Hello and questoin from a newbie

[Guest guest]

Oh, my, so many of the messages on this site sound like what my 18-

year-old son has been living through for the last few years! My son

hasn't been diagnosed with neurosarcoidosis, but I'm starting to

think that may be his condition. I would love any advice on

following up on this and pinning down a diagnosis.

Here's my son's story, in brief: Four years ago, he was diagnosed

with Crohn's Disease (inflammation of the intestines). He was

treated for that, but then developed central diabetes insipidus (the

disorder in which the pituitary stops making the hormone needed to

conserve water). He also suffered severe night sweats, fatigue, and

insomnia. After that came several bowel obstructions, resolved

finally by removing part of his intestine. He was recovering well

from the surgery, then suddenly developed severe pain just above the

belly button (near the surgery site). That pain is crippling and

remains until this day, along with persistent nausea, reflux, and

occasional vomiting. Meanwhile, his other pituitary hormones began

to disappear (both cortisol and testosterone currently are being

replaced) and neuropathic pain started appearing in other parts of

his body--usually where he had previously suffered an injury of some

sort. Those pains tend to emerge for a few days and then (luckily)

disappear again. The abdominal pain also changes in intensity and

quality, but some pain is always there. Then came severe urinary

retention, extreme sensitivity to light, and (most peculiar in some

ways) a complete absence of sweating--which makes it difficult to

regulate body temperature. Also severe nasal congestion (actually,

that dates back to the very beginning, but has been less obnoxious

than the other symptoms). There probably are some other symptoms

I'm forgetting at this point! Medications have had limited effect.

The one med that seems to make a difference, we've noticed, is

prednisone. He takes a low dose to replace his cortisol but if we

raise the dose to respond to a physical stress it seems to help

dramatically with his nasal stuffiness and urinary retention.

At first we had a difficult time getting the doctors to take many of

these symptoms seriously. Now they acknowledge the symptoms but

seem either mystified or send us to other specialists. Throughout,

my husband and I have insisted that there had to be some unifying

thread--that our son's immune system seemed simply to be running

amok. How else would one explain a teenager with so many odd

conditions?

Today, a lot of pieces suddenly came together for me: I went back

to the original pathology report on the Crohn's disease and noticed

that they identified an " epithelioid granuloma " as well as another

area of " granulomatous inflammation " in the colon. I remember the GI

was very excited at the time because he said that it's unusual to

find clear evidence of granulomas and they conclusively establish

Crohn's disease. But I rechecked some medical literature today and

discovered that epithelioid granulomas are characteristic of two

diseases: sarcoidosis and Crohn's. And, in fact, they are more

commonly found with sarcoidosis than Crohn's. Also, I can find no

published cases of Crohn's combined with diabetes insipidus--but DI

does occur with neurosarcoidosis. Neurosarc also seems to have the

effects on other pituitary hormones and hypothalamic function (all

of the weird autonomic stuff like the loss of sweating)--none of

which is common in Crohn's disease. And neurosarcoidosis seems to

be one of the few inflammatory diseases that causes such severe

neuropathic pain.

Then I came to this forum and found quite a number of messages

talking about symptoms that sound so much like my son's! What do

you think? Does neurosarcoidosis sound like a promising avenue for

us to pursue? What would be the best tests for diagnosis?

On diagnosis: (1) My son was tested once for serum ACE levels,

which were normal then. But I realized that he had been taking

heavy doses of prednisone for two months when that test was done,

and was also taking methotrexate. He was on both of those for

his " Crohn's " disease. One irony, I think, is that he has been on

doses of immunosuppressants off and on for years, but never at doses

high enough to stop the sarcoidosis. But maybe just high enough to

push the ACE levels into normal. (2) He has had peculiar looking

MRIs of the pituitary/hypothalamus for several years, and the latest

one reports a " probable microadenoma. " A neurosurgeon is going to

look at the MRIs next week, to give an opinion on what the images

might mean. These reports keep coming back with findings

like, " there is something unusual here, but it's not a classic tumor

or other pattern. It might be normal, but then again maybe not.

Check again in 6 months. " Have any of you also had " peculiar, it's

not a classic pattern " MRIs? (3) I'm reluctant to have any kind of

biopsy done, because of the neuropathic pain--a biopsy almost

certainly would generate intense pain in whatever area was

biopsied. Bad enough to be living with the ongoing after effects of

the abdominal surgery! But maybe that's necessary for a diagnosis?

So, given those caveats, any suggestions on diagnosis or things to

ask doctors? I'm hoping maybe the neurosurgeon will have experience

with sarcoidosis (maybe from doing biopsies?) and will recognize the

pattern. Or maybe we could retest for ACE now; my son has been on

fewer immunosuppressants during the last two months.

Sorry to blather on! I'm just curious if any of you have advice for

us. And I do look forward to getting to know other members of the

group. If my son does have neurosarcoidosis, it sounds like he has

a lot in common with some other group members. I look forward to

sharing info on treatments, coping tips, etc. Debby (Columbus,

Ohio, USA)

[Guest guest]

I came to this forum and found quite a number of messages

talking about symptoms that sound so much like my son's! What do

you think? Does neurosarcoidosis sound like a promising avenue for

us to pursue? What would be the best tests for diagnosis?

