Thursday, May 10, 2012


Hello, hello.  There is never a dull moment here…my apologies for dropping the “diagnosis bomb” with no prompt follow up; it is clear some of you would like a more detailed version. 

In the meantime I have turned another year older, wrapped up our Northern Colorado Epilepsy 5k event, found a new PCP for Ava, sent shit tons of information to an Australian researcher (Helen Leonard at the Telethon Institute for Child Health Research) and got our ducks in a row for a visit to the Rocky Mountain Rett’s Clinic in early June (this also required shit tons of info and a bit of preclinical screening).  I even kept most of my cool while Joe was laid off for a couple of weeks for lack of work.

I have also been reading many articles in regards to CDKL5, virtually meeting many lovely folks all over the world living with the same genetic fluke, in addition to trying to connect with the two families in the Denver-metro area that I am aware of sharing this genetic craziness with.  I’m always amazed with our small world; one CDKL5 mom was already connected to my supermom group and had attended an epilepsy focus group at the Anchor Center for Blind Children I helped facilitate around a year ago.  The other CDKL5 mom and I had exchanged an email in regards to ESES/CSWS; she also knows a supermom in my core support group.

With all that in mind, I wish to be in clinic before I speak much to CDKL5 and Ava.  Atypical Rett’s Syndrome is what they have diagnosed her with and the most recent article I’ve seen clearly states this may be a name of the past.  There is so much for everyone to learn that I am not getting too comfortable calling anyplace home, just yet.  Labels can be troublesome if they are wrong; I do welcome the invite to the CHC Rett Clinic and can’t wait to see what these specialists (we will see them all in one afternoon) have to offer:

Clinical nurse (she will be available all year to help anyone with any problems relating to CDKL5)
Developmental Pediatrics
Orthopedic Surgery
Neurodevelopment & Behavioral Pediatrics
Clinical Genetics
Physical Therapy
Occupational Therapy
Augmentative Communication Specialist
Certified Genetics Counselor
Social Work

Dr Benke runs the Rett clinic and he has been the neurologist working with us through the neuro-metabolic clinic to date.  Rett Syndrome is linked to a gene called MeCP2, Ava’s dx is currently called Atypical Rett’s Syndrome and is associated with the CDKL5 gene.  There are over lying characteristics in the physiopathology these two genes share, also big deviations.  I will consider any research thrown our way, it sounds like a couple of trials may be starting in the US soon.

I took a night off to see Roger Waters perform The Wall to celebrate my 35-years.  I was surprisingly sober for a show of this caliber and I must say it was still fucking magnificent, here is a review!  No mind-altering needed, huge shout out to the Denver Students sporting their “FEAR BUILDS WALLS” t-shirts while performing Another Brick in the Wall…You made us proud!

iBelieve, iDissent, iResist

I hope to post sooner than usual. *Muah*

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