We have a diagnosis! (And I'm not crazy!)

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DanceMom

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Doctors have a way of making you feel crazy when you take your child in repeatedly, stating how sick she is, but they can't figure out what's wrong. Well today we got a "real diagnosis" and validation that I'm not crazy.

A has been diagnosed with Intestinal Lymphangiectasia. This is the cause of her Hypogammaglobulinemia. Her biopsy from January discovered this but her GI didn't seem to agree. We met with the Immunologist today and she stated that she always thought A had IL but couldn't prove it until now. Primary IL is extremely rare and the Immunologist is currently looking for a doctor that can treat her. Our GI does not have experience with this condition, so as much as we love him we may have to move on.

Treatment could include diet changes, bowel resection, medication, or a combo of those things. I'm anxious to get her on the right track! I've been on the verge of an anxiety attack all day.
 
I've never heard of this. I'm glad she (and you) finally have an answer. I'll pray you find just the right doctor to treat her.
 
We knew you weren't crazy.:ghug:
Because if you were crazy
that meant we were crazy
and we couldn't have that.:eek:

I'm glad for answers for her and peace of mind for you.
 
We're still waiting to hear back from the Immunologist about a treatment plan. When I called to check in last week the nurse stated that the doctor was waiting to hear back from a physician she contacted (one I was not familiar with). I'm just ready to get things going.

A's IgE lab came back elevated at 156 (norm is <114). Anyone else have an elevated IgE? I know it can be indicative of several things and from what I've read it is common with PIL.
 
Elevated IgE is extremely common in allergic kids
Particularly environmental allergies
Ds has had high IgE levels every time they tested
Let me look for the values
I remeber them being really high
But not hyper IgE syndrome high
Never a concern
Just part of allergies
 
Last IgE was 417

Normal <88 for his age and the lab

At age 3 number was 305
Normal was < 60 for his age at the time
 
Hooray for answers! Sorry I didn't see this sooner! Will be waiting to hear more as you hear more. Two questions, is she still diagnosed as having an immune disorder or does this take the place of that diagnosis?
Does she have extremity swelling as that seems to be a big symptom of this diagnosis?
 
Her immune deficiency is considered secondary to the PIL. Her face swells, not her extremities. In talking with others that have PIL it seems that facial swelling is more typical in children and swelling of the extremities more typical in adulthood.

We're away at her National competition now (she's dancing really well!) and dealing with GI issues, asthma flare, and now a very infected lymph node. Calling the Immunologist this morning to see what can be done.
 
Ended up at the ER. They decided it was an abscess with cellulitis. 10 days of antibiotics and watching it closely. Poor kid can't catch a break.
 
Pulmonology nurse just called with allergy results - Class 2 for dust mites and Class 3 for mold. Said she'd call later with the doctor's recommendations. I'm assuming this is the cause of her nagging sore throat.

On a positive note all her dances placed 2nd or 3rd at her first National competition including her solo! How she dances so beautifully when not well is baffling. We just arrived at her second National competition and we're relaxing before the whirlwind starts tomorrow. There's 58 in her solo age division, so fingers crossed!
 
Dust mites keep the house free of carpeting /curtains as much as possible
Keep temperature below 72 deg
Freeze or run through the dryer all stuffed animals

Good luck
 
I am allergic to dust mites, mold, grass, and a lot of other things. We have no carpet I g in the house which makes a huge difference. We also got those mattress covers that you zip around the entire mattress. It has really helped me. We also change the AC filter every two months. My husband says buy the cheap fitters and change them more frequently. It does exactly the same thing.
 
We only have carpet in the bedrooms, curtains only in the living room. All beds have nice mattress covers. I do need to dry her stuffed animals because she has tons of them. We keep our house between 73-75, which in FL can be difficult and expensive.

Doctor wants to try Zyrtec and gave her Prednisone for her cough. Ready to get her feeling better!
 
Ds has been on Zyrtec daily since he was 18 months old
It does work well
There are also allergy shots which can improve things if you max out on meds
Ds did that at age 3
 
Just wanted to update! Several doses of her antibiotic and 2 doses of Prednisone and A feels great. I wish it was safe to take Prednisone long term because she thrives on it. Her infection looks so much better. And more great news....her solo placed 2nd out of 58 kids from several countries! So happy for her! She gets to perform again in the Showdown tomorrow night. Yay for a good day!
 
