I got the call from Elle's geneticist yesterday, they finally found something in the latest test. Our sweet little girl has a "rather unique mutation" of the Rett gene. So now we know. The search is over. Can't say we are surprised, but I am rather shocked at finally having an answer. We know very little right now, Dr. Carey is arranging a meeting for us with him because he wants to go over these findings in person with us. We will know more in a couple weeks. Crazy!
Thanks for all the support and love we have felt from family, friends and strangers. You all make this journey easier and thank you Elinor, for being the sweetest, brightest little star in our lives. We couldn't love and adore you more. We are so grateful for the honor of having you as our daughter, you truly are a special little girl and enrich our lives in ways we never dreamed.
Well, off to post this in Lollipops and Crisps, this news was too big to only share there.
8 comments:
I am so glad you finally have an answer. That's so cool that she is just naturally the sweetest little thing. She is such a doll. So fun to see you guys this last weekend. I loved the banana pudding. :) We got a great picture of it. We'll have to send it to you.
So awesome! Happy day!
How great that they finally found the answer. Now on to where to go from here. Let us know what Dr. Carry says!
i love that, "a rather unique mutation". in other words, that's why it took us so long to figure it out! i'm so glad you finally have a name for it, so you can know a little more solidly what you are dealing with. it will be good to know more about it! thank you so much for keeping us all in the loop.
I'm happy that you have a diagnosis, finally. I'm sure it will help knowing what it is, even if it is unique. Looking forward to more news after your meeting with the doctor.
Well Em, I am glad you do finally have a diagnosis. I know you and Rob were pretty much prepared to have it go undiagnosed forever. But, I also know you were hoping it wasn't Rett. Hopefully you will learn more about it when meeting with your doctor and since it is a rather unique mutation that means she will continue to progress. I must say I have thoroughly enjoyed spending so much time with her the last couple of weeks. She is so sweet and cute and I just love her so much and am so glad she is my niece.
My WV is Thecures.
I just realized the picture you used for this post is of me and Elle's on our little Halloween adventure to the pumpkin patch! That was a fun day and I definitely want to make it an annual tradition. Such a cute little face.
And when I say it's a picture of me, I mean a picture of a little bit of my sleeve.
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