Thought we would cross a few things off the to do list this week..

But not so much. Yesterday Dylann had a 2 hour genetic appointment at Children's.  This has been recommended to us by most of her providers since many genetic conditions can cause arthrogryposis so they wanted to make sure to assess that. 

The genetic doctor asked me a question that no one had asked before so I hadn't thought about it. She told me there are 100s of tests that can be done so " how important is it to me to know what caused her joint issues?"  Hmm.. I told her what's important to me more is to know it isn't the severe and progressive things and that we are doing the right treatments.  She told me that after meeting with us and looking her over they her arthrogryposis isn't typical so she has a harder time just saying it's that. She also has a hard time saying it was amniotic band syndrome since she can't see the banding with her casts on and that her wrists have some joint issues and wouldn't explain how symmetrical that looks. That being said,other than her joint issues she is normal in her development and function which you wouldn't see with most genetic conditions. She did test for one form of muscular dystrophy that it could be albeit a 1% chance or less. MD was the diagnosis I feared the most throughout this whole wait time. Not sure when we hear back.   Next steps are to see her again in a few months and we could test for other gene mutations that cause arthrogryposis.

This morning we had a hearing test for Dylann. She failed her left ear test in the hospital. She failed again today. We have to see her pediatrician to check if fluid is stil in there then go back for a brain stimulus hearing test in 3 weeks too asses if she can hear out of that left ear. 

She remains a trooper through all of this !