Questions about getting Diagnosed

[Amy]

Hello,

Six months ago I was a completely healthy, never go to the doctor except for the annual check up, active, working mom. Then all of a sudden, I started feeling nausea, weight loss and fatigue. I thought it was viral at first, then maybe that I was pregnant. Finally went to the doctor after about a month and a half of this, while the weight seemed to be just falling off me. He took the wait and see approach, then when I was still losing weight a month later, he sent me to a GI specialist who did a full work up. He treated me for Irritable Bowel (tried tons of pills but none of them alleviated the symptoms) but hee was worried that perhaps the pain and weight loss were due to Bowel Ischaemia, so sent me for CT scan. There was a problem with the contrast dye (I’m allergic to shrimp, so they didn’t give me the dye for some reason), so the test was inconclusive for the Ischaemia. (GI specialist later wondered if the suspected Ischaemia was a sign of Vasculitis.)

The GI specialist and GP were stumped. They kept running blood tests. One came back positive for P-ANCA (Titer 1:1000) and another showed that there was protein spilling from my kidneys. My symptoms started to get more and more strange: Skin rashes, cough, terrible and excruciating flank/abdominal pain (worse than childbirth, if you can believe it), tingling in my neck, tongue and extremities, shortness of breath, difficulty breathing and extreme fatigue. I was so debilitated that I had to go off work.

My GP thought that the signs pointed to a Pauci Immune Systemic Vasculitis (like WG) but wasn’t prepared to make a diagnosis, because he had never seen it before. He referred me to a Rheumatologist and waited patiently for the Rheumatologist appointment. I was really hoping for some kind of a diagnosis. When I got the appointment last week, the Rheumatologist just threw up his hands and said, “I have no idea. I can’t put this together.” And that was it. I was stunned. I told him that if he didn’t know, he had to send me to someone that did. I was desperate for some relief! I had the name of the Vasculitis clinic at Mount Sinai in Toronto and asked him to make a referral for me to go there. He seemed reluctant but said that he would.

See here is where I am. I feel strange about posting here because I don’t have a diagnosis of WG, but I thought maybe if I posted here, I could get your thoughts and experience on how to proceed. I feel like I’m getting worse, and I just don’t even know what to do. I have a family to look after and I can’t even do that. I’m frustrated and even though I’ve always been an incredibly positive person, I feel myself getting really down.

Thank you. I have read many of the posts on this site and you have such spirit and energy despite your struggles and I admire that incredibly.

[drz]

Based on your post I would ask the GP to arrange the appointment to the Vasculitis center. He might make a stronger case to get you seen sooner. Many of us here have had many of the symptoms you describe but there can be other causes than Vasculitis so you need to be evaluated by some one experienced in diagnosing Vasculitis. Hope it happens soon for you.

[Sangye]

Hi Amy, nice to meet you. Please don't feel odd about posting without a definitive diagnosis. We have members who are in the same boat.

Given your symptoms I'm having a hard time understanding why that rheumy can't figure it out. The only symptom that doesn't point to Wegs is the tingling in the neck, tongue and extremities. (Those symptoms could be due to Wegs, but they just aren't the usual ones.) I suggest you get to Mt Sinai asap. You have to hit the ground running with Wegs.

Meanwhile, you need to keep a very close eye on your kidney function. I suggest you get your urine checked at least weekly until you can get to the Mt Sinai docs. If you do have Wegs, your kidneys can fail quickly, without symptoms. Ask your doc to get you some urine dipsticks to use at home every day if possible. You can monitor your protein and check for blood. If any symptoms worsen suddenly, get to the ER right away and ask them to order blood work for kidney function and a urine test.

[chrisTIn@]

Hi Amy.
I hope you 'll soon get the right diagnose, and proper treatment.
Wishing you all the best.
Let us know about your appointment at the Vasculitis Center...

[elephant]

Hi Amy, hoping you get to a Vasculitis specialist soon. Everyone here has different kind of symptoms of WG. The tingling could be a sign that your blood vessels are inflamed which is a sign of any vasculitis condition that effects blood vessels ( all kinds). The two weird tingling I had before diagnosis is tingling of hands and left side of my head.
Be persistant and don't let any doc get in your way for proper treatment, if you need to get mad..get mad. I had to once, and the docs took notice.
I am a mom of two kids and I understand how hard this can be, trying to take care of yourself and family. Wishing you the best.

[misskay]

Amy, you mentioned cough and shortness of breath... have they bothered to do a chest x-ray? My WG began with a rash, fever, fatigue, weight loss and cough... My WG was confirmed through bloodwork and open lung biopsy. Nasty procedure, but worth it in the long run to get a definitive answer...
Hope you get in to see a specialist soon, and they can finally give you some answers. I understand about feeling down... we all do. Most if not all of us led healthy, active lives until WG. Feeling down is normal, but try to turn the 'down' into 'determination', and 'anger' if need be to get the docs off their butts and find out what is going on.
Best to you, and please keep us posted.
btw- can you describe the tingling in the fingers? Do they feel cold? Discolored at all? Funn, splinter-looking things under the nails? Could be vasculitis in the fingers due to the small blood vessels not getting enough blood and oxygen.

