Day 164...a beautiful autumn day

I love fall.  I love the colors, the cold weather, the carmel apple spice from Starbucks :)  So I was so excited to be able to walk to Garfield to pick McCall up from school today.  Usually I am forced to drive and pick her up because of errands, appointments, or work.  But today was laid back.  How nice.

Rhys got to try out his new stroller.  What a great ride he had!  He sits up so straight and high and the sunshade is great.  I think he likes it...



Thanks Papa & Nanny!

Then after a nice lunch, the kids and I went to the backyard to play for awhile.  They played in the leaves, tried out the swings and jumped on the trampoline.  Hopefully, with all this fresh air they should sleep good.  Wishful thinking!

Day 163...Happy Birthday Rhys

Wow...what a year.  Last year our biggest worry was what to name this little guy...
Remember?  He was baby Vian for 5 days.  Now I can't imagine him being anything other than Rhys Robert. 
He was our biggest baby...tipping the scales at 6lbs. 8oz. 21 1/2 inches long.  Rhys and I celebrated, at 7:39am...he is ONE! 
 It has been one of the most rewarding and heartbreaking years.  When he was born I could have never imaged the life that he had ahead of him.  I know he will do amazing things, and I am so thankful for what he has already taught our family.  I see unconditional love when I look at him.  I see tolerance, compassion and understanding that he will teach Bodie and McCall.  I see a smile that is contagious.  He reminds me that sometimes it is okay to stop and smell the roses (or eat them like he would).  He also reminds me that life is too serious, and laughter can cure anything!  I love being his Mommy...and I know, whether he can tell me or not, that he loves me too.  If you've never had a Rhys hug, your missing out...it's the best thing ever! 

I am ready to begin a journey filled with amazing people I will meet. People who have known pain and have grown with it. People who have, perhaps against their will, thrown out "perfection" and accepted the new face of reality where not everything is glossy and Hollywood. No, it's better. It's real and deep and beautiful.  I kinda laugh at my ignorance before all this and now I can brag about this new found place of peace and acceptance and realization that this is okay. So what if he doesn't walk 'til two? Isn't that actually kind of cool? Like I just added another year window before I have to worry about baby-proofing the house again. And all the other stuff that comes along? We can handle it. Why is it people think this is so the end of the world? Because it's not. It's the beginning. 

Happy Birthday little Rhyser...we love you to the moon and back!

Day 162...First Birthday Party

We celebrated Rhys first birthday tonight.  I decided that he should have a "Milk & Cookies" birthday party...since that's what kids like best.
I think it is safe to say that Rhys loved every minute of it.  He might have actually gone into a brief sugar coma...but that is what first birthdays are all about.

Thank you to everyone for making his birthday so special.  He is truly so lucky to have everyone around to support him!

Day 160...I'm shopping Mama

I asked Bodie to bring me his dishes from lunch so I could load the dishwasher.  He yelled back, "In a minute I'm shopping!"  What?  "I'm at Shopko Mama."  When I came around the corner, I found this...
Should we be worried?  Rob thinks we should get him a wallet to play with so he ditches the purple Tinkerbell purse.  I think it brings out his eyes...just kidding!

I think we are OK, because this is what he was transporting in the stroller...

MONSTER TRUCKS!


Lastly, I want to that you all for letting me ramble the other day.  Your encouraging thoughts mean so much.  When I started this blog I really thought I would be just watching my kids grow up and sharing it with our family and friends.  Boy was I wrong.  However, I am so glad that I have been able to put pen to paper (well you know what I mean) and pass information along.  Its therapeutic...its selfish, because it helps me.  I have a hard time talking about Rhys still, so I can type away without worrying if I will make it though the sentence without losing it.  I know that most of you still don't fully understand this syndrome, and neither do we. I still cry almost every time I post something about him, but it is much easier to cry in the comfort of my computer chair (its really comfy...thanks Brian & Amber).  So thank you all for allowing my ramblings and supporting our family along the way.

Day 159...The Google ban has lifted!

It's been about a month since we learned our wonderful (almost 1 year old!) Rhys is an "angel." Since then, I've been studying and reading everything on the internet about Angelman Syndrome or AS.  (Rob has lifted the Google ban…I think.)

It wasn't long before my trusty Google Search brought me to the marvel of a man named Dr. Weeber, who along with his colleges at Vanderbilt, have successfully reversed the neurological deficits in mice infected with AS. 

The more I read the more hope I have.  He remains very focused on the CamK2 molecule as a very significant one in the brain. This team is now trying to turn on the UBE3A gene, which is a protein as well. To activate, or turn-on that gene, they are injecting viral vectors so that it can start working again. Obtaining control of this UBE3A gene is key to successfully finding a cure for AS.  (Cousin Paul…can you translate to layman’s terms for me over Thanksgiving dinner?)

