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”