[JanW]

Hi, Amy, because you say that you are positive P anca and NOT c ANCA (which is what many of us weggies have), your rheumy might look at Churg-Strauss Syndrome or microscopic polyangiitis as two possible differential diagnoses to rule in or out. Both are vasculitis, and are sometimes treated by the same specialists that treat WG (although WG is still the most common of these rare diseases). I am not aware of WG presenting with a positive P anca. CS is often misdiagnosed with asthma because of classic shortness of breath symptoms. Very easy to rule out by testing for eosinophil granulocytes ( a blood test -- I had this done in the process of getting my dx), and since it also affects the gut moreso than WG, generally (I don't see horrible gut pain as among one of the more frequent symptoms people here end up with), this could be a clue.

In addition to Mount Sinai, there is a vasculitis center in Hamilton ONT, if that is closer to you.

[Amy]

That's good advice drz. I know how important that referral is in how soon you are seen. I will follow up with the GP. Thank you.

[Amy]

The kidney function is what I am most worried about. I have read that the kidneys can decline very quickly, but my GP doesn't think that there is anything that can be done to prevent kidney failure, even if we did catch it early. After I read your post, I called our pharmacy and my husband bought the dipsticks. I tested my urine and there was a moderate amount of blood and a trace amount of protein. That doesn't seem very good to me :(

[Amy]

Thank you. I will :)

[Amy]

That's interesting about the tingling. It makes sense actually. Thank you for sharing that you had to get mad...It's not really in my nature to be that way, but maybe that's the only way to get things done!

[Amy]

Oh gosh...a lung biopsy, but I guess you do what you have to do to get the right diagnosis. Yes...I have had a chest x-ray. It's come back completely normal. I am taking your advice. I am going to be determined and angry if I need to be. I actually am feeling that way already! It's not what I want to do, but you have to play the hand you are dealt!

My fingers and toes both alternate between being cold and blue/purple, normal looking and temperature, and being red and hot. I can't really predict it. I don't have any splinter looking things though.

[Amy]

Sorry everyone...I thought that I was replying to each person's post and not I've realized that all my posts are at the bottom :(

JanW - That was my question actually. I tested negative to C-ANCA. Does that mean that WG can be ruled out definitively? I will write down the test for eosinophil granulocytes and ask my doctor about it. Thank you for the info.

[elephant]

Don't worry about it Amy. With any Autoimmune vasculitis disease can be so overwhelming, so there is so much to learn. Even though I am a experience RN I never ran across a WG patient. So I had to learn about this disease by doing research and asking many questions on this forum and then questioning the doctors. You will get so much information on this forum and will help you.

[Jack]

I'm afraid that there are no test results that will rule out Wegener's or many to confirm it. The disease is notoriously difficult to pin down and it is often a case of an experienced doctor weighing up the probabilities. A positive biopsy showing Wegener's granulomas is the only solid evidence, but this is often difficult or impossible to obtain.

[drz]

The kidney function is what I am most worried about. I have read that the kidneys can decline very quickly, but my GP doesn't think that there is anything that can be done to prevent kidney failure, even if we did catch it early. After I read your post, I called our pharmacy and my husband bought the dipsticks. I tested my urine and there was a moderate amount of blood and a trace amount of protein. That doesn't seem very good to me :(

I would question his statement. Early aggressive treatment can head off lots of complications from Wegener's. My kidneys were failing before I got diagnosed and I believe they would have failed if my treatment had not been very aggressive. Eventually they recovered partially so I have about 50% kidney function now. Blood and urine tests are needed to monitor kidney function cause you won't notice the loss of function in your feelings until it is very advanced. See a nephrologist as soon as you can and get pushy about getting in to see a vasculitis specialist.

[Sangye]

Amy, I agree with everything the others have said. Your rheumy is completely wrong about being unable to prevent kidney failure. It's exactly how drz said it--gotta treat it properly and immediately to prevent, minimize or even reverse damage. I'm very concerned that you have moderate blood in your urine. Along with your other symptoms it doesn't sound like you can wait. I suggest you demand an emergency referral to Mt Sinai. You need to get in yesterday.

[Jack]

Even though a lot of members have kidney involvement there are very few of us with transplants or requiring dialysis. I think this proves that it is entirely preventable with correct treatment.

[JanW]

Amy - It's not you negative C-anca that concerns me as much as your POSITIVE p-ANCA. Anyone with internet access can easily see which two or three AI diseases this correlates with, so I really don't understand why a rheumy could not. You can certainly have WG and have a negative C-anca, but a positive p-ANCA generally points to a related (in the sense that its vasculitis), but not the same disease.

They all have the same awful (likely fatal) outcome if not treated, and a doctor at least somewhat experienced with vasculitis will be able to diagnosis one vs. the other. My only quibble with Jack's comment is that I would say that researchers believe that positive C-anca in addition to elevated P3s and symptoms are 'solid' evidence of WG -- many people aren't getting biopsies prior to diagnosis, unless they have granulomas in a part of the body where this is easy to do. So please don't think that you will need to have what could be an extremely invasive procedure (e.g. lung biopsy) to get to an diagnosis.

[Jack]

I agree that a combination of all these without a +ve biopsy result can be considered as solid evidence and it is the basis upon which many on the forum have been diagnosed. What I was trying to highlight was the fact that you can still have Wegener's even if some of these results are not as you might expect, but there is no arguing with a +ve biopsy showing necrotising granulomas of the type associated with Wegener's..

[Amy]

Thank you so much for all your insights on this. I really appreciate it. I am going to keep fighting, but it's a very frustrating process.