Wednesday, October 17, 2012

Buddy Walk & Advocacy


This year was Jules's second Buddy Walk, and it was so much better than the first!  Last time, it was just the three of us, but this time, we had Jim and Patty drive all the down from Charlotte and back (in one day!) to be there.  And we knew people, like Julia's therapist Beth, who stopped by our tent:
That was us:  "Fools for Jules."  It was actually one of my first art projects for Julia, which is why it looks like it was drawn by a child.  Nonetheless, it was a great time of family: both our immediate family and our new and ever-growing Down Syndrome family.

And this is the reason for this post.  In the spirit of advocacy for Down Syndrome Awareness Month, I attended a Webinar put on by the NDSS (National Down Syndrome Society) and the DSRTF (Down Syndrome Research and Treatment Foundation).  The latter is a lesser-known organization that funds research, partly through having a marathoning team (which I'll be joining when Julia is older and can come with me to Disney World!).

So please grab a cup of coffee or an alcoholic drink (is it after 3 p.m.?), and get ready to read my somewhat copious notes about the webinar.  I'm hoping that we can all learn something without all of you sacrificing an hour of your precious time~

The first thing I learned is that mice can have the equivalent of Down Syndrome, but instead of T21, they have an extra chromosome on their 65, so they are called Ts65Dn Mice.  They have similar facial features, shorter necks, and shorter limbs, just like humans:
Cute, huh?  It's like a Corgi mouse :).  Anyway, the interesting part is that they also have issues with spatial orientation, learning, and memory, and that scientists located these in the hippocampus of their brains--I don't want to know exactly how, since it probably involved the death of these Corgi-mice.
They also realized that the cerebellums (cerebelli?) of these mice are, like those of humans with DS, quite small.  Here's a great website that explains brain functions: http://serendip.brynmawr.edu/bb/kinser/Structure1.html.

In relation to the cerebellum size, the Arizona Cognitive Test Battery was performed on young adult mice, who took time out from drinking and partying to help out the cause.  They actually came up with a drug to restore the size of the cerebellum, but it was turned down by the NIH.  The exciting thing about this study is that, once cerebellum size was restored, the mice could do the same stuff as normal teenage mice.  The other exciting thing was that these mice were not babies, and that brain function could be impacted even later on in age.

A different, but no less important, study found that a specific set of neural connections is out of place in the Ts65Dn mice.  We all of excitatory and inhibitory stuff in our neural pathways, and mice with DS have too much of the later.  If scientists inhibit the inhibitory neurons, they can restore electrical conductors.  In order to inhibit said neurons, scientists used a drug, PTZ, and treated a mouse model.  In this article about PTZ, authors also mention side effects like severe seizures (effects that the webinar speakers conveniently left out).  They've started clinical trials of PTZ in Australia, and it seems successful; in fact, performance keeps improving for 2-3 months even after the drug is withdrawn.  So the big question is "how will this affect adaptive behaviors in humans?"  In other words, how will nature and nurture interact here?

I don't know how I feel about these drugs; I'd like to learn more about their side effects and make sure they are safe, but the prospects seem quite exciting!

The second part of the webinar (grab another coffee/drink here) was about advocacy.  There are five branches of action that the DSRTF is focusing on:
1) Drugs like PTZ and the cerebellum-growing-one
2) Sleep (??)
3) Behavioral Neuroscience
4) Alzheimer's - we'll get back to this in a bit
5) FUNDING.

An 8% across-the-board funding cut to the NIH has really hurt the congressional momentum of DS advocates.  Although DS has support across the aisle, there are many things that people can do.  The NDSS is working on establishing a patient registry; offering competitive grants for 6 Centers of Excellent (one of which should, I think, be in the Lowcountry!); fostering dialogue through the NIH DS consortium; and addressing Alzheimer's in collaboration with DS (since people with DS are highly likely to develop the condition).

How can you get involved and help people like Jules?  Check out the NDSS Online (link above); if you sign up, they will send you advocacy alerts.  I just signed up, and it took 1 minute (literally) of my time.  You can also join the DS Ambassadors Program, which builds liaisons between congressional delegations and the DS community.  Finally, you can attend the Washington DC Buddy Walk, which features an Advocacy Conference.

If you're reading this all as an adult, Jules, sorry it didn't sound much like a letter TO you, but I'm sure you will be involved at this point.  Hopefully, you can look back on this and read about the huge amounts of progress that have been made, not only in research and "treatment," but also in human treatment: in acceptance and inclusion.

And if any of you want to listen to the actual webinar, it's available on the NDSS website.  I wish I could post every day for DS awareness month, but I'm super busy with work and raising you, Jules...so I'm just writing more instead!



Sunday, October 7, 2012

WALKING!!

We are beyond excited.  Every day, you walk a few more steps; on Friday, you walked 8 steps total.  Well, today, you walked five in a row.  This is sooo huge for us.  We have been doing treadmill training with you for about 6 months now, and I'll have to videotape it for here.  But here it is: the videotape of you taking your very first steps:
video
And just in case any of you want to read about treadmill training and its benefits--if you're not convinced by our 20 month old practically walking!!--see this article.
I want to definitely write about the Buddy Walk, but I'll save that for tomorrow.  This is so huge that we all just want to savor it.  Love you!  Mom

Tuesday, October 2, 2012

Ellieotte Carol Burch, my BFF


Posted by Picasa   This is from forever ago, and Elliotte is a big girl now- I'll have to find an updated picture!!

Please Comment!

Dear Jules,
When you read this--when you're older and interested in such things--I really hope that I can also share with you comments from your family and friends.  So if you're reading this blog, please please take a minute to comment!
I will be posting soon, as the Buddy Walk is this upcoming Sunday!!  We will be going, fo' sure, and Grammy and Papa are coming down from Charlotte for the day.  I'm also trying to get some more of our friends to come out.  And you'll be meeting Trent, someone I've only met online but whose mother, Elizabeth, has become my facebook friend.  Trent is only a few months younger than you and also has DS...and looks like such a cutie.  I absolutely cannot wait, and I know I'll have more pictures to share.
In honor of DS awareness month, I'm trying to post every day (ha!).  Well, as often as I can.  And so here's another cute picture of you, hamming it up as always: