Elisabeth's global delays, we've learned recently, were all caused by a mutation in a gene identified as DDX3X. I think the scientists are just now putting the puzzle together with all their findings going back to 2015.
We are also learning that Elisabeth is among a small group of girls who were found with this same mutation. So. We're not alone. And, there may be a tie in to ASD.
Now how's that for news?
The best news of all is finding friends, articles, and blogs that speaks "diagnosis" because when people asked me about Elisabeth's diagnosis, my mind went blank. Where do we being? That delay in development that separated Elisabeth from her typical developing peers. That thing that radically changed her life and the person she was imagined to be.
Where do I start?
I was always nervous rattling off the symptoms, not the diagnosis. Did all these symptoms really define her? The Agenesis of the Corpus Callosum, optic nerve atrophy, spastic quad, CP, and the string of other things written down on medical forms throughout her 24 year old life, over and over. Is this who she is? And how do you explain mutation? The billions of letters of DNA in which one letter doesn't copy because of this thing called "protein" which is essential to all development of life on our planet. Is she a tiny mistake in nature due to tiny error rate?
I've been writing this blog to document Elisabeth's journey. It's a true story about our daughter Elisabeth. A story about Elisabeth exploring every ounce of her humanity. I also wanted to document my own discovery of her humanity instead of seeing her as a mutation or a disabled person with special needs. My role as her advocate and caregiver was and remains to make sure this very messy and complicated life doesn't spiral out of control.
It was this blog that I tried to jot down and link up to any person, article, or information that would help me create her niche, her community, and her purpose in life.
Several years ago, I wrote this article called the "X factor" that helped me discover the connection I had to make as her mother and the connection she had to make with the rest of the world:
"For parents and caregivers with children who are born with disability labels or who develop a label after birth, it seems impossible finding that particular child matching up to their own child in ability and development. The milestones, the charts, and the sequence in development is not there for our children.
All we really have have to go on is our own X factor. The factor we discovered in hindsight creating that emotional bond that defined for us a fleeting but tangible smile to mean a "yes" or a flinch in eyebrows to mean a "no.""
