LOOOOng Day!

I’m so tired. Today was sooooo long. We left the house at 8am and didn’t get home until 8pm. We saw two of Addysons drs: rheumatology and gi. We also had labs run—hopefully the results will be back tomorrow.

Rheumatology is great—he’s keeping everything the same for her fever disorder! And he will see her back in 6 months.

Gi – such a long appointment and honestly the only words I currently have for how I feel is hopeless and defeated. Overall he didn’t offer us much we didn’t already know except that he believes with the cardiologist and Neurogenetics dr that we are affected by a genetic disorder, autonomic dysfunction and or a mitochondrial disorder. We already know she has a genetic disorder and autonomic dysfunction and we have been told she clinically has mito but we are awaiting the rerun of her gene sequencing to verify. He also mentioned she has long qt syndrome so I need to call her cardiologist tomorrow to discuss

I always go into these appointments hoping we are going to leave with a real plan or better approach. He told me no matter what she’s an odd case it’s not curable and we are left only treating symptoms. There’s no path to show us where we are headed because it’s not a textbook case. There’s no proven plan that will work. It’s trial and error. I told him I feel like we are no better than we were two years ago or even a year ago. I’m just frustrated.

She did get to spend sometime with a friend who also had an appointment there tonight so that was nice.

And she was enrolled in a trial for helping kids with motility disorders cope.

She used her cellie (coping buddy) and went in the back for her labs all by herself. She’s so brave with the lab work!!

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