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Thursday, June 12, 2014

More information

I was under the impression that yesterday we would be getting the FULL results of Bailey's Whole Exome Sequencing test. Technically I did get a copy of all of the results BUT there are a few other genes aside from the TTN mutations that had variants of unknown clinical significance. A variant is an alteration to a gene. Since Children's is unclear if those specific variants mean anything to Bailey they are having Bailey's doctor at NIH go through everything very thoroughly since this is his area of expertise. So it will be some time before I know anything about those.

We did learn that Bailey's congenital myopathy, Arthrogryposis, and possibly her extreme fatigue were caused by these TTN mutations. Therefore this is Genetic which is something we have been wondering since she was born. The combination of a mutation in Steven's genes and a variant in my genes caused the mutations for Bailey, according to the test.

I had already stated in the previous post that these specific mutations can cause all types of muscle related diseases and issues including early onset of fatal heart and respiratory failure. To be preventative she will be getting cardiac and pulmonary work ups every 6 months.

Unfortunately, so far we do not know what is causing Bailey to go through Hypoglycemic ketoacidosis (her crash episodes) but they are assuming at this point that it is just her body's way of telling us something is wrong. Instead of just getting a cold or virus she has the potential for her body to just go into shut down mode.

One wonderful thing we were able to find out through this testing is that Bailey had no cancer genes in her body which is wonderful news!

So we do not quite know what the future holds for Bailey just yet. There are some really scary things documented for these specific type of mutations but we will remain positive and hopeful that she beats those odds. We will remain cautious and preventative the best we can though.

What this all means for Addison, we just don't know yet. Our Geneticist believes there is something going on with her but she doesn't necessarily believe it is the same exact thing that has gone on with Bailey since she is very different. She did an official full exam on Addie yesterday and she wants to await the results of her MRI on July 7th before going further with any testing. She does believe that Addie needs more aggressive speech therapy. She isn't sure if she can't process the words or she just has trouble getting them out. We do know she does understand words. She wants her to see someone at Children's as well as through Infants and Toddlers and for us to encourage communication with both verbal cues and sign language.

Bailey had a Dexa scan (bone scan) done today and a spine x-ray. They saw the start of Osteoporosis on an x-ray a few months back and they wanted to see what the rest of her body looked like and if that may be contributing to some of her pain/soreness in her lower back and legs. We should have the results for that within few days.

We are overwhelmed as we always are with test results. Bailey is one of a kind and as I've said before I'm not convinced we'll ever know the full extent of what's going on in Bailey's body but I'm happy we know some more information and this allows everyone to watch her heart and lungs a bit closer to hopefully prevent anything fatal. I certainly don't want to even think about losing her or having to live life without her. I just hope that our friends and family are able to understand now how serious this all has been and will continue to be. We aren't always able to participate in things because sometimes she is just too tired to function and we would rather allow her to rest than to push her and something bad happen. Everyone has been really supportive along this journey that will be never ending and we really appreciate all of the love and prayers given on a daily basis. Bailey and Addison are the light of our lives and we will do whatever needs to be done for them to strive in the best way they possibly can!

Thanks for reading!

"Fall into me, my arms are open wide and you don't have to say a word cause I already see that it's hard and you're scared and you're tired and it hurts and I wanna be the one you reach for first."