We arrived on Saturday after a pretty uneventful (in the best way) flight and checked into our housing for the week, which is called the Children’s Inn. The Children’s Inn is a place that’s offered to families with children participating in NIH research studies. They do their best to make it welcoming and cheery, and is just steps away from the front of the NIH facility.
(By the way, packing for a week-long trip with medical supplies is quite a feat! Ordering any supplies that we would run out of this week, planning for flight delays, trying to find a way to label and organize it all. My past life as a project manager – and label maker – really came in handy.)
We spent Sunday going over the research available on PIGA and our list of questions we wanted to discuss with the team.
First thing Monday, we registered at the NIH and started the busy schedule they’d put together for us. We met with the team, led by Lynne Wolfe, who is the nurse practitioner in charge of the CDG clinical study. She’s one of the names that continually comes up when you ask about CDG research, so it was so great to put a face to a name.
We also did his first set of bloodwork (which Emmett, as usual, did not appreciate), did something called a QSweat test where they measure his ability to sweat, met with someone on the endocrinology team, did the fastest EEG I’ve ever seen, then had Emmett complete another test where they measure nerve conductors. Emmett was a tired, sweaty hot mess by the time we got to the EEG, so sending virtual apologies to the techs who had to listen to him scream for half an hour.
Other than the blood test and EEG, Emmett was in pretty good spirits for the day. Probably cause he didn’t sleep all night so was a bit delirious. We did enjoy his smiles all day though. 😊
The schedule they put together for us is aimed at providing them the information they need for their CDG database, but also at giving us more information about his disorder. We’re glad to be getting the data and opinions that could inform his options, but also glad to be contributing to the global understanding of CDGs and specifically, PIGA mutations.
The NIH facility is gigantic and gorgeous, so I’ll try and take more pictures tomorrow. More to come! 🙂