It has been a crazy few weeks of ups and downs. A has felt pretty poorly all month so the Immunologist ordered a few tests. Turns out she has enterovirus which caused an asthma flare and GI symptoms. Nothing much can be done but it seems to be resolving slowly. Now she has what appears to be 2 infected bug bites on her leg. The doctor wants to avoid antibiotics if possible for fear it'll worsen the diarrhea that seems to be improving.

Her Immunologists (we seemed to have picked up another who is more available and very interested in A's case) have done lots of research and are considering long term steroids. We know there are risks, but they improve her quality of life so much. They want her to get over this virus/infections before starting though. Just seems to be one thing after another this summer!
 
DanceMom said:
It has been a crazy few weeks of ups and downs. A has felt pretty poorly all month so the Immunologist ordered a few tests. Turns out she has enterovirus which caused an asthma flare and GI symptoms. Nothing much can be done but it seems to be resolving slowly. Now she has what appears to be 2 infected bug bites on her leg. The doctor wants to avoid antibiotics if possible for fear it'll worsen the diarrhea that seems to be improving.

Her Immunologists (we seemed to have picked up another who is more available and very interested in A's case) have done lots of research and are considering long term steroids. We know there are risks, but they improve her quality of life so much. They want her to get over this virus/infections before starting though. Just seems to be one thing after another this summer!
Click to expand...
So sorry
 
Hope the virus and bug bites clear up soon. Glad you have a doc that is interested in researching and trying to help!
 
It helps to have docs interested in helping. I'm sorry it has to be long term steroids that be the thing that helps, but I'm glad something helps.
 
Big hugs long term steriods is not fun
Ds was suppose to do that for his sweets syndrome but even at 5 mg a day
Way too many side effects
Trying different meds now
But may have to go back to them

Good luck
 
Yikes! I hope they work well for her. I know they used to use long-term steroids a lot for JRA and RA before there were biologics. What dose is she going to be on?

Fingers crossed for no side effects!
 
Maya142 said:
Yikes! I hope they work well for her. I know they used to use long-term steroids a lot for JRA and RA before there were biologics. What dose is she going to be on?

Fingers crossed for no side effects!
Click to expand...

The doctors haven't agreed on a medication or dosage yet. There just aren't a lot of trials done or case studies on what works. And each kid is so different. We may go with Prednisone or a steroid that targets the gut. We may do daily or several short bursts per month. Probably a trial and error kinda thing.
 
I'm a little late, but I'm so glad you have a diagnosis! Will you still see Dr. F for other reasons at all? Regardless, I hope you love the next person just as much. I know how much that makes a difference. ((Hugs))
 
We have an appointment with the Immunologist next week so hopefully we'll have a treatment plan after that. We see Dr. F next month but I'm not sure if he'll agree with the diagnosis or not. So many things still up in the air.

Meanwhile A seems to be getting worse. She wakes up every morning with facial edema. Could be a sinus thing (she has had bloody nasal discharge for a few weeks) or could be a sign of disease progression. She is definitely more fatigued and I worry she'll be miserable when school starts next week.
 
No steroid. She's at her best when on steroids. She's currently on Flovent, Zyrtec, IVIG, and nasal rinses. We stopped the Flonase in case it was contributing to the bloody noses.
 
For Ds we were told to use the Flonase /nasonex etc then use saline nasal gel which keeps things moist
For Ds at least using the Flonase nasonex etc caused nose bleeds but not using them increased nose bleeds as well
So doctor had us add the saline gel

Did you let the immunologist know about the facial edema ???
 
my little penguin said:
For Ds we were told to use the Flonase /nasonex etc then use saline nasal gel which keeps things moist
For Ds at least using the Flonase nasonex etc caused nose bleeds but not using them increased nose bleeds as well
So doctor had us add the saline gel

Did you let the immunologist know about the facial edema ???
Click to expand...

We were planning on d/c the Flonase once she'd been on the Zyrtec awhile anyway. It didn't seem to be working for her. The sinus rinses seem to be clearing her out pretty well. Lots of blood. Yuck.

