Who am I?

I am Amanda, a stay at home mother to two wonderful children, Fiona & Ferris. Fiona has Autism, possibly caused by a small genetic deletion at 22q13.1 (but not the region attributed to Phelan-McDermid Syndrome - although she presents similarly), but we cannot say for certain, as her particular deletion is undocumented. In other words, according to medical literature currently available, she is the only known person with a deletion in this exact region, and so it is of "unknown clinical significance" and we have no idea what her future holds. Currently she is almost completely non-verbal, her only real word with any real meaning being "boob" as she is breastfed. *gasp* Yes, you read correctly, my almost 3 year old daughter still nurses, and I'm proud of that fact. Ferris is a neurotypical little chubba bubba baby man. He gives me sanity, and hope, and comfort for the future. He is nearly 8 months old at the time of this writing, and he is my charming, adorable, little-big guy. He is also breastfed, and doesn't seem to mind sharing with Sissy, who is the neatest thing since pureed peaches in his eyes. Want to know more? Just ask!

Monday, March 21, 2011

Blast From the Past... "She Can Talk in My Dreams"

This is something I posted to facebook shortly after finding out about the genetic deletion, before I knew exactly what it was, what it meant. I think this is a good point to share it here, because it portrays my frame of mind at that time, and I think that is relevant.
She Can Talk in My Dreams
October 21, 2010 at 4:30pm

I'm usually a pretty private person when it comes to my innermost thoughts & feelings, but I'm trying to change that a bit, because if I keep it up I may very well lose my mind. I feel like I'm trying to be too strong, for everyone, all the time, and it's really getting to me. Sometimes, I need to just be vulnerable, be weak, and be human too. It's really tough for me, too, dealing with everything we are going through with Fiona. It's freaking hard.

We've been having her evaluated for Autism, and part of that process was genetic testing to rule out syndromes, and we expected a clear result, but instead we found out she is missing some information on a chromosome. We don't know if it's inherited, or spontaneous, or what it means for the future. It is an undocumented deletion.

I've been spending the last few days since finding this out researching deletions and what that means for these children with these problems, and a recurring theme I've seen is "non-verbal". A rare few are able to talk, but for the most part they just don't. I'm saddened that I may never hear my sweet precious girl really 'talk' other than a select few words. I may not be able to have a conversation with her. I may not hear her voice, her thoughts... It's like she is trapped in her own mind somehow. We know she's smart. We know she has a completely normal brain via an MRI. We know she thinks and feels and behaves for the most part normally, except for her stimming behaviors of course. She loves big. She figures things out. You can see the wheels turning in her head. She just can't express those thoughts and feelings and wants clearly. I don't know if she ever will. I just don't know anything, and that is so scary.

I guess I should be happy, and grateful, that she has her health. Most kids with chromosome issues have so many disabilities and birth defects, heart defects, dysmorphic features, shortened lifespans... and she as far as we know has none of that. She is in great health, with normal organs, a normal brain, normal features, and hopefully will live a long full life. Her only outward manifestation of this (which I didn't realize was even connected until reading stories of other children with similar issues) is that her legs turn slightly inward (pigeon-toed) and she walks with an odd gait because of it, but she gets around very well, albeit a bit clumsy. I should be happy that she only has this and the autistic-like traits. But still, I am sad for the things she may not do. I hope she does them anyway, and I will do everything to help her get there, but I'm just so scared that she won't and this crushes me. I can't help it. It really hurts.

But then, she always talks in my dreams, and has such beautiful things to say.

Sorry for all the rambling thought here, I'm just in a weird place right now, coming out of the shock and into the reality and its hitting me a bit hard. I know in time, it will get better, and instead of focusing on the cannot and will not, I will focus on what she can do and does accomplish. I know it will get easier. I know I will always love her and accept her. I know she will always be my perfect special little princess. She will always be beautiful, smart, loving, and perfect in absolutely every way. That will never change. Who she is, will not change. But right now, I find myself grieving for the little girl in my dreams, the little girl that may never be. It's hard. I feel guilty in a way for even feeling sad. But again, I am only human, and that's okay.

She will always talk in my dreams.

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