Has anyone had trouble getting diagnosed? Desperate and starting Organ failure

[anita]

I first started having symptoms two years ago, mostly sinus and ear related and went from being full of energy, always happy, constantly working out, and loved trying new things., in addition to running a successful private estate firm. Within a few months I could barely make it to yoga and getting out of bed was a challenge. Let me add that 10 years ago my son died from a rare auto immune disease after a six year battle which included a bone marrow transplant. I have a surviving daughter who is amazing. You never truly heal from burying a child but you do learn to continue on as that is what they would want. Which is why I refused to believe when I knew there was something wrong with me that after 10 years the initial doctors response was stress. Medically things went down hill from there, pettichiae, skin rash, repeated bouts of EBV positive pneumonia. Then in May 2013 I was diagnosed with bilateral anterior and posterior SCLERITIS accompanied by an almost complete loss of vision and pain which I can only describe as an electric knife constantly cutting horizontally through both eye orbits. I failed on steroids, failed on humira, was currently taking Imuran and then during this time two niodules were found on my right lungs that were not there three months ago. So all immunosuppression was stopped until I had it scanned and saw a surgeon to ensure it was not infections or malignant. I saw the head of cardio thoracic surgery at University Hispitals of Cleveland, he confirmed it was not malignant, not infectious and basically said it has to be vasculitis. A biopsy was out of the question for based on the nodes on location it would require my entire lung to be removed and he said it was much to risky a surgery. Meanwhile takes scleritis, nodes on lungs, sinus issues and the only disease that connects them all is Wegners, the problem is my ANCA kept coming up negative. Keep in mind I was on immunosuppressants. When checked my urine always tests positive for blood, protein, leukocytes(non infectious) and then started getting frequent UTI followed by kidney infections which showed dialated ureters and lab and scan may be showing early signs of kidney failure. For the past fifteen months my scleritid is not yet recovered. I AM ON 8mg per kg of Infliximab every four weeks, self inject methitrexate originally started 20 mg weekly, but since I am only getting worse I am now on 40 mg sub q injection every 5 days. ANCA STILL NEGATIVES, which I have been told by many docs that it often does not produce a positive result in many patients with Wegners and other vasculitis. My disease and pain and fatigue are only getting worse and every doctor I see emphatically states it's must be Wegners and why hasn't anyone added Cytoxan or Cyclosphamide for three months which would then along with my other meds constitute a Wegners protociol. Here is the problem no one is willing to add Cytoxan, or cyclosphamide without a positive blood or biopsy test.
I am not a paranoids or negative person, but my disease and labs continually to decline, my opthamologist (and I have received a consult from Foster) state most people respond to Infliximab if it is just Scleritis. Well I have been on it for 18 months and I am beyond frustrated as every physician states the same prognosis. I must add my opthamologist (uveitis and scleritis specialist is the doc that orders my meds, I am no longer seeing a rheumatologists for she and they as a group prefer to start on low dose drugs, 18 months ago I would have gonna permantly blind had eye doc not insisted that this disease has to be hit hard and strong. He also agrees all my symptoms point to Wegners but is not comfortable ordering the Cytoxan or cyclosphamide, even though I go to the cancer center for my Infliximab infusions.
Any suggestions on what or where to go next? My doctors all state they are very concerned about me. Symptoms keep coming up, I was referred to palliative care since they have better access With major narcotic for the scleritis pain which is almost unrelenting now.
if anyone has any suggestions I would be grateful. I don't understand, opthamology, pulmonology, urology and nephrology all say the same --- but no one will risk prescribing Cytoxan or cyclosphamide without positive Anca,although my nephrologist half jokingly said they will start the drugs when I am heading into kidney failure. Do I really need to wait for that? Any suggestions would be gravely appreciated.

[Pete]

You may want to get an appointment with a Vasculitis specialist at Cleveland Clinic. I see Dr Alexandra Villa Forte there and strongly recommend her. Others on this forum see Dr Carol Langford there, and she gets high marks as well. Unfortunately, the Vasculitis Foundation lists no docs from UH on its list of consultants. Given the competition between these two hospitals, I doubt that a UH doc would refer you to CC (my opinion).

[kaysee]

I agree with Pete. Since you doctor in Cleveland anyway get an appointment at Cleveland Clinic ASAP. I am surprised your nephrologist has not done a kidney biopsy. That would confirm WG.

Karen

[mishb]

Hi Anita and welcome to the forum.
I am so glad you have found it.

I agree with the others about Cleveland Clinic. I have only heard and read great things about it.