The Immunologist doesn't know about the facial edema yet. I've taken pictures and will show her at the appointment. She's only in clinic Tuesday and Wednesday so we may as well just wait. It's very common in PIL unfortunately.
 
A is going to start Octreotide. Not sure if Immunologist or GI will be prescribing. Don't know any details really and have to wait on insurance approval. We will be testing vitamin levels next week and supplementing if necessary. Also going to look into a therapist for her. I already know these injections may not go well (she's anxious already). Very hopeful now that we have a plan though!
 
DanceMom said:
A is going to start Octreotide. Not sure if Immunologist or GI will be prescribing. Don't know any details really and have to wait on insurance approval. We will be testing vitamin levels next week and supplementing if necessary. Also going to look into a therapist for her. I already know these injections may not go well (she's anxious already). Very hopeful now that we have a plan though!
Click to expand...
Congratulations
 
What is the Octreotide for?

I hope the injections go well. Has she tried Buzzy? That might help a little.
 
Maya142 said:
What is the Octreotide for?

I hope the injections go well. Has she tried Buzzy? That might help a little.
Click to expand...

I'm not 100% sure how the medication works, but it is supposed to reduce the amount of lymph produced/leaked and hopefully resolve the diarrhea.
 
Oh I see, that makes sense. Just had never heard of it and I was curious. I hope it works well for A! She deserves a very long break from all of this!

We have had great success with seeing a psychologist. For us, finding one that worked with kids with chronic illnesses is what really made the difference.
 
Fingers triple cross that this med helps her! she really deserves a break!!! Will be waiting to hear some updates on how she is doing.
 
So much catching up to do on my part, DanceMom! I am so happy to hear that a diagnosis has finally been found and am hoping with all my heart that this med provides lasting relief for your lass, bless her. :heart:

Good luck!!! :goodluck:
 
Anyone use the Boston Children's online second opinion program? I'm exploring all of our options because I'm sick of standing by while my girl declines and doctors argue about what to do.
 
We have been to BCH but haven't used the online program. We've only been to rheumatology there, not GI. It was great!
 
FranG is a new mom with an update. That's where her son goes.
Hopefully this will tag her.

Hugs to you both
 
We've decided to see a GI in Atlanta that treats other children with IL. We just weren't comfortable starting daily painful shots without his recommendation. So we head up next month and hopefully we'll develop a plan.

A is doing okay. She continues to have diarrhea and fatigue, but that's become her new normal and she handles it well. She's training for a 5k she wants to run in a few weeks. The sicker she becomes the harder she fights. Her WBC are down to 3.3 (4.5-13.5) ....and that was a week post infusion when they should be at their highest. Her disease is progressing.
 
Just an FYI running -(training ) will increase diarrhea in most
Since runners trots is common in non Ibd folks
Are the docs ok with her WBC count being that low and waiting a month for a consult and basically longer without meds
 
my little penguin said:
Just an FYI running -(training ) will increase diarrhea in most
Since runners trots is common in non Ibd folks
Are the docs ok with her WBC count being that low and waiting a month for a consult and basically longer without meds
Click to expand...

Somehow she pushes through physical activity (dance, running, PE) but does tend to have accidents. That's not new for her. She's happier when she's active so her doctors don't discourage it.

Our GI here ordered the labs but didn't seem bothered by the results as he wrote me a message and encouraged me to cancel our appointment scheduled for next week. He wanted us to see another GI in the practice but couldn't get us in until the end of October. We decided Atlanta was a better option. I spoke to the Immunology nurse about the low WBC and she said it isn't considered critical for her diagnoses. Hopefully they'll retest at her infusion (a little over a week away).
 
Hope you get a good treatment plan from the appt. Fingers crossed.

Way to go A! She is one tough kid. I hope they can get her feeling better SOON.
 
Lab results are slowly filtering in....

TTG IgA is 4 (weak positive, normal is less than 4). Her biopsies have always been negative for Celiac. Think this means anything? As far as I know this is the first she's had this lab so nothing to compare it to.
 