Wow-- it is very possible that he has NS. Does he have any abnormalities on chest xrays? More than 80% of everyone who gets sarcoidosis ends up with lung (pulmonary) involvement. If he has any evidence of lymph or lung involvement,- those are easy places to biopsy.

Personally, I hate the idea of biopsies of the brain. Hitting the right spot without doing a number on other areas that the brain involves is just to risky. also, the pathologist would still have the granuloma sample from his colon stuff- so they could re-exam it to see if it fits the sarcoidosis picture.

Wegeners granulomatas is another avenue to look at.

the treatment for these conditions is very similar. However, it does sound like your son may be a good candidate for Remicade. The good news is that Remicade is FDA approved for Crohn's. It would help tremendously with boht the Crohn's and the body pains.

As for the tests-- in our ARCHIVES and LINKS we have multiple articles that will give you the tests necessary for a diagnosis. NS is a diagnosis of exclusion-- when everything else is ruled out-- this is what we have. (A positive biopsy in another part of the body is helpful.)

He should have TNF-a and TNF-b studies done-- this is Tumor Necrosing Factor a & b, a specific protein found in the blood. It is supposed to clear out the white cells after they've done their thing-- but with us, it doesn't work out that way.

It is possible that since he's been on prednisone, that the tests for inflammation will be low-- even with very acute systemic inflammation.

The website: SARCOIDOSISSHARMA is excellant and does give you a good insight into the tests necessary for diagnosis. So far, we have no specific tests for NS. Neuropsych testing can show if parts of the brain aren't getting signals they way they should, EEGs, EMG's, CT's, MRI's with and wo contrast are important-- although they may show abnormalities, but not necessarily that is it NS. They just haven't done enough in the way of studies to know exactly what to look for. We all present in such different ways.

I have pulmonary, neuro, systemic and cardiac sarcoidosis. Yet my brain CT's and MRI's are clear. This is because for me, it presents as "vasculitis" inflammation of the blood vessels, and whereever those vessels swell in my brain- is where I am deficient in being able to do the related tasks. (This is where neuropsych testing comes in).

also, get your son off all dairy products- if he's not already. Go organic, fresh fruits and veges, and stay away from processed foods. Processed foods are so high in sodium and preservatives, and reak havoc on people with crohns. I imagine he has a bugger of a time keeping his electrolyte levels in balance with all that's going on-- and I'm sure that plays into his pain also. If potassium and calcium is low-- then body pains and such as the intestinal spasms and cramps- would be horrible. also with the Diabetes Insipidous - his sodium levels are probably compromised also. Naturally, your muscles and ligaments would be in such spasm-- my heart goes out to him.

I am not a doctor-- so this is just from my personal experience and living with chronic illness for the last 27 yrs, 17 of those years with sarcoidosis. So, I'm sending out ideas that come to my mind-- from what I've had to put together for my own illness.

It is in our LINKS and ARCHIVES that you'll find so much more info-- and please- print out what you need, take it to the MD's and ask questions. You will be teaching them-- and prayfully they'll be willing to learn.

You and your son are very welcome to come into the site and ask whatever questions-- we're here to help each other thru a tough path-- but it can be handled.

Would you let us know where you're located, so that we can stear you towards an MD that can help.

Sincerely,

Tracie

NS Co-owner/moderator

[Guest guest]

and Tracie,

Thanks very much for your replies! I will be reading through the

archives and links, soaking up more knowledge. We live in Columbus,

Ohio, USA, and I would love to have recommendations on good doctors.

We are willing to travel a far distance for good help. In fact, we've

already been to the Cleveland Clinic and Mayo Clinic-Rochester at

earlier stages of this saga. So my son already has records at both of

those clinics and we could return if someone knows of a good doctor at

one of those places. Thanks again for all of your help, Debby

[Guest guest]

Sorry to hear your son has susffered so much. I spoke to my internist today and

asked

whether prednisone would affect ACE levels. She said yes it would. I also have

abnormal

MRIs. They show hot spots which indicate inflammation, although nothing

specific. I have

not shown any problem with my lungs. So far my neurosarcoidosis is just that,

specifically

neuro in nature. Only my cranial nerves have been affected as far as we know.

Tomorrow I

go for a gallium scan which should show if inflammation is happening in other

parts of the

body. I am on high doses of prednisone which will probably mask the disease for

this test

as well but they say it must be done before they can put me on Remicade.

-

>

> and Tracie,

>

> Thanks very much for your replies! I will be reading through the

> archives and links, soaking up more knowledge. We live in Columbus,

> Ohio, USA, and I would love to have recommendations on good doctors.

> We are willing to travel a far distance for good help. In fact, we've

> already been to the Cleveland Clinic and Mayo Clinic-Rochester at

> earlier stages of this saga. So my son already has records at both of

> those clinics and we could return if someone knows of a good doctor at

> one of those places. Thanks again for all of your help, Debby

>