Wednesday, June 18, 2008

Genetics Results

I finally received an email back from the Genetics Dept on the results of the metabolic screening that was being performed in The Netherlands. All tests were normal. This is both wonderful news and discouraging at the same time. It's wonderful because she doesn't have this rare metabolic disorder (for which there was no real cure), but at the same time we're kind of back to square one. We have no leads and no ideas as to why she has the problems she has. I discussed all of this with the the geneticist this afternoon and he thinks we should come back in for an office visit so that he can check Reagan out and we can decide what (if any) tests to run next. Meanwhile, he's going to go back over Reagan's entire medical history to see if anything jumps out at him. Now...I have some more great news on the sleep front. Reagan went to bed last night around 11:15pm and slept until 4:15am (that's 5 hrs...woo woo!). I got up and fed her almost a full bottle and she was back out by 4:30am and slept until 8:30am (4 more hrs...double woo woo!)!! Unbelievable!! It was like the first week of the ketogenic diet!!! Speaking I contacted the nurse practitioner that oversees the diet and she agrees that we want to give the diet a fair chance at working before we abandon it. She thinks we need to give the nighttime feeding a few more days to take effect and then Friday we can go back in to get Reagan's blood checked again to see what her levels of beta-hydroxybutyrate look like now. She may need her ratio lowered even further. Some kids just do better when they are in a lower state of ketosis...maybe that's the case with Reagan. We're still hoping and praying that this diet is going to provide her relief from these seizures! I ask that you would keep her in your prayers as well.


DeMar said...

Hi Reagan! Tera - I just want to pick her up and give her a big squeeze. Her looks remind me so much of Brooke! She looked great in therapy!! The gait trainer is really cool. Brooke's is a stander for weight bearing, but not an actual walker. Very cool. Brooke's is a Leckey squiggles stander I think. We just got a squiggles chair too! Keep in touch you two! Kadie & Brooke DeMar (Cali)

Heather said...

So hoping for another great nights sleep for you all. What a difference a few consecutive hours of sleep can make for everyone. Praying that our little "care package" we sent won't be needed and the diet begins to take over!

Sophie's Story by Elaine said...

Ahhh...must have been so wonderful to have Reagan sleeping so well. Hopefully, she will have many more great nights to come.

Regarding Sophie's ACTH treatment...she never became SF on ACTH, close but not quite there. It also did not clear up the hyps. Her EEG just gradually became better over time. She is going on a high dose protocol and she was on the high dose protocol the first time but not quite the same schedule.