Multiple Diagnosis, Wegener's, ANCA Associated Vasculitis, Still's Disease + More

[amysmom]

It is a very long story but I will start with a condensed version. My Daughter(30) got sick, flue like symptoms, around the 1st week in March, 2010. While in the ER her right foot went numb(foot drop) within a little while, the numbness turned to extreme pain(neuropathy. The numbness and pain traveled up her leg to just above her knee and and stayed. It wasn't long until her right hand did the same thing. My daughter was in agonizing pain and there wasn't a thing that I could do.*Fast forward* She was admitted and the tests began, They finally got her semi comfortable with heavy duty pain meds. Tests, tests and more tests, every test was abnormal. Her spleen, liver, kidney and lymph nodes were all enlarged. They though that she had Lymphoma. She had a bone maro biopsy on her birthday, it was negative. I have to give them credit, they never gave up on her. She had so many Specialists, I could never list them all. The next test was to be a biopsy of a lymph node on the back of her kidney. A Rheumatologist checked right before that was done and ordered his own bunch of tests. Within a couple of days he had a diagnosis(well at least a partial one) By this time she had been in the hospital for over a month. Another strange symptom was that she would spike a temp of 103 every night at 7:00pm. You could set your clock by it(Symptom of Still's Disease). He diagnosed her with ANCA Associated vasculitis, Mononeuritis Multiplex,HTN,Vasculitic Neuropathy, and Peptic Ulcer Disease,and Still's disease.
The Wegener's Disease diagnosis came later though the symptoms had been there for a long time.

Part II Later

[Sangye]

Hi amysmom, nice to meet you. I'm sorry your daughter has been through so much. Acute, simultaneous onset of Still's and Wegs-- very unusual. Did they do any testing for toxins or was she exposed to anything unusual in the couple months prior? Things like pesticides, carpet cleaners, vaccinations, etc.... The reason for checking on it is to avoid further exposure which could exacerbate the conditions or cause new ones.

[elephant]

Welcome Amysmom, thanks for sharing her story and please let us know how she is doing time to time. Take care of yourself.

[amysmom]

Well another very long day full of tests and an appointment with the Pulmonologist. The PFT did not go as well as we had hoped. My daughter's lung compacity is 40%. The Doctor said she has the lungs of an 80 year old woman, she is 31. :sad: She was also diagnosed today with severe COPD.

Sange, everything that has happened with her has been very unusual. She was not exposed to anything toxic that we can think of.

Elephant, thanks for the welcome!

[Sangye]

What is their explanation for her lung difficulties?

[vdub]

WOW! You and your daughter have really been put through the wringer. I hate to hear stories like yours, but our disease is rare enough that it often goes undiagnosed for a long period of time. Believe I read somewhere that the typical diagnosis takes 18 to 24 months. In my case, I had symptoms (lymphnodes and thyroid) in May 2008. Conclusive diagnosis didn't come until May 2010. Keep us informed, use the site to vent, ask questions, etc. Welcome!

[amysmom]

What is their explanation for her lung difficulties?

I am just learning about all of this but wouldn't the Wegner's & the COPD account for her difficulties?

[elephant]

Amysmom, I was told the same thing by my pulmonologist a 18 months ago. He stated that parts of my lungs were of a 80 year old. But I improved within a year. So don't give up hope. I was prescribed many meds for COPD and I took albuterol as needed and never even used the advair. Have her tested again in about a year. Keep us updated.

[Sangye]

I am just learning about all of this but wouldn't the Wegner's & the COPD account for her difficulties?
I meant what lung involvement does she have with Wegs that would cause problems. Some people have granulomas (nodules) and others have hemorrhaging. Some get both. Scarring (fibrosis) can also occur, and is seen on x-ray and/or CT.

COPD is not normally found with Wegs. Was she a smoker or exposed to smoke?

[amysmom]

Listed below are the organs commonly involved in Wegener's Granulomatosis and the specific disease manifestation(s) in each organ.

Ear
Eye
Nose
Sinuses
Trachea
Lungs
Kidney
Skin
Joints
Nerves

Sangye, I think that maybe the Doctors have made the diagnosis of Wegener's with my daughter due to the over all involvement rather than solely the involvement of the lungs. She has involvement in everything in bold above. I wish that I could give you a better answer but there is so much that I am unsure of at this point. Based on testing: Biapical pleuroparenchymal scarring, increased number of 10mm and subcentimeter gastrohepatic liagment and retroperitoneal lymph nodes. There is also mention of Bilateral Air movement decreased in bases.
They are also checking alpha-1-AT given her young age and severe reduction in FEV1.

Please feel free to decipher any of the above info taken from the Doctor's report.

[Sangye]

I hope I'm not taking too much of your time and energy with my questions--please tell me if I am!

On what basis did they make the diagnosis of Wegs? It's generally a combination of symptoms, diagnostic imaging (eg lung CT showing nodules), a (+) ANCA test, and (+) biopsy.

Has she had years of difficulty breathing? The lung scarring suggests that, since it doesn't develop overnight. (Basically the report says she has scarring at the top of both lungs, an increased number of lymph nodes in parts of her abdomen, and she isn't getting enough air into the deepest parts of her lungs.)

[ScreaminMeanie]

Amysmom, what a rough road your daughter is traveling. I sincerely hope you get some answers and get her on the path to a successful treatment ASAP. We appreciate you taking the time to answer all our questions, and hope that we can be of some assistance to you and Amy.

