It’s not likely something you’re losing sleep over, but at times you may see MECP2 sometimes written differently. Wanna know why? When it’s written MECP2 (all caps), it refers to the human gene When it’s written Mecp2 (only the first letter capitalized) it refers to the mouse gene When it’s written as MeCP2, it refers...
by Elizabeth Halford, with contributions from Steve Kaminsky, Ph.D., Janice Ascano, Ph.D., Paige Nues and Kori Coates. Last year, the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) released. It’s been 19 years since the DSM was last updated. The fourth edition (DSM-IV) was published in 1994. Until now, Rett syndrome has...
“After a few days we took her home and tried to carry on life as normal. Everyone asking me how she’s doing, thinking it would all be over soon.” I stumbled upon this post from a few years ago. Steven had posted it on his blog, but I guess it never made it over here...
Grace and I spent yesterday and today at Southampton General Hospital having a couple of tests done to prepare for her g-tube surgery next month. So for 5 days leading up to her appointment, she was off all of her meds. We expected a hellish few days and….nothing. No crying, no pain…nothing. She had a...
Note: In the end, Grace didn’t have Sandifer. I believe these were the start of her seizures. Grace has been behaving really strangely lately and I have assumed that this is due to anxiety. In my research, I’ve read the studies on Rett mice and their increased anxiety and stress response levels and took that...
So I’ve said before that Grace’s particular mutation is r168x. It’s the second most common type of the 12 types of Rett Syndrome (I think there are 12). But it’s the first most debilitating as far as I’ve gathered. It’s the one where Rett parents in the know will say “ooh that’s the bad one”....
On the 17th of Dec, it was the one-year anniversary of Grace’s formal diagnosis for what we already knew. I remember that day so vividly. Dr. O. called personally to ask us to come to the hospital and we’d already spoken about RS before. I just said “she’s got Rett Syndrome, doesn’t she” and he...
