I think most of us Rett parents compartmentalize our life events according to “pre-Rett” and “post-Rett”, I know I do. In my “post-Rett” life October carries significant importance.
First and foremost my daughter Chelsea was born in October of 1996. October 10th to be exact. Today she turns 21 years old. I’m sure many of you are familiar with the bittersweet emotions brought on by birthdays, especially milestone ones. I’m bursting with pride at the beautiful young woman she has become and the patience and dignity with which she handles all the horrific symptoms that Rett throws her way. But side-by-side with the pride is the sadness as I try unsuccessfully to ignore the “what if?” thoughts that are fighting for my attention.
Chelsea was diagnosed in October, 10 days after her second birthday. The year was 1998, pre-MECP2, so the diagnosis was a clinical one based on symptoms and her history. A year later, in October of 1999, we received notification that Chelsea did indeed have an MECP2 mutation.
That same month I, and a handful of other parents, launched the Rett Syndrome Research Foundation. The start of what has now been 18 years of research advocacy.
I don't remember how Rett Syndrome Awareness Month came to fall in October but personally it does seem fitting.
When Chelsea was diagnosed, Rett was barely known in scientific or medical circles. Since then the gene was identified (1999), the first animal model developed (2001), Rett was reversed in the lab (2007), gene therapy reversed symptoms in mice (2013), RSRT created the Gene Therapy Consortium (2014), and just this past June AveXis announced it will take forward human trials.
So during this awareness month let’s also spread the news about the amazing progress that has taken place. Progress made possible in large part by the relentless fundraising work of Rett families in the US and around the world. And let’s spread the word that until we have a cure in hand our work is not done.
Awareness is nice but a tangible impact on our children will only happen if awareness is coupled with action.
Only through action can we ensure that October Awareness will no longer be necessary.