[LisaMarie]

Sorry to hear about your daughter...i am a new weggie too.....been dx almost a year....hospitalized this fall for resp failure...but now finally have a clean CT of my lungs......going to Mayo in February in MN ...praying for answers and coordination of treatment.....i have tracheal stenosis, sinus involvement, r hearing lost,r mandible lesion and salviary gland on right side involvement...and Lord Knows what else.....so just take it one day at a time and tell her to keep her chin up....this is where we come to vent rant rave and support and of course try to make light of ourselves too:flapper:

[amysmom]

I'm not real sure exactly what the Doctor based the diagnosis of Wegener's on. She is (+)ANCA, has had severe sinus problems for years, shortness of breath with minimal exertion, crusting in her nose(what causes that anyway?) reoccurring kidney infections. The Doctors are great to spend time explaining things and answering questions but there is just never enough time.
I appreciate your concern and hope that you will continue to share your knowledge with me. I feel that I must learn & understand this in order to help my Amy.

[Sangye]

I suggest you ask them specifically how they diagnosed the Wegs. Those findings alone are not sufficient. Kidney infections are not an indication of Wegs kidney involvement, though they can occur with Wegs. They should see changes in the kidneys that are characteristic of Wegs. Her shortness of breath could certainly be caused by the scarring in her lungs. As to what caused the scarring...could be Wegs, but they need to demonstrate that. (Usually they see nodules/granulomas or bleeding in the lungs on x-ray and/or CT.)

Have they done a biopsy? A lung or kidney biopsy would be preferred test, since sinus biopsies are often (-) or inconclusive.

Also, I know she's had tons of docs on her case but has a VF doc consulted and agreed to the Wegs diagnosis?

[amysmom]

Sangye, Next appointment I will ask that. Thank you all for your interest and information.

[Sangye]

I hope your daughter keeps improving and feels as good as new very soon. :smile1:

[Deanne Hull]

welcome anysmum

I hope you daughter gets all the help she needs looks like they are on the right track. best wishes i do hope she improves very soon.


Deanne

[amysmom]

I found my way back to this Forum! So much has happened since I posted here last. I wish that I could say that my Daughter is all better but unfortunately that is not the case. The past 5 years have been a wild rollercoaster ride. She has numerous health problems/DX and spends more time hospitalized than not. Side effects from meds are an issue right now. Due to her immune suppression from(Cellcept) she is currently dealing with CMV(CYTOMEGALOVIRUS)Hepatitis. She also picked up Mycobacterium gordonae in her right lung. Both of these are not normally serious in a "normal" person but in the immunosuppressed it's a different story. Did I mention a grapefruit sized abscess containing MRSA in her lung? I know that these are life saving drugs as is Prednisone but carry serious side effects and leave you susceptible to lots of nasty things. She also has 2 fractured vertebrae that they contribute to long term use of steroids.Her labs are all over the place. Spleen is enlarged as well as her liver. There is a host of other issues both autoimmune and drug related.I could go on but I think you get the idea that things are not good. On the bright side she is currently -ANCA. Question or comments welcome. Thanks for letting me vent. It is just one of those days...

[Pete]

Vent away!!! That's why we're here. Sorry your daughter is having such a rough time. Hope she starts getting better soon.

[Sangye]

I am so sorry to hear that she's doing poorly. Those are all such serious problems. I hope Amy is getting excellent care at a major hospital. Let us know if there is anything we can do for you. You can private message me if I can help you in any way. I'm not on the forum much but I do respond to private messages as needed. Hugs to you for hanging in there. :hug2:

[Jayne 14]

Sorry she's having such a tough time
Great place to vent here & get support



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[annekat]

I'm glad you took the opportunity to vent. I'm sorry you have so many reasons to do so. Did Amy finally get a Wegener's diagnosis, and has the disease itself been brought under some control? You did say she is ANCA negative, but we know that isn't always an indicator; in her case, I hope it is. It's so sad that the meds she's had to take have had such negative effects. It sounds like she has multiple issues which may or may not be related directly to WG. It does seem they are mostly related to the effects of immunosuppression. I hope she is getting the best possible medical care and plenty of follow-up from specialists in all the areas she needs help in. This was probably shared above, but here again is the list of Vasculitis specialists approved by the Vasculitis Foundation: VF Medical Consultants (http://www.vasculitisfoundation.org/mcm_resources/medical-consultants/) . They will consult with docs free of charge, as I understand it. Even if the vasculitis is under control, they may be able to recommend docs to deal with the issues resulting from immunosuppression. There is a new website with a list of docs recommended by patients in different geographical areas; it is not fully constructed yet, and I'll update people when it is. (It was formerly the VPAN site.)

I could go on and on, but I really just hope and pray things can turn around for Amy, somehow,and soon. Hugs to you both. :hug2:

[Jaha]

Amy's Mom,
I hope that things start to turn around for Amy quickly. It sounds like she is very sick right now and I wish her strength and the best care to get her to recovery. My thoughts are with you both.:hug2:

[amysmom]

Thanks Pete. It does help to vent once in a while.

[kaysee]

Sorry to hear of all these problems for your daughter. Venting is all we can do sometimes to cope with what is going on. I will pray that your daughter starts having some good things come her way. Don't give up the fight.