Tag Archives: beads of courage

Addyson chronicles (March 10th)

Welcome to our craziness. Let’s just start by saying that. I feel like we live in a state of craziness lately. So back in OCTOBER I booked today’s follow up with addysons sleep neurologist. There was nothing on the calendar year, so today looked like the perfect day. Plus it was a 930am appt… GoodContinue reading “Addyson chronicles (March 10th)”

Sleep deprived EEG

We did it…. We made the sleep deprived EEG work. Thanks to our family and friends. Sleep deprived EEGs are tough because she has to stay up all night and then stay awake till she gets all connected. With everyone’s help we did it! She was soo tired. Sandra who came over in the middleContinue reading “Sleep deprived EEG”

So we have had a few people ask for updates from yesterday. It’s tough. It’s emotionally draining. I needed a day to think through it all, discuss it and then find a way to explain it. We left with another new diagnosis and no new treatment options. For the second time in 8 weeks weContinue reading

Whole Genome Sequencing

Addysons Whole Genome Sequencing came back after some mix ups. Her blood work from today also came back abnormal In her genome: They refound her MEFV Gene and her CHRNB2 Gene. They also found another gene: UGT1A1 *1/*28. The ugt1a1 gene means that she is a Intermediate Metabolizer. We were told that this means thatContinue reading “Whole Genome Sequencing”

Telemed appointment

So today we had a telemed appointment with Addysons gi motility dr. He had us concerned because he called two days ago and said we needed to meet to discuss her lab work. We had not yet see her lab results so we were unsure of what we needed to discuss. Anyway ….turns out he’sContinue reading “Telemed appointment”

Busy week ahead

We have a busy week coming up. Both kids have their kki appointments Ethen has his behaviorist Addyson has her home hospital teaching Randy has a dentist appointment And we are heading back to chop for two full days of appointments. We have clinic appointments with the mito team and the AADP team. We areContinue reading “Busy week ahead”

Weekend catch up

This weekend Ethen played and played with a friend. They played virtually but they interacted the whole weekend through the phone while playing the game. They took turns talking, they communicated throughout the game to work together and trade items and help find other items. They really had fun. It was so great to hearContinue reading “Weekend catch up”