Boston and Washington DC – Trials and Conferences!

Sorry that my blog posts are sporadic lately.  We have been one busy and crazy family.  I do realize that me talking is beneficial to some people (my husband would probably disagree;))

After almost 3 years into our Rett life, I was finally able to go to a rettsyndrome.org (formerly IRSF) family conference.  The main reason I have been unable to attend is that it has been before our family travels back to the Northeast to visit our families for the 4th of July.  This year, plans were and are different because of my amazingly brave daughter.  Elizabeth will be going to Boston to hopefully participate in the IGF-1 clinical drug trial out of Boston Children’s Hospital.  We have done 3 screening phone calls and then will do the in person screening visit on July 14th.  As long as all goes well on this screening visit, we will start her first 10 day visit to Boston to participate in the trial.  It is a double blind cross-over study to test the efficacy of IGF-1 in treatment of Rett syndrome.  We are very excited that we can participate even if we do have much west coast/east coast travel to be doing in the next year and one half to participate.  We are doing it all in the name of Rett syndrome and in the name of research so we can help our friends with Rett syndrome and future generations of kids that will be born with Rett syndrome.  We strive for a cure and this is a step in that direction.

For more information, please see rettsyndrome.org’s press release… http://www.rettsyndrome.org/press-release—igf-1-phase-1-rett-syndrome-clinical-trial-deemed-safe

Back to the rettsyndrome.org’s family conference.  This year the conference was held in Chantilly, VA.  Chris and I decided where it was on the other side of the country and that the kids and I will be traveling a lot in the next coming year that I would go solo.  No complaints from this stay at home mama.  4 days by myself with people who get it and a cozy bed in silence with no snoring or calling out to Mama!  Heck yes, sign me up.

Another local Rett mama, who I have become friends with in our short time on the West Coast, was on the same flight as I.  We someone managed to almost be next to each other.  We started the trip off a little rocky with a flight delay scare, but Virgin America found another plane and got us on our way only 15 minutes later than expected, but almost 1 hour quicker had we waited for our “assigned” plane to arrive.  We got into DC with no problems, other than me not being able to sleep.  But I can run on empty for a bit.  We got to socialize a bit and I got to meet our Boston Children’s Hospital Rett syndrome team. They of course recognized Elizabeth’s name:)

The conference started at 5pm and I had a strollaton meeting at 3pm.  It was great to get ideas and I am going to be shadowing and helping out with the NorCal strollathon chair instead of running my own entire strollathon like I did last year in Central Texas (an awesome Grandma is doing that one again this year).

It was amazing to be in a room filled with families, friends, teachers, therapists, scientists, doctors who have an interest in helping our children with Rett syndrome succeed in this world.

The conference was a world wind of information and I learned so so much.  Our keynote speaker was Emily Perl-Kingsley who wrote “Welcome to Holland”.  I only knew her for this passage, but she has been a writer on Sesame Street for 40plus years and is Mom to a now adult with Down syndrome.  She was inspirational, honest and an advocate for children with special needs even before it something people did.  She asked the producers if she could include children with disabilities on the show and they said Yes.  Pioneers  Can you imagine a time where it was socially accepted to institutionalize your child because they had special needs.  This makes me sad.  It is also is an eye opener that we have come a long way in a short time in the special needs world and in the Rett syndrome world.

I say that we have come such a long way in a short time in the Rett syndrome world because it has only been a “known” disorder in the United States of America for 30 years.  30 years!  30 years ago, the medical article was originally in German and was translated into the English language in 1984.  Dr Rett came to the US and met many families and actually confirmed their diagnosis’s.  The first family conference was in Baltimore, MD (the same area as Chantilly, VA).  Dr Alan Percy of UAB (University of Alabama – Birmingham) was on the front of Rett syndrome and he has been actively involved his entire medical career in figuring out how to alleviate/reverse Rett syndrome and cure Rett syndrome.  Will a cure be possible?  I hope so.  Dr Percy gave several talks and one of them  he ended with his telling us what Dr Rett would think about where we are in treating Rett syndrome.  In my words, “Damn proud”.  I have only had little interaction with Dr Percy in the past as we were at Texas Childrens with Dr Glaze.  I truly appreciate Doctors who are emotionally and physically involved in their patient’s care.  Dr Percy had tears in his eyes several times over the weekend because he KNOWS how close we are to unlocking the neurology of Rett syndrome.  If you haven’t thanked a Doctor lately, thank yours.  They work their butts off and try to make a difference and when they do, they need to hear our voices on behalf of our girls or even on our own behalf.

I learned about all the trials going on and the science behind it.  The genetics of Rett syndrome.  I got ideas on how to teach Elizabeth to read and write through adaptions.  There is so much technology to help our children communicate who communicate in non-tradional ways.  So much, so much information.

In the midst of this learning-palozza, I met new and “old” friends.  I say old friends because we have such a things as internet and social media and blogs and we are able to connect with people via cyber-space that we could never have connected to easily before.  I can imagine life before internet because I lived it, but not as a special needs parent with a child with a rare disorder.  The Rett syndrome community is very welcoming and we all work for a common cause, to make our children’s lives better and to Cure Rett.  30 years ago, it was landlines and letters and lots of travel if you could afford to do that.  Those parents are helped paved the way and we are doing the same for parents who come after us.

I met a friend who lives in Texas (not too far from Austin) who after her daughter’s diagnosis was given my blog website by her father-in-law who was given it by one of his clients in Austin who’s wife’s friend had a daughter with Rett syndrome.  YES, YES, YES.  Awareness at the highest value.  Even though we do not see them on a daily basis and have moved from the area, they KNOW the importance of community and the importance of putting this newly diagnosed family in touch with the Rett syndrome community.  My first thing I did when I came back from the conference was to call this family and say THANK YOU.  Thank you for loving my child and my family and making a difference to this family and making their road a little bit easier and much less lonely.  You know who you are and again I thank you and thank you and thank you.  Love and miss you dearly…till we meet again.

The whole experience was amazing, I have a hard time putting it into words, but the exhaustion fro this past weekend was well worth it.  In 4 days, I got 20 hours of sleep in 96 hours and learned so much and enjoy many after hours drinks and after hours chats.  I would not trade the opportunity to go in a million years and am already planning next year wherever it shall be and I have already volunteered to help…

To everyone who made the 30th annual conference possible, thank you.  For all the parents and educators who were there who shared their experiences, thank you.  For all the grandparents, thank you.  For all the scientists, researchers, and doctors, thank you for making our daughter’s a priority and seeing them in everything you do.  For all the therapists and disability advocates out there, thank you!

In the stages of grief, I am in between 4 and 5.  In between depression and acceptance.  And I think that is ok.  I have accepted Rett syndrome, but that doesn’t mean that I am going to stop fighting to help my daughter and all her friends with Rett syndrome.

If you are reading this, please consider coming to a conference regardless of how you are related to Rett syndrome.  We need everyone on board.  All Aboard…Let’s do it!

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