Biopsies are the gold standard
When was her last upper scope done
And was she eating large amounts gluten at the time
My DH has one blood test positive ( not that test though ) but is not celiac
Or gluten intolerant
Ds is gluten intolerant but has negative tests and biopsies
 
What about other intolerances? Fructose, or some other less common one? Have you done a food diary in awhile?
 
No other intolerances. We do have her on a low fat diet for the last few weeks (recommended for patients with IL).

Her IgA has always been normal. I believe her medication contains small amounts of IgA, so maybe this is a false positive because she actually carries other people's antibodies.

She's been complaining of a stomach ache and left sided rib pain since yesterday's run. I initially thought a side stitch but it hasn't gone away. Spleen maybe? Hers was enlarged before but discovered incidentally and didn't cause any symptoms. Now she has me worried.
 
After getting home this evening I looked at her stomach and there's a large (relative to her tiny frame) lump right below her left rib. She's in quite a bit of pain but no fever. On call Immunologist said to have her seen first thing in the morning, sooner if she develops a fever or can't sleep due to pain. Assuming it's her spleen...
 
Took her to the ER this morning. They did an ultrasound and xray and couldn't find a reason for the swelling. They diagnosed it as a superficial skin lesion, insisting she'd been scratched by a cat. We don't even have a cat. Her pain was a 6 yesterday, a 9 now. I'm super frustrated. I don't understand why she'd have this large swollen and painful lump because it certainly wasn't from a cat!
 
If she is worse I would call the immunologist - the er is just to get stable and with complicated medical kids most of the time doesn't see the whole picture
Is her immunologist on staff at the hospital you went to ?
 
my little penguin said:
If she is worse I would call the immunologist - the er is just to get stable and with complicated medical kids most of the time doesn't see the whole picture
Is her immunologist on staff at the hospital you went to ?
Click to expand...

Her clinic is located in the hospital but is not part of the hospital. I asked them to call and consult with her (Nemours always did) but they kept saying it was a skin issue and wasn't necessary. We've had substandard care before, but this topped it all.
 
If they didn't respect your wishes definitely call the immunologist
They need to know what it looks like now
And what the ER did
 
I'm just wondering why they did a chest x-ray and an ultrasound of rib area then....

If she had a small bowel obstruction would that cause swelling in multiple areas of her stomach? Everything I Google sounds like a possible diagnosis, but her BM today was pure liquid and she screamed and felt like she was dying during it. Pain returned to a 6 after BM. Waiting to hear back from Immunologist who was also not impressed with ER care.
 
kimmidwife said:
Thinking of you guys. How is your daughter doing?
What did the immunologist say?
Click to expand...

We have an appointment this morning. It looks like the swelling has gone down some. She says pain level is the same. This will probably be another of those "I have no idea what's wrong with her" things.
 
Immunologist said it's erythema nodosum on her ribs....very rare to have it there and extremely painful. Hers are not red, but the doctor said they sometimes aren't when they're on the ribs or spine. She has one just under her right rib and clusters on her left. She was surprised A was calm because she said each breath had to be excruciating. My poor girl. She prescribed Prednisone.

Apparently the Nemours team (GIs and Vascular Surgeons) recommended surgery to remove the portion of her bowel affected by the IL. We're still going to Atlanta for a second opinion. Is this called a resection or something else? I never imagined surgery in her future so I've never researched this until now.
 
Depending on how much they take out
Small amount resection as long as they plan to reconnect the two parts but won't it reoccur
?
 
It could definitely reoccur. It could also be other places in her bowel that haven't been identified yet. But apparently surgery is often used when the disease is limited to one or two locations.
 
Poor A!! That sounds awful! I hope she feels better with the steroids quickly.

A second opinion makes a lot of sense before surgery.
 
I am surprised they are think g surgery so quickly. Glad you are going for another opinion. That is crazy that it is erythema nodosum. I never knew it could occur other places besides the arms and legs. I hope the steroids clear it right up. Glad you got an answer.
Keep us posted on the second opinion.
 
Sorry to hear things have been so bad. Really hope the pred helps reduce the pain. What a lot to go through
 
kimmidwife said:
I am surprised they are think g surgery so quickly. Glad you are going for another opinion. That is crazy that it is erythema nodosum. I never knew it could occur other places besides the arms and legs. I hope the steroids clear it right up. Glad you got an answer.
Keep us posted on the second opinion.
Click to expand...

