Thursday, February 19, 2009

Systemic Mastocytosis

I saw Dr. Vadas in Toronto yesterday. If I may comment, he's compassionate, thorough, informed, caring and patient. He specializes in idiopathic anaphylaxis and is Head of Immunology & Allergy at St. Michael's Hospital in Toronto. I was there for almost 3 hours with him. He says he's 99% sure I have SM but the only way to tell for sure is to do the c-kit mutation test...which is another bone marrow biopsy. He thinks I've been through enough already, including a bone marrow biopsy (bmb), and it can wait because quite frankly the only thing it would do is tell us is what we think we already know and he said it would be sort of like just finding the answer and closing the question door.

I told him that I just want my quality of life back and to be well. He laughed nervously and then leaned forward and said to me, "Fiona, dear, THIS IS your life. This is it. All we can do is try to make you comfortable. There is no cure for this disease at this stage, we're looking, but we have to try to minimize the anaphylaxis reactions and keep you comfortable. So we are going to try a combination of drugs..." Plus, I have to do all the things I'm already doing.

So, I'm on Gastrocom now. On top of everything I already have. And, am to continue following protocol for the anaphylaxis when it hits. And to continue to be isolated; keep safe. He says it's a good job I'm already on Long Term Disability because I need it.

He says there are three types of this disease. The leukemia kind; the kind where you have a positive bmb and uticaria pigmentosa, itching, etc.; and the kind that I have with no positive regular bmb (because it's not about having TOO MANY mast cells, so much as mast cells that don't behave properly) repeated anaphylaxis, skin flareups, digestive disorders, severe osteo-arthritis (which my orthopedic surgeon found last week when he did my knee surgery), joint swelling and pain; bone pain, flushing, itching, severe fatigue, etc. And then there's the day to day feeling like shit that comes with all of this. We talked about that too.

I hadn't realized until recently HOW itchy I am a lot of the time. Not all of the time though. I think I've spent an inordinate amount of time being 'out' of my body so that I can't feel it. Because when I permit myself to be REALLY present in this skin, I'm itchy. Especially during flareups. Dr. Vadas says I'm not crazy that the shower totally aggravates this too!

We talked a LOT about triggers for me. Heat and cold, especially the extremes. We've ascertained that it's definitely aggravating or causing flareups. We had a joke about living where we live, and how not good for this disease it is. But, this is where we live...

Then there's foods, alcohol, drugs, emotions, latex, chemical sensitivities, bees/wasps...we talked about that too. I'm not to get any venomous snakes any time soon.

He gave me some handouts on Dr. Cem Atkin's work on this indolent form of Masto. He told me it's a super rare disease and that it will take some time for my primary care providers up here in Parry Sound to start understanding what I'm dealing with. He thinks, like I said, that doing another bmb (especially because I go into shock with lidocaine and xylocaine, so I can't have any freezing for it) wouldn't change how we manage me, because it's obvious that I have some sort of mast cell degranulation issues. So, we are going to assume it's SM because, as I mentioned, the treatment and management are the same. All my other tests results and my clinical history point in the SM direction. Glaringly so.

I go back to see him in 6 weeks, am to ring him if I have anaphylaxis in the meantime, and we'll talk about the bmb then. Like I mentioned, he said it's more a question of "I have a final answer", as a patient, that will change for me with the bmb, not a change in management. He thinks it's too much pain and personal suffering for a final answer when we have this much info. already. And, he urged me to come to terms with this disease. It's real. It affects me. It's changed my life. It can kill me. I'm not crazy. It's time to start living WITH this disease instead of hoping it will go away, because it won't. There is no evidence to suggest that anyone has spontaneously corrected themselves, and there's no cure.

So, that's 4 doctors/specialists who think I have SM; and 1 who doesn't (she was only looking for the leukemic form of the disease.)

Ironically, stress and emotional upset/joy can cause flareups too. So, Ican't even get upset about all this! ha ha sniffle ha ha.

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