Tuesday, March 27, 2012

cyclin‐dependent kinase‐like 5

Ava’s metabolic M.D. phoned me this afternoon; she left a message on my home phone and my cellular.  The message kindly explained I could not call back because she was in meetings off campus, that’s always a humdinger but she did call back around an hour later.  Her tone was not as chipper as our last conversation, my assumptions were adding up.

CDKL5 is our new chum.
Thant’s right.  We have a primary diagnosis to tie together all these secondary challenges.  CDKL5 is currently consdered a variant of Rett’s Syndrome.  We will be in clinic sometime soon to explore what type, for you science geeks we’d like to understand if it is de novo (for Aliza and maybe Joe if he gets sick of me and finds a new wife).  Also they are curious to reexamine Ava with this diagnosis in the forefront of their minds.  It is so new; much clinical information is needed to help further information towards a better quality of life for all those affected. 

I secretly hope my suspicion of pain is addressed and treated successfully.  Also to identify what M.D.'s are researching this in the U.S.
So…just like that, around 4:00 today, the answer woman finally called with a long overdue reply.  I am in the early head feeding stage of all this lovely information; hopefully I can regurgitate meaningful questions to work with by clinic time.  Here are a few snippets from the FAQ’s on the only web-site I’ve found (there is a nice list of blogs also).

The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein
Mutations in the CDKL5 gene have been identified in girls diagnosed with a variant form of Rett syndrome (RTT). This form of the disorder, often severe, includes many of the features of classic Rett syndrome (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements), but also causes recurrent seizures beginning in infancy. At this time, CDKL5 appears to be distinct from, but closely related to, Rett Syndrome. There is still a great deal of research that needs to be done to understand the connection between CDKL5 and MeCP2.
I am not surprised or upset; we have been chasing methylation issues and questions since she was an infant. I’ll catch you crazies soon.

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