Thursday, September 6, 2012


A copy of CB's most recent neurology report came in the mail today, on CB's first day back at school.  I added it to one of the thick manila folders that chronical our adventures together over the past 17 years.  As I scanned over the report, an alphabet soup of words, the old familiar tune sang:

 chronic static encephalopathy..., psychomotor retardation, severe ....status epileptus... generalized tonic clonic seizures... 

Blah blah blah.  The most painful parts of our lives whittled down to three pages of black ink on a crisp white page.  And while it tells the story, it tells hardly anything at all.

The report wrapped up with the summary of genetic testing, which I read with more care:

Angelman's testing - negative
No detectable mutation in the coding regon of the UBE3A gene.
No detectable point of mutation in the coding region of the SLC9A6 gene
Rett Syndrome - negative
DNA sequence anyalsis and deletion/duplication testing of the ARX, MECP2 and the CDKL5 genes did not demonstrate any anomalies.

It was this line that stood out to me though, like the trace images you see after you stare at something for too long and then close your eyes and still see it there in the darkness:

Therefore, the etiology of the disease phenotype in this patient remains unknown.


Which leaves only the guilt of what I might have done wrong sitting in the chair of an explanation.


Elizabeth said...

Oh, dear no. You cannot, you must not have so much faith in the current medical/scientific world to think that the answer is you. There is some random mutation, undiscovered, a crappy, shitty bad luck of the draw. That's all. That's all.

I hate all of this -- the unknown, the seizures, the endlessness of it all. Like a giant black cloud. But you know it will lift. I hope it lifts soon.

Sending love and support and empathy and camaraderie. I'll hold your hand right here in the darkness.

kario said...

Oh, Alicia. I can't imagine how it must feel to see your daughter reduced to this but I can ask you to consider one thing:

Please look back at the last two decades and see what you've done right. The patient care. The undying love. The effort to find workable solutions for everyone in your household. The integration and inclusion of CB in the lives of everyone who is important to you. I could go on into the myriad of detailed machinations you perform that enable all of your girls to grow up knowing they are loved and cared for, but I suspect you get the idea.


Alicia (Dr. Mom) said...

elizabeth - thank you for your sweet words of support. i know things just happen, but sometimes bc of the fact that i didn't know i was pregnant for over 5 months i think about all the things i did 'wrong' in my naiveté. i know its unproductive to stew in guilt, but even when i think i have in conquered, it bubbles up. i guess thats part of motherhood :)

kari - you are such a sweetie - THANK YOU. reading your words made me well up with tears and meant the world :)

Anelisa Del Gaone said...

The old saying 'everything happens for a reason' is something I live by whole heartily. We are continually 'tested' in our lives for a purpose. Without CB, you may not have the opportunity to touch people's lives in the way you strive to advocate for those that need support. This time with CB may just be just the beginning of a whole new age yet to come. All the roles that you play in her life, and we know there are many, has made you the wonderful and caring person that you are. Who knows what the 'unknown' has in store as your beliefs are strong...there is always more.

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