Newly diagnosed but chased this crazy disease for 4 years...

[jennn1971]

My 19 year daughter was recently diagnosed after 4 years of chasing this disease. She originally had complaints of sinus pain and the doctor thought because the sinus CT was normal we were nuts. (his words) The doctor scoped her and saw the lining was eroded and bleeding. Thank God for cell phones because she takes pictures of every new problem she has. Its hard to ignore the pictures of what she blows out her nose. She had a nasal obstruction and the doctor did a septoplasty and reduction of turbinates. He said that she had the worst nasal adhesions he had ever seen (he was old) and within 2 months they were back and now she had a saddle nose deformity. We were sent to University of Iowa for a rhinologist who looked at her nose and said she had allergies. Sent to a facial reconstruction/plastic surgeon who was smart enough to say hey you are 15 no one should have a nasal obstruction. He tested her for Wegeners and her ANCA was positive but it was a pANCA so Iowa started testing her for Chrohns. Avery started coughing up blood every day. We went to Mayo to see Dr. Reed and she couldn't diagnose Avery because of a negative nasal biopsy there and just said sorry, it will always be a potential diagnosis and sent us home. Iowa decided she had a lung issue like cystic fibrosis or Primary Ciliary Dyskinesia because her PF studies were crappy, but, the genetic test for CF was negative. During this period she became MPO positive had an X-ray with a spot on her lungs so they hospitalized her and treated the lungs but would not let the rheumatologist treat her with prednisone and methotrexate. the pulmonologists and rheumatologist wanted another opinion so we went to St. Louis Childrens Hospital for a second opinion on her lungs. The PCD doctor there said no no no but I have a friend that is double boarded in immunology and rheumatology and squeezed us in. The said Avery's a "no brainer" and said she has active Wegeners. We have not had a positive biopsy but both the PCD physician and the rheumatologist thought her lungs were inflammation, not asthma or PCD. we want to start treatment but I just wanted to throw this by you all. Is this typical??

[Pete]

Hi Jenn,

Welcome to you and your daughter to "weggie world". Unfortunately, your daughter's story resonates with many on here.

It seems like your visit to Mayo was a case of being in the right church but the wrong pew. Mayo is a worldwide center of excellence for Vasculitis care and research. Perhaps you could get Dr Ulrich Specks or one of his colleagues at Mayo to examine and treat your daughter. She really does need to see a Vasculitis specialist.

The initial treatment will be to get the disease into remission. This will involve immunosuppressants and anti-inflammatories. One thing to consider with some of these meds is the impact on her reproductive health. This should be discussed with your specialist.

That said, the treatment regimen for induction therapy is evolving. Some doctors continue to use cytoxan and high dose prednisone to induce remission. Some will use methotrexate, and some are using rituxin. Once remission is achieved, your daughter will be put on a maintenance regimen. This could be methotrexate, immuran, cellcept, or periodic rituxin treatments. They will also begin weaning your daughter off prednisone.

Some of the other folks on here who have experienced saddle nose deformity can address treatment and reconstructive surgery.

There is a lot of knowledge and experience on this forum. Don't be afraid to ask questions, vent your frustrations, or share your successes.

Best to you and your daughter!

[jennn1971]

thank you for replying. Iowa City wants to treat her now that St Louis said to and they are following St. Louis' guidelines. I will check into that name thank you!!

[Dirty Don]

Welcome Jenn, and Avery too...yes, most of what your daughter is experiencing is 'normal' or at least within the range of WG symptoms. In Avery's case, I don't think a biopsy is necessary (some biops are nasal, the most revealing are lungs) and the docs need to get her on the right drugs as Pete suggested; there are many options for docs but they need to choose the right ones for her. Thus, she needs WG experienced docs, not ones who are reading out of a book. Hope St Louis can help in that respect. Hang tough, be patient, stay with the given protocols as they work, and best to you both.

[Birdie]

Hi Jenn,

I can't add anything to what Pete and Dirty Don have already said, they said it much better than I could have. Instead I'll just tell you to keep studying, the more you know the better you can manage her care. Your post sounds like you already have a very good start understanding what's going on.

OK, so maybe I have one thing to add. I'm guessing Wegeners was given as a posibility when you joined this forum in 2012? That makes me think her WG is in the less severe category, which is more likely to be easily treated.

Be positive,
Gary

[whatthewhat]

Gary - just a side note, in my experience Wegener's moves in pediatrics (which this would be) differently than in adults in that it is much more aggressive. Knowing what I know now, after getting to know pretty intimately dozens of young weggie's cases, I would be very eager to hit the disease hard and fast.

[whatthewhat]

Jennn1971, my heart is with you. I would not hesitate to proceed with the most aggressive treatment that is suggested, and I would also strongly urge her to be tested by other specialists who commonly get involved with Wegeners: pulmonologist, nephrologist, opthomologist. Hopefully nothing show up in CT scans etc, but she will have baselines for her annual exams. There are many pediatric cases of Wegener's; don't be misled by the under-reporting. Hugs from SoCal.

[mishb]

Hi Jenn and welcome to you and your daughter.

I so wish you had of posted this in 2012 when you joined. I'm sure many people on here could relate to your daughters symptoms and given you some helpful advice, as the others about have.

I hate it when the young ones get this crazy disease. I agree with WTW. She also has a young daughter with WG and her suggestion makes sense.

I hope your daughter gets started on some treatment very soon.

Big hugs to you both, from the other side of the world

[Alysia]

Welcome back to the forum. My heart is going out to you & to your daughter.
When will those docs learn that nasal biopsy can be false negative (I had 2) and that saddle nose is our "stamp" ? Sigh...
She sure needs strong treatment asap. Rtx can be the best. Hang in there. Once she will start, she will soon get better.