You have been through so much already and I agree, no-one should ever have to bury their child.
You have the stress of that which cannot help with the symptoms that you are having.

Many people have been diagnosed whilst having a negative answer. A biopsy really is the way to go in my opinion.
I know you said the lungs are too difficult, however surely they can get a sample from your sinus.

I also had scleritis and uveitis as part of my initial symptoms prior to diagnosis.

I hope you find answers and get the medication that is required to help making things right.
All the best of wishes to you

[mrtmeo]

As Karen said, get a kidney biopsy to confirm vasculitis and get treatment right away.
As others said, go to the Cleveland Clinic because they have some of the best in the world for vasculitis.

I don't know about scleritis, but my mom had keratitis which responded to prednisone and cyclosporin from opthamologist.
Sometimes, punctal plugs will help keep the eyes lubricated so that they don't dry out.
2 months after Rituximab, the eye pain went away and has not come back.

Don't wait any longer because the kidneys can fail so quickly and early treatment can save them.
Rituximab works slower than cyclophosphamide, but many weg's folks respond well to it.

[annekat]

Welcome to the forum. I'm glad you found us. Everyone above has said the right things, and yes, you are lucky you are in Cleveland and can see the top WG docs at CC. My personal gut feeling is you should hit it with with Cytoxan to get the kidneys and everything else under control fast. You could always take Rituxan later if it seemed necessary. But I'm not a doctor. CTX worked well for me. My ANCA was barely positive and my doc doubted I had WG, but a nasal biopsy proved otherwise, plus the fact I had developed a saddle nose, which made it kind of obvious. The top docs such as those at CC know how to diagnose and treat without every test result being conclusive. You do need some serious meds soon.

[renidrag]

Welcome Anita, as everyone here has said the CC is the place to be. Your symptoms require a strong med such as CTX. I did nine months on it and ended in remission for over four years.
Dale

[marta]

Hi Anita,

First of all I am sorry for the horrid ride you've been on. Sounds awful, and the lack of forward momentum by the medical professionals is frustrating to just read, I can only imagine how it is when you're in it.... well, actually I don't have to imagine because I think most of us on here have gone through doctor's knuckle dragging at some point of our journey. I understand why they are hesitant to start treatment, but it also gets me angry. The drugs that are the so called 'big guns', of which there are only two in Wegener's (CTX and RTX - Cytoxin or Cyclophosphamide - same thing, and Rituxin) are pretty potent agents. The risk benefit ratio is not a good one if the diagnosis is wrong, but it's the only one if you are in the midst of severe disease activity, which by the sounds of it you are. You are in the thick of it. So in my opinion (and that's all it is - based on my experience and the knowledge I've gotten from this crew) you need to find yourself a WG doctor pronto, and being close to Cleveland Clinic is a godsend. Those guys will have no problem initiating the protocol. Many people don't have an ANCA positive, I was one of them. I had very high ESR, but ANCA was nothing to write home about, so they'll know that and be able to make some life changing decisions quickly instead of being more worried about litigation than patient wellbeing. The longer you let it fester, the harder it will be to stop the progress and also the more damage to internal organs. Act fast, get away from the guys who can't help and find some that can.

Just over 30 years ago or so, they discovered the protocol for this disease, and it wasn't steroids alone and it wasn't immune suppression alone.... it has to be both, and if you're in it like you are, the immune suppression has to be a 'big gun'.... The stuff they have you on is maintenance protocol, but you can't go there unless you've dealt with the flare - which your docs haven't. You will be absolutely blown away by the difference you feel in your body (from where you are now) once the treatment begins properly - High doses of steroids, and CTX or RTX. I felt a difference within a day - the stabbing, knife cutting pain you speak of.

The hard thing is that you have to really stand up for yourself at a time when you barely have enough energy to stand. But remember that this disease isn't something to play with. If they're telling you that they think it's WG/Vasculitis and not giving you the proper treatment, then they should be held responsible if things go downhill. You've gotta push/advocate for yourself, and if you don't have the strength, bring in someone who will. This isn't a cold. It's not an infection. This is a life threatening, incurable disease that has to be managed for the rest of your life. Remind them that if they do their job right, you can be a guaranteed source of income for them for decades to come. Chronic illness is big business, and now you're the customer for their medical services.

Take care of yourself, and welcome to the forum that literally saved my life. There is more good info on here than you'll find anywhere on this planet when it comes to this disease.

Stay strong and know there is a light at the end of the tunnel and it's not a train.

[renidrag]

I'd like to like that twice Marta, oh I did.
Dale