A long year…

This past year has been a lot of things.  The one thing it has not been is unsuccessful (yes that is a double negative;)).  That is saying a lot when you think the past 365 days.  October has always been a turning point for me.  Last year in October, we made a HUGE move to Northern California.  My sweet little boy’s birthday was last week and he learned how to sing “Happy Birthday to you, Happy Birthday to you, Happy Birthday Charlie, Happy Birthday to you”. It was the sweetest thing ever and a whole new ball game for us (WooHoo for SF Giants on your 2014 World Series win tonight).

A “new” friend, well actually an “old” friend because she is my Dad’s cousin.  She has lived in the Bay Area for at least 30 years so though we “know” each other and stories we had never met in person until we were on the other coast (Maine) this past summer.  She has always been a supporter of our family and especially of Elizabeth.  She has a way about herself and just knows.  She read an article in the New Yorker recently and saved it for me and mailed it to me and sent me bookmarks because we both have a love of reading paper books:)  You are probably wondering, well “What did she do?”  “What did she share?”

I tried to scan the article, but it was “No Bueno”.  So I searched for it and found it online!  SCORE!


This article showcases the struggle parents face when faced with an unknown genetic disorder and how we reach other to others to find common ground.  These parents used social media and internet blogging to reach out and find other parents with children with potentially the same disorder and they found some!

Rett Syndrome was this way…30 years ago.  It was a little known genetic disorder with diagnostic criteria but not until 1999 (15 years ago) did it have a genetic known basis that could be tested by blood work.  Rett Syndrome has a large community now that is tight knit but it is a cracked community.  I have only been in “Rettland” for 3 years, but it hurts to see.  We should be embracing each other and ALL research and ALL attempts at trying to alleviate symptoms.  We should be all working together and accepting that if there was only one way to crack the code of Rett Syndrome that we will never get there.  Rett Syndrome is complex and to solve a complex problem we need to look at it at different angles.  With more “eyes” and opinions and educations, we will get there.  If one thing doesn’t work, another thing will.  We are at at a turning point.  There are clinical drug trials, we know what causes it Rett syndrome and how to fix it, but can we do it in humans?  That is the key.  The human side of research.

We are participating in the IGF-1 trial in Boston and stand by it and the Doctors and Researchers who are helping bring “research to reality”.  If people don’t participate in the IGF-1 trial, how can we know whether it will work and whether it will help.  If it doesn’t work and doesn’t help, we won’t know that until we try it.  If it doesn’t work, then that will lead us to new and different research.  We need to remember that there are people behind research, doctors and researchers and family and parents and patients.  In this case, the patients are children.  They are the most important.  The patients are the most important.  They are the human side of research…Our children, our life and our legacies.  I want to leave our footprint on the world and I think we are doing it.

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