Tuesday, November 6, 2012

October 25, 2010 - Let's get a physical, a physical

For me there was never any doubt that I wanted to get genetic testing to see if I had the mutation for fibrinogen amyloidosis. (I'm an engineer. I like data.). Since I knew I needed to be on the lookout for proteinuria and elevated creatinine levels, skipping my annual physical was not really an option for me in 2010.

On October 25 I had my annual physical with Dr. S. I brought a copy of the letter that Mom received from Boston with the results of her genetic testing and told him what I've been telling everyone else to tell their doctor regarding symptoms to be on the lookout for. He had the results of my labs that were done the week before and he said everything looked fine. Good news there, but not really surprising since this is a late onset disease, and we think Mom's symptoms first appeared when she was about 65.

Dr. S mentioned genetic testing for me before I even brought it up. I had a copy of the form Boston needed for submitting blood samples for genetic testing. I don't remember if it was Dr. S or one of the nurses that asked if Boston provided a kit of some sort for sending in the vials of blood. As far as I knew they did not. So I left that appointment with the action item of finding a kit of some sort for shipping three vials of blood to Boston.

I don't recall the exact sequence of events after that, but I know I eventually became very frustrated at trying to find a kit for my doctor's office to send blood. I remember doing the following things, roughly in this order:

  • I called Boston to ask if they had any kits, and if not, what they recommended. They do not provide kits, and basically said to wrap up the vials individually in a suitable packing material to prevent breakage.
  • I called Dr. B's office in Indianapolis. He does genetic testing for familial amyloidosis, having had a hand in discovering about half of the genetic mutations himself. Supposedly he does genetic testing for free. I asked his administrator if I could get a kit from them, and if not, what would they recommend. They don't send kits unless someone is sending blood to them. Again, she said to just wrap up the vials so they don't break.
  • I went to the lab where we go to get blood drawn before our physicals. I asked if they could either A) give me a kit, or B) draw three vials of blood and ship it to Boston for me. They said something about only being able to ship it to a place they already have an agreement with. Of course they didn't have any agreement with the Boston University Amyloidosis Center, so strike three. No point in having them draw the blood if they can't ship it for me, unless, of course, they'd give the vials to me and let me ship it myself . . .
  • I went to the closest FedEx office and asked if there were any special precautions required to ship human blood, or if it was even allowed to be shipped by Joe Average Consumer. Nope, only medical facilities can ship blood. No surprise there, really.
  • I looked online for kits for shipping vials of blood. I think I found something somewhere, but the price for a single kit seemed a little steep.

Yes, I was thinking it was quite ridiculous that the patient would need to be involved to this extent. I had thought dealing with my doctor's office would go something like this: "I may have a rare hereditary disease. I'd like to get tested for it. Here's the address of a place that will do the testing. Please send them some of my blood. Thanks. How much do I owe you?" But, nooooooo . . .

Anyway, at some point I let my doctor's office know that I wasn't having any luck coming up with a kit. They had apparently been looking for some place to do the testing besides Boston, and they had found a lab called Athena Diagnostics that does genetic testing for all sorts of hereditary conditions. So in November I had some blood drawn and sent to Athena Diagnostics. Maybe I'll get the results by Christmas . . .

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