We’ve been in waiting mode since getting back from the NIH. Everything has felt quite up in the air. First of all, we were waiting on orders. Where are we going to live? We’re headed back to Sea Duty. What will managing Tomasities look like on Sea Duty? Secondly, we’ve been waiting for the genetic testing results.
I was told that I’d be tested for the SDHD/SDHB mutations only as part of the NIH’s research protocol. I was told that it would take at least two months to get them back.
It’s been two months and three weeks. Not that I’m counting or anything. And it’s not like I wake up every day and wonder if today is the day that I’ll get the call. It’s not like I hold my breath every single time the phone rings and feel both let down and relieved when the caller I.D. doesn’t say, “Health and Human Svcs.” It’s not like I’m sending an email to Karen every week saying, “Are the results in yet?” leading her to put me on her top ten list of pain in the tuckus patients. It’s not like I’m feeling a little nutty about it all.
Really. It’s not.
You don’t believe me, do you?
Last week we got the news that we’d most likely be staying here. Today we got the hard copy orders. So that’s settled. We're gearing up for Sea Duty and with that comes plenty of it's own wonderings and ambiguity, but at least we're not planning a move on top of it all and we know where Andrew will be employed.
So now I just need to know if I have a mutation/which one it is.
What’s the big deal about the mutation you ask? People kind of look at me funny when I say that I'm anxious about it all. Talking about it in terms of letters and mutations seems to remove people from thinking about it as tumors and disease. What's the big deals if a few of my genes are 'misspelled?'
I’m not sure if everyone in Pheo world would completely agree, but from where I’m sitting here it basically feels like I’m waiting to find out which disease I’m being diagnosed with. Or if I have a disease since a small part of me (and it might be the denial part of me) is still holding out hope that this could all just be sporadic.
If I find out that I have the SDHD mutation it will mean that I’m predisposed to paragangliomas and potentially pheochromocytomas. People with the SDHD mutation most often get them in their head and neck, but also sometimes in other parts of the body. I may have an adrenal pheo at some point. There isn’t a straight line progression. It doesn’t always happen the same way. And some people with SDHD, despite the fact that it’s considered low risk for malignant potential (around 10%), do indeed end up having malignant disease. The ‘genetic imprinting’ of SDHD would mean that my girls “most likely” would not develop tumors themselves, but could pass them on to their offspring if they were carriers for the gene. If I have the SDHD gene I will continue to be scanned twice a year and can back that on down the line other tumors will probably grow, though I suppose it could be argued that they might not.
If I find out that I have the SDHB mutation it would still mean that I’m predisposed to paragangliomas/pheos. It will mean that there’s a higher chance of them being functional and/or in the abdomen. It will mean that there is a much higher chance for malignancy (38-83% in carriers of the disease). Again there's no predictor for how or if it would all progress, but we'd know more about what to look for. The genetic crapshoot of SDHB would mean that I could have directly passed on the mutation to the girls. Again, I'd continue to be scanned twice a year and we'll deal with what we find from those scans.
I’ve never in my life hoped more fervently to get a ‘D’ instead of a ‘B’ on a test. I really don't want to have either of them. But the truth is, whichever one I’ve got, we’ll fight it and we’ve got the heavy duty folks on the team already. They’ve got my back and I trust that the procedures they follow will help us to root out these tumors so we can deal with them early and decrease the risk of complications.
I just want to know so I can wrap my mind around it, and so I can stop feeling crazy every time my phone rings.
In the meantime, since I just can’t let life be too boring I went ahead and choked on some chicken and had an emergency endoscopy under general anesthetic Monday evening. That was a typically Roseberrian crazy song and dance complete with an EMT body checking an agitated patient who had gotten in between my husband and our kids, and my being grilled by the surgeon doing the Endo. About the Tomas Surgery for a good 20 minutes. At least I got to chill out with some Valium for a few minutes.
We’re through that though, and things are fine and despite what I’ve written above, I’m not sitting and babysitting the phone and I’m not paralyzed with fear. I’m just anxious to know. Anxious to process it. Anxious to start to settle into what we're dealing with. Do you think anxiousness could make you choke on chicken?
Could be....
Could be....
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