NIH Day #1, complete!

Hannah did pretty good her first day of testing!

The morning started with meeting with Dr. Goker-Alpan, Catherine (the nurse coordinator), and Dr. Sidransky. They all separately commented on how they couldn’t believe how much Hannah has grown! They all commented how she totally looks like a toddler now and lost the baby look. But the best part of all was just hearing their pleasure at how good Hannah looks in terms of appearance, size, etc. No failure-to-thrive baby here!

We had a really rough night last night, as Hannah woke up almost every hour on the hour. So by the time she had her appointment for her EEG, she was exhausted. She slept through her EEG, the BAER (two trials), and even the Hammer test (two trials). The technician, Mike, could not believe that she slept through EVERYTHING, and that he was able to get two run throughs of the BAER and Hammer test! At least we know that whatever results we get, they had good data to go through.

We came back to the hotel afterwards, and everyone played for a while.

Then, we had to go back at 7:00 pm for a neuro appointment. Hannah was just NOT in the mood, and she had such a tantrum when the neurologist was examining her that her face was bright red, sweating, and she was ready to start hyperventilating. Nothing would distract her, not even her Mickey Mouse Clubhouse DVD. That appointment lasted a whole 10 minutes.

We were able to calm her down enough for our 8:00 pm appointment with Dr. Goker-Alpan. Hannah was back to normal, and spent the time just watching her Mickey Mouse DVD. It was a great conversation, and it gave us a good basis to start the week in terms of what to expect from the tests, the visit, etc.

Tomorrow we start with her abdominal ultrasound, skeletal xrays, and then we have something else in the afternoon.

The interesting “add” to the list is that they are going to do some testing on Daddy, as they are very interested in study more about the D409H gene mutation that he has. So, they are going to do an echocardiogram on him as well, as D409H historically is associated with cardiac calcification issues and hydrocephalus (studied as D409H/D409H homozygous GD).