We’re Number (two hundred and fifty) One! We’re Number (two hundred and fifty) One!

October 14, 2013 at 10:03 PM 1 comment

Last week we received word about a (pretty) firm official diagnosis for Eliana.  What took so long, you might ask?

Good question.

Kidneys are funny things; sometimes they just shut down for no apparent reason.  In fact, there’s a specific diagnosis – nephrotic syndrome – that pretty much means “your kidneys seem to be malfunctioning and we’re not sure why.”  About 2 months ago, as it became clear that things weren’t getting better, the doctors sent away a bunch of genetic tests just to cover all their bases.  Nobody had any thought that they’d return any positive results since most the tests were just shots in the dark to look for things so rare that they almost never show up.

Except that in this case, they hit a target.

Turns out that Eliana is missing a tiny bit of a gene that controls specific elements of kidney growth and function.  When that gene is missing it leads to…well…crazy-early kidney failure and the need for an eventual transplant.  So the “good” news is that her diagnosis changes virtually nothing about her treatment since she’s already hit kidney failure and was being treated with the assumption that she’s heading towards an eventual transplant.  The only change is that it had previously been unclear whether she’d actually need to have her existing kidneys removed prior to transplant (sometimes they come out, sometimes they don’t). Since this gene may cause other funky things to take place within the kidney, we now know they’ll have to be removed.

And just for fun, this diagnosis doesn’t even account for the heart valve issue – that appears to be an unrelated hiccup that was just along for the ride.

The coolest part about all this – say the parents who are trying to make some lemonade here – is that this particular diagnosis has only been made about 200-250 times.

Ever.

In the world.

Early on we had joked with the doctors that all of her weird medical stuff should at least be mined for a nice journal article so we could contribute a little something back to the medical community.  As Number 251 or so, it’s highly likely that we’ll have some permission forms to sign and that she’ll be published somewhere.  Oh goody. At least it’s a nice change from medical consent forms.

But the most important part of all is that since her treatment regimen isn’t really affected by the diagnosis, things are still moving along swimmingly.  We’re scheduled to do our own medical training next week to learn the ins and outs of dialysis, dressing care, NG tubes and the like, and things still appear to be trending towards a Disney trip around the end of the month (please knock on something wooden RIGHT NOW!).  We’ll see how it goes, but we’re cautiously optimistic at this point and hope to have even more positive news to share in the next couple of weeks.

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A Disney Speedbump The Rest is Just Noise

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