Local Research Hospital

Today we visited Local Research Hospital, which has a big name nephrologist who's treated lots of folk with B's. (I'm calling this Local Research Hospital because it's about a half hour away; next week we visit University Research Hospital, which is downtown.) This is the hospital that's doing the genetic research for us, so hopefully it may personalize the data for them.

It was a pretty funny meeting. Nanny Linda drove us there, which was very nice. We found the main office for the doctors, and it looked about how I hoped it would look. There was a hall of offices in one direction and a big pit of cubicles in the other. Several tables were piled high with copies of nephrology journals and kidney encyclopedias. We first met the pediatrician, who's doing a PhD under the main doctor, and then the main doctor showed up just a little later. He was finishing one meeting and on the way to the next. He kind of cracked me up, as almost a doctor stereotype. He introduced himself, reviewed a chart he'd made, answered his phone, gave his apologies, and left. Anyway, it was a funny encounter. The pediatrician talked t0 us more, showed us a chart they'd made based on Eva's blood tests that I sent, and got us registered and took blood. The urine test was a failure--they put the bag on after she'd gotten her blood taken, so I don't think she had any pee left to give at that point, and the bag wasn't sticking right. So we have to do that part tomorrow, but we can have it sent to the hospital.

I'm still not sure what to make of it all. This hospital appears to be the place to go for B's. I think they have more than 100 people they've worked with who have one of the two major kidney disorders (B's is maybe 30-40 people). This is also encouraging because it means, as I've suspected, that B's isn't really one in a million. It's probably one in a couple of hundred thousand, but just hasn't been diagnosed widely. This is probably a good place to find patients also, because where we are is: (1) a pretty big island with (2) a national health care system. So all of the patients are identifiable and will get funneled to a few hospitals in the city. In the States, you have dozens of hospitals per state, lots of confidentiality issues (it's difficult to share resources), and it's harder to fund rare disease research. Of course, there are drawbacks here, but I'm hoping if we can work with both systems we can get the help we need.

We're still not sure what to do with the medicine she's taking. As we read more, I can see why it is widely prescribed, and on the website it sounds like most people with B's take it. At the same time, I'd like to find out more about dosages, whether we can cycle off of it, mix it with food, etc. We're going to cut the dosage in half until we get the blood results.

Anyway, this is what we know now. Next week we'll see an endocrinologist. I'm hoping we get results soon, but it could still be a while.