Interestingly, UBE3A also plays a big role in other more prevalent conditions like Rett Syndrome and autism. 80% of all autistic children have a gene duplication of this gene, while Rett Syndrome patients tend to be missing it. 

While Dr. Weeber is often approached by pharmaceutical firms who want to partner with him, he benefits by remaining autonomous. These firms are very motivated to find a "treatment" for AS finding a "cure" is not quite as lucrative for them. For that reason, Dr. Weeber uses government grants, and has benefited greatly from the administrations stimulus package. He is an honorable man with honorable intentions to find us a cure!

His research shows that the cause of lack of speech in AS patients is due to the fact that the imprinting is happening deep in the brain's speech centers. In hopes of correcting this symptom of AS, there is a clinical trial starting now in Boston which will explore the use of a drug called Levadopa, as a way to stimulate speech. This drug is typically used to improve muscle tone in Parkinson's patients.

So the question most on my mind... does he really believes a cure is possible for those like my sweet Rhys, who is already 1?

Of course! He explains it like this: Rett Syndrome produces a protein that effects how numerous other proteins in the body are made. In all, there are 30,000 proteins out there (who knew?). So, in the case of Rett's, it is a very extensive process to address each and every one. The great news for us, is that scientists already know the genetic cause for AS and it is identified in only one molecule - CamK2. So, when he can fix that one molecule, he will truly be able to offer us the miracle of a cure. Yippee!!

We are thrilled about his reversal success with mice, but what about humans? How soon can we expect clinical trials on people? More good news here. Dr. Weeber is starting to pursue pharmacological substances which are already FDA approved. What does this mean? It means that once he finds the right mix, he can go right into clinical trials and use people, and he doesn't think it is too far out.

So why am I rambling and wasting your perfectly precious time?  First, because I know many of you (like me) are still struggling to fully understand this syndrome that little Rhyser has.  Second, because it takes a village to raise a child and a village to raise awareness of AS.  The more we know the more we can help, right?

I feel elated when I read the progress that is being made towards a solution for AS. We couldn't have a nicer, more dedicated man in our corner.   I am so excited, because Dr. Weeber will be the keynote speaker at the 2011 ASF Biennial Conference in Salt Lake City in July 2011.  You can bet I will be there for that.

Thanks for letting me ramble.  It helps me to pass information along.  It helps me to know that someone is doing something to help these precious kids.  It gives our family hope…

On a side note, Rhys has had his helmet for a week now.  (For his flat head, completely unrelated to Angleman’s…he is just lucky!)  The good news is that he seems to be getting used to it, and it has saved the noggin in several Bodie related accidents!

http://www.cureangelman.org/latestresearch.html

http://www.eurekalert.org/pub_releases/2007-02/vumc-asd020807.php

Day 150...Pumpkin Patch

We decided to welcome the crisp autumn weather with a nice family trip to the pumpkin patch.  After some u-turns and a nice drive in the countryside we found Linder Farms.  Papa and Nanny joined in on the fun too!  So off we went on the hayride!

It was hard work picking just the right pumpkins.  McCall and Bodie immediately picked a little one for Rhys, but their pumpkin choices were much  harder.  After much deliberation they decided and off we went with 5 perfectly imperfect pumpkins.
Then we ventured into the petting zoo...and unfortunately it solidified in Rob that he desperately wants a goat.  Ya, that is just what we need.  Along with the goats there was a camel, pigs, a pony, sheep and a KANGAROO!  It was so cute...I kinda want one of those (just kidding)!



Then we snacked on the delicious donuts that I have heard so much about...all of the rave reviews did not steer us wrong.  The mini donuts did not disappoint.  I think I felt my arteries slowly clogging with deep fried sugary goodness.  It was getting really dark and cold, so the kids jumped in the corn box and made a "corn angel".  Weird, I know...

 The pumpkin picking took so long, that we didn't have time to get through the corn maze.  I still have the tokens, so we will make it back there someday.  Darn, I might have to pick me up a few more mini donuts...yummmmm!

 

Day 148...Happy 7th Anniversary!

Wow, I cannot believe it has been 7 years.  We have had quite a roller coaster of a marriage.  Lots and lots of ups, and a couple downs, but I am so glad that Rob and I get to share these together.  I am truly lucky to be married to my best friend.  We have done a lot in seven years...

I can't wait for the next seven, and the seven after that and so on.  I hope we make it to 60 years of wedded bliss like my Papa & Grandma Rene!  I love you Babe!