Friday, October 21, 2011

This is the week that never ends.... part 2

We got settled into our room and they did the usual labs, urine culture, etc. and everything came back pretty normal, so no explanation for the pain/screaming. The head of pediatrics came down to our room (at 10pm) and introduced himself and then talked to us about Addison for awhile. We liked him instantly, just a great guy and seemed very caring and understanding. But then he uttered these beautiful words...."The way I see it, you're already here. Let's knock out these tests and get on the road to some answers, huh?"

I wanted to kiss him. FINALLY! Someone who understands our urgency, who can appreciate the fact that we've spent 11 months on this journey and we're hardly any closer to a solution than we were when we started.   So he called the geneticist and we compiled this list of procedures and testing to be done:

Swallow Study
BAER hearing study
Genetic Micro Array
(and a million long word types of bloodwork I can't remember)

He tells us the MRI will be done first thing in the morning on Wednesday. What he doesn't tell me is that we are going to be able to cram every single one of those tests into Wednesday by itself! We spent all day, all over this whole hospital but we knocked out everything that needed done besides some more bloodwork.

On Wednesday night, the Neurologist comes in to consult on her regressions and after meeting her and checking her out, he said the obvious things (she's extremely floppy and weak..and the regressions are quite obvious but could be one of about a million things). But thankfully, she was in her funk when he was there so someone finally got to see her acting the way I've described in the past. He agreed that neurologically something was not right. He mentioned a short list of his prime suspects and ordered even more labwork and a 48-hour Video Monitored EEG. He said seizures would be the 'best case scenario' because everything else he was testing her for was either fatal or degenerative or just plain horrible. I never wouldv'e believed I would ever have the thought "Yes, seizures! Something treatable!" but its amazing the way things change once they start talking things that are almost always fatal. Suddenly that horrific diagnosis of seizures is "Okay, I can do seizures! Seizures is good."

She was a trooper through all the tests, including more anesthesia. She was gone from me for over 3 hours of testing and luckily Daddy could be there to keep me sane until she got back. I was so proud of her until she decided that it wasn't necessary to go to bed after the crazy day we all had and I sat up until 4am with her, rocking her. Thursday was coming quickly, and we had high hopes for some answers.


  1. First of all, I'm very glad y'all are on the road to some explanations. You mentioned that Addison was floppy, loss of muscle tone, doing a swallow study. I've been through all of this before too. I was going to mention this to you on the November BBC birthboard. If the neuro mentions SMA - spinal muscular atrophy, please contact me at I'll keep checking back to see how y'all are doing.

  2. Hang in there guys! We'll keep praying that these tests will lead somewhere.