TomThanks Sandra,
Yes, I think you’re right. It’s just called hypoaldosteronism (HA) or pseudohypoaldosteronism (PHA). I asked Dr. Hwu what the difference was and I got an answer I didn’t understand. The PHA has something to do with an aldosterone receptor, whatever the heck that is.
So just how rare is this thing? If your friend Nicolette could not find a single person having a child with this condition, then is this a million-to-one type of deal? I can find little information on this illness via the Internet. When we were there at the clinic this morning there was quite a buzz about our baby not fitting the CHA profile. Apparently one of these rare birds causes quite a stir among the doctors.
Can Dr. New’s clinic in Cornell do any genetic work on this illness? What was your friend Nicolette there for, genetics?
Even though we don’t have a diagnosis yet, please feel free to forward our e-mail (tom.marking@worldnet.att.net) to your friend. I’d like to compare notes with her. Our son’s condition may turn out to be something entirely different. It may take months to get a real diagnosis. Or they may never find out what the heck is wrong with him. The more time that passes without a real diagnosis the more likely that last possibility becomes.