that will keep him feeling well while you figure out next steps.

With EEN, you could do a mix of drinking formula and using the NG tube at night or do all of it through the NG tube. Some kids prefer to drink and others much prefer the tube. My daughter actually inserted her own tube every night and took it out in the morning, so no one at school had to know. It sounds worse than it is - they teach kids as young as 6 or 7 to do it at CHOP.

Another question to ask (if they are set on biopsies) is why they did not biopsy the terminal ileum, considering Crohn's is most often found there? Did they take ANY biopsies in his colon? They should have, even if it looked clean.

Also, there are scopes that can reach the entire small intestine - the procedure is called a double balloon enteroscopy or an enteroscopy. However, I don't know if they do them on very young kids - my daughter had an enteroscopy when she was a teenager.

Hang in there - things will get better once he has a diagnosis. If he is diagnosed with Crohn's, biologics like Remicade and Humira can work wonders.

 

[crohnsinct]

I haven’t read through this entire thread but wanted to hop on here to say quickly tgat I just saw a case presentation of a young boy that was eerily similar to your son’s case and while they don’t have a confirmed dx yet they are close. There were many differential diagnosis discussed. I am trying to remember who was in the room. Yale, Pittsburgh, Mayo, childrens atlanta, Cleveland. I actually believe it was CHOA who presented the case, so maybe that is a good place to try for another opinion. Otherwise, BCH or CHOP are equally good.
Sorry I am so scattered, a lot going on here. I will try to catch up on the thread and write more tomorrow.

 

[crohnsinct]

Oh yeah…the working dx is not IBD. I forget what it is but they found it through extensive genetic testing.

 

[crohnsinct]

…and even though he isn’t diagnosed as of yet they are trying the drugs for the condition and if they work will assume they are right. So yes, sometimes even without a solid dx drugs are tried to see if they help.

 

[asadmom]

I'd just like to respectfully add, I don't think lack of family history should have anything to do with the possibility of a diagnosis. Hope you get an answer soon!

Also, if you are at Mt Sinai I would try to get in touch with Dr Dubinsky, and Dr Mike Dolinger.

Do you have any experience with Dr. Dolinger? How about Dr. E. Spencer? One clerk recommended Dr. Spencer over Dubinsky for peds.

 

[crohnsinct]

Dr. Dolinger is the guru who pioneered intestinal ultrasound and is teaching centers all over the country how to do it. So if you could get in with him you might get to do some ultrasound monitoring. Last I heard he was a fellow and may have left by now.

Marla Dubinsky is great. She is a guru in both pediatric and adult IBD. She is the director or co director of both the adult and pediatric IBD centers at Mount Sinai so if you could get in with her, she is also another great choice. The clerk might have steered you away because she doesn't see just anyone who comes in these days. You have to send your entire medical record to her, she reviews it and then decides if it is a patient she wants to take on, a patient she wants to just give an opinion for or one that another GI in the center should see. They actually have a lot of great GI's at that center so you can't go wrong.

 

[asadmom]

Dr. Dolinger is the guru who pioneered intestinal ultrasound and is teaching centers all over the country how to do it. So if you could get in with him you might get to do some ultrasound monitoring. Last I heard he was a fellow and may have left by now.

Marla Dubinsky is great. She is a guru in both pediatric and adult IBD. She is the director or co director of both the adult and pediatric IBD centers at Mount Sinai so if you could get in with her, she is also another great choice. The clerk might have steered you away because she doesn't see just anyone who comes in these days. You have to send your entire medical record to her, she reviews it and then decides if it is a patient she wants to take on, a patient she wants to just give an opinion for or one that another GI in the center should see. They actually have a lot of great GI's at that center so you can't go wrong.

Actually Dr. Dubinsky still accepts new patients. Getting on her calendar is quite straightforward. The clerk recommended Dr. Spencer for several reasons: 1) more personable experience (esp. for peds), 2) Spencer has Crohn's herself, 3) Dubinsky only sees patients one day a week, all in-person whereas Spencer is available 2 days of the week and after the intial in-person visit, she can see you remotely and this is great for many who don't live in the area. Dubinsky is Spencer's mentor anyway so they work closely together. All of them use IUS during the office visit which is fantastic.

 

[Crohns dad]

Our son was diagnosed at 7. He had a bad URI that led to night sweats, night fevers, weight loss, anemia, loss of appetite, etc. He never had diarrhea or any other typical CD symptoms. We saw several doctors and finally ended up at UNC childrens. They saw inflammation in his bowels while doing an ultrasound of his liver. A colonoscopy, endoscopy, and cat scan quickly followed. He started on Avsola 5 days later, still in the hospital.

It’s been a year since he first got sick and 9 months since he went to UNC.

His blood work began improving immediately after his first infusion. His inflammation markers have been normal for months but his iron remains slightly low.

It’s so scary when our kids are sick

 

[Stressedmom]

I am going to message you. Our son has a much different presentation, but we still have not ruled out early Crohns/pre Crohns. We did do the virtual second opinion program with one of the top pediatric GI Drs in the country at BCH and it was enormously helpful in guiding us, since we had 2 GI doctors disagreeing with course of action. However, it took much longer than advertised in part because of the companies involved adding more redtape and in part because we knew the doctor we wanted and he's very busy. I believe his practice is closed to new patients and used to have a year long waitlist so this was the only way to get his input. Our son has multiple GI issues so we needed someone with the expertise and background to look at all those things, see if he agreed with the diagnoses we already had and see if we still need to explore Crohn's, which we do. In your case though I would go to the best place for Crohn's which I believe is CHOP or at least it's one of the best places. We may go there as well at some point. I will go into more detail when I message you.

One more thing, you can have Crohn's at parts of the small intestine they can't biopsy with the typical scopes, like the jejunum. That may end up being our issue since that is where I think some inflammation/wall thickening was detected on MRE. However, the fact calprotectin is so high makes me think Crohn's would have been found elsewhere with the biopsy. If it's just in the small intestine, calprotectin is sometimes less likely to show the inflammation. I am surprised none of the biopsies indicated Crohn's with that high a calprotectin. There are certainly others things that raise Calprotectin besides Crohn's. It's tough when it's a medical mystery. I hope you get answers.