Plan forward

We spoke to addysons motility gi Dr tonight. We have a plan going forward for testing next month when she flares. He also said every xray during a flare has shown a functional ileus. He wants to help us get better control on those. We don’t want to be an ileus mode every month. SoContinue reading “Plan forward”

Another day at chop

Today we saw opthamology, nutrition and gi. Opthamology said her eye sight is good… As far as the tracking issue since her scooter incident, we should see the eye tracking Dr so that’s another appointment. Nutritionist is pleased with what we’re doing and wants her to stay on her feeds, no talk of decreasing anytimeContinue reading “Another day at chop”

Last day of wish trip

Today is our last day of addysons wish trip, we head home tomorrow. It has been an amazing trip with lots of memories.. Below are a few highlights. Addyson goes through so much medically so to have a week to make these memories and focus on all the fun things has been amazing.

Pediatrician check up

Why does every one of addysons doctors say “she’s one that sticks with me and makes me think”? They all also say man, she’s still full of spunk even years later. Let her keep that sass it makes her the fighter that she is. Today we saw her pediatrican and we talked through everything. WeContinue reading “Pediatrician check up”

Sfn and qsart testing

Today’s appointment was an appointment addysons neurologist wanted us to get back in January but today was the first available appointment.  The neuromuscular Dr noted some abnormal sensory findings in regards to her feelings in her legs. She agrees we should proceed with the testing for both small fiber neuropathy as well as large fiberContinue reading “Sfn and qsart testing”

1st appt this set

First appointment of this set went as expected. Rheumatology changed dosage on addysons fever meds since in 6 months she’s had 6 fever episodes. He is hopeful this bump up will stop the flares. If it doesn’t work then we are to call and discuss another option. Tomorrow is the big day- aadp clinic. HoursContinue reading “1st appt this set”

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”

Neurology appointment follow up

Addyson saw her neurologist today. We love him. He understands her type of epilepsy well. Overall it was a good appointment. He is going to switch her keppra to an extended release dose to try and get better coverage so we won’t get breakthrough seizures. He would rather do that than up her dose. IContinue reading “Neurology appointment follow up”

Recap on last few weeks

The kids got their report cards. I’m very proud of both of them. Ethen has faced a lot of issues so far this school year but his grades are good. He’s even in advanced courses. Addyson has always been grade levels behind due to all her missed school time due to surgeries and medical appointments.Continue reading “Recap on last few weeks”