She's had EN on her spine before but they were smaller and not nearly as painful. The EN has now spread to her legs. Her chest x-ray was not exactly "normal" as I was told. It indicates thickening of the paraspinal stripe of the upper abdomen bilaterally and suggests doing an abdominal ultrasound (they only did an ultrasound of her rib). I'm not really sure what that means, but she's had a lot of chest x-rays and that finding is new.

I think the point of surgery would be a quick fix (as opposed to medication that doesn't work for a lot of patients). If the diseased bowel were removed she would be in remission and shouldn't need IVIG anymore. It's a tough decision to make!
 
Hugs to you and A.
Grace had EN on her spine and arms before but mainly hits her shins and ankles.
The ones on her ankles hurt the worst. I can't imagine the ribs.
 
Dancemom,
I thought the IVIG was to boost her immune system? So how would surgical removal of the diseased bowel allow her to not need IVIG anymore?
I understand of course that surgery is sometimes needed of course but have they tried other treatments for the bowel besides IVIG?
Can she even safely take something like remicade with her immune system issues?
 
The Intestinal Lymphangiectasia in her duodenum causes dilated lymph vessels. Immune proteins like WBC and IgG are then lost through the bowel. To put it simply she poops out her immune system. Octreotide is a medication that could potentially shrink the lymph vessels and reduce lymph production but that would require daily painful shots (think Humira) forever. And Octreotide doesn't work for a lot of patients. The IVIG she gets monthly replaces her IgG and gives her immune system a little boost, but as her disease is progressing it just isn't enough. Remicade probably isn't effective in IL because IL doesn't necessarily mean inflammation. It's complicated...it is a lymph disorder of the GI system. The surgery recommendation came from a board of vascular surgeons and GIs. Her current symptoms are diarrhea, severe erythema nodosum, protein losing enteropathy, muscle atrophy, fatigue, vitamin deficiencies, and weight loss. We have to do something, I just don't know what yet. The prednisone is helping some, but it's a fairly low dose and short course (and not a very good long term solution).
 
A woke up with about 10 EN on her legs. The ones on her knees really hurt. Rib lumps still there as well. I'll have to call and ask for more prednisone. She still plans on going to gym tonight and running the 5k on Friday.....
 
We use compression stocking on Grace's when she had more than 5 EN on her legs and knees.
Has A tried that?
 
Farmwife said:
We use compression stocking on Grace's when she had more than 5 EN on her legs and knees.
Has A tried that?
Click to expand...

Did that help? They're very sensitive to touch so it seems like that'd be excruciating. The doctor prescribed another prednisone pack.
 
She has over 20 EN now...it's crazy. She even has them on her upper arms (usually only gets them on lower arms). Her rib area is more swollen and her eyes are almost swollen shut. Our trip to Emory won't come soon enough!
 
DanceMom said:
Did that help? They're very sensitive to touch so it seems like that'd be excruciating. The doctor prescribed another prednisone pack.
Click to expand...

I agree, you'd think it would hurt but she says it helps.
Does she have some tight tights? Maybe a size to small?
I did this for grace and just cut the feet out.
Ace bandages were to uncomfortable for her but a composition garments seem to be fine.
 
Farmwife said:
Had the EN been biopsy?
Click to expand...

This flare has not been biopsied, but we've had 3 biopsies in the past. Were Grace's biopsied? I mentioned wearing tights and her expression let me know she wasn't having that.

A ran her 5k and did well, but she's paying for it now. Around 30 EN now, and her rib pain is much worse (like it was in the beginning). I hate to see her like this.
 
Honestly if it's like ds sweets syndrome(SS)
Until you get the trigger under control
It's so hard on them
Ds was miserable with sore lesions/flu like symptoms for close to a year
Finally after increasing mtx and humira things seem to be calming down
I really hope they can come up with a med fix for her quickly

Also understand not wanting to biopsy again
Between scars and trauma
Did the other biopsies confirm EN ?

Never easy when meds are limited btdt with SS
 

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