one year later

Ok, so one year and a day later...
Austin was diagnosed on January 25, 2008.
That day changed our lives forever... I wish more than anything that I would have been blogging at that time... I’d love to be able to go back and read some of those thoughts, and emotions that we were experiencing at that time... It was a horrible time for us... Completely devastating... Our son’s life changed in the blink of an eye...

I look back now, and sometimes I wonder how Mike and I made it through that... I shut down... I was a wreck... I remember just crying and crying for days on end... I was so upset... how could this happen... why me... more than that... why my child... what did I do in the past that was so horrible that my child had to deal with this...

And then slowly I started to realize that Austin was still .... Austin.... he was still my little boy... he was still the one that I loved so entirely... and he was still happy... sure ... his 23 month old self had no clue that he was different... he was too little to understand that...

The reality of SMA still hits hard sometimes... and I still tear up when I think of some of the things that he’ll never be able to do... and when I have to deal with people who just don’t get it... or with people who think they get how I’m feeling... but they don’t... how could they...

Overall, we’ve come a long way... and we are all three very happy... Its still hard... but honestly our life didn’t change... how could it... we were already dealing with the SMA before the diagnosis... it just didn’t have a name... Austin is actually stronger now than he was when we got the diagnosis... and he can do things that I never thought I’d see him doing... I am so proud of him and I can’t wait to see what his future holds...

He told me a few days ago that he was going to be “A rockstar” ... and I believe him... The child has a love for music like I’ve never seen in a baby... he’s happiest listening to the radio (or Pandora... or youtube... lol) singing along... Santa brought him a guitar for Christmas... and he loves playing music and singing songs...

Its hard for me to believe that it was just a year ago that we were getting this news that we thought had ended our life... If anyone told me then that our life would be like this now, I’d never have believed them... I would have never imagined that Austin would be in preschool... doing things that every other kid his age does...

I want to thank all of you for standing by us... praying with us... and helping us find our way to this life that we have now... I truly do live in paradise... and I really do love my life...

I wish I could find Missy’s email... or phone number... or something... she helped me so much... she was the second contact I made in the SMA world... and she chatted with me through email and IM for hours while I sobbed and cried about it... and I then she helped me realize that nothing changed... we just had a name for the reason that Austin fell so often... And she helped me meet other great families... through that I found the hope I needed ...

A month later Austin started the VPA treatment... and we haven’t looked back... I can’t tell you how excited I am about the promise of Stem Cell treatment... I believe with my whole heart that there is a cure... and that they are close to finding it...

If you have time please visit http://www.fsma.org/ donate if you are able to... or at least spread the world about SMA... so that Austin and children like him can get the cure that they need.

Families of Spinal Muscular Atrophy Funded Stem Cell Motor Neuron Replacement Program.

This was posted on FSMA's website December 30 ,2008
click here if you want to read it straight from them.

FSMA has invested significant resources in alternative approaches that show promise to cure Spinal Muscular Atrophy rather than just treat the symptoms. In particular, we have invested $1.5 Million to develop a motor neuron replacement therapy for SMA, and we have made significant progress with our investment.
Our initial investment in stem cell research in 2000 funded efficacy studies using motor neurons from mouse stem cells. Results show that this therapy can provide benefit to rodents with motor neuron disease: a highly significant finding. In 2005, additional FSMA funding lead to the first, highly-pure therapeutic population of human motor neurons for cellular replacement therapy for SMA. This program is now progressing on the path to IND in collaboration with the biotech firm California Stem Cell, Inc. (CSC), and leading research centers at University of California-Irvine, and Johns Hopkins University. These motor neurons recently completed a series of critical animal safety studies prior to advancing into human trials for SMA.
Motor neuron replacement is at the leading forefront of current scientific knowledge, and as such is very high risk. However, this approach allows for the possibility of replacing lost motor neurons and so holds great promise for the patients and families in our community.

“FSMA provided the first financial support for my research program investigating the development of high purity human motor neuron populations from stem cells, and their application to animal models of SMA. This work has grown into a multi-tiered program that now involves several funding agencies, an industry collaborator, a clinical collaborator and FDA relations. I will always consider FSMA my partner in pioneering this technology, and moving it towards human use.” Hans S. Keirstead, Ph.D., Associate Professor of Anatomy and Neurobiology, Co-Director of the Sue and Bill Gross Stem Cell Research Center, University of California at Irvine.
Pre-clinical efficacy studies have been completed, demonstrating correct localization of CSC motor neurons in the ventral spinal cord, cell growth from the spinal cord toward the limbs, synapse formation with target muscle and functional reinnervation leading to restoration of limb function in animal models of motor neuron loss.

Results of the Safety Study for SMA Type I Clