We met with the geneticist for 1.5 hours. He observed Elise, asked us lots of questions, went over our family history, then did a full assessment on her. Every so often he would step out of the room for a few minutes.
My palms started to get sweaty and I could almost feel my blood pressure rise. I knew that at the end of this visit either we would come away with a new diagnosis or feel content with the one she already had.
I knew the answer before he even said it. I've known for awhile but I've kept hoping I was reading into it.
The geneticist clinically diagnosed Elise with Rett Syndrome.
She will be getting blood work done in the next couple weeks to confirm it, but on his progress notes, that was his primary diagnosis.
I remember the first time I realized Elise more likely than not had Rett Syndrome. I grabbed her ipad and looked up the symptoms because it had been awhile since I had looked them over. I read them over and over then got this sick feeling and I knew. I sat on the bathroom floor and cried.
I kept trying to forget about it until our appointment but this last month when I saw our pediatrician, she pretty much confirmed it to me as well. I remember her saying, "I'm not so sure it's autism, I think Elise has a syndrome."
At another appointment she kept talking about it like she knew she had it. I realized the pediatrician had to be quite certain that's what it was in order to be talking like that to a mom. We as mothers get worked up easily, especially when it comes to our children and there's no way she would bring it up let alone say that's what it was unless she knew of a surety.
At the end of our visit, the geneticist came back in, turned to me, and asked me what my gut feeling was. I told him I thought she had Retts. He said, "Well I agree with you."
I had a hard time concentrating on what he said after that. A dozen images flashed through my mind. Little girls in wheelchairs, not speaking, not using their hands, and using an eye gaze device to communicate. I can't express how scared I was. Scared of her possible future, scared of our family's possible future, scared of the what ifs, scared of all the possible "endings," and scared of not ever hearing my little girl talk to me. It hurts.
I find when I am talking with doctors and therapists I step into nurse mode. The nurse in me comes out and I treat Elise like she's a patient. I hold myself together and can think logically but when I leave, mommy mode takes over and I'm not so strong anymore. I kept telling myself I was getting carried away and hopefully she wouldn't regress that much and to hold on to hope but in the moment, it's hard to think logically.
As I was walking to our van in the parking garage I heard the scripture distinctly in my head saying, "I will be on your right hand and on your left and mine angels round about to bear you up."
That night we told the kids that she didn't have autism. Brock started cheering and was so excited. He kept saying, "Yay she will be able to talk now and play with me!" Mine and Ezra's heart broke. We told them she most likely will never talk. That is the worst part of it. Sometimes I just hurt so much from wanting to hear my little girl tell me she loves me or what her favorite color is.
I will never give up hope or stop believing in miracles but every doctor we have talked to has said her form of communication will come through a device. I am even more grateful for her ipad now.
The rest of that day and the couple following it were hard. I felt like I had to almost go through the grieving process again.
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!