Tuesday, September 3, 2013

4 Days? Really?

Has it really only been 4 days since we got the diagnosis of PHA2? It feels like a month! I feel like I have been doing more research NOW than I ever did in high school or college! You know you have a rare disease when RareDiseases.org (or the National Organization of Rare Diseases) doesn't even have a page for your disease!

I have found a Facebook group for PHA. (There is apparently a Facebook group for just about ANYTHING now!) Most of the parents have kids with PHA1. Depending upon if it is autosomal dominant (AD) or autosomal recessive (AR), the kid will either outgrow it (AD) or have to deal with the salt wasting episodes as an adult (AR). I've only found one other mom with a kid who has PHA2. I may have to go digging in the archives to check, but she may be the only one. PHA2 is more rare than than PHA1. PHA1 they say affects about 1 in 80,000 infants. PHA2 they don't have numbers on.

We saw the cardiologist today for the first time since the diagnosis. Apparently Princess is even more of an anomaly to have the Left Ventricular Hypertrophy (LVH) and the PHA2. Our plan of attack is to keep her on both medications right now, but we'll let her outgrow the current dose of the one beta-blocker she's on. The thiazide she'll be on for life and we'll be slowly increasing her dose as she grows. Eventually she'll just be on the thiazide. We're going to repeat the potassium on Friday. Oh joy! I HATE having to have blood drawn on this kid. Especially when it deals with potassium. We've had SO MANY issues with the sample hemolyzing and having to redraw it's driving me crazy! The only good thing that came out of today's visit was a normal blood pressure!!!!! Praise God! It does confirm that we are on the right track and she does have PHA2.

For me, it's beginning to make me wonder about things. Obviously knowing what I know now, her first round of acidosis at 3 weeks was the PHA2. That was the first indication of it. Her hypertension in the NICU was the next indication. There's no one to blame. It's a rare disease. We're probably the only case a lot of these docs are going to see EVER, until they develop a test for it and find out how prevalent it is.

My brain is just swimming right now. I don't know what to think. I don't know what to do. There's not many people I can talk to about her disorder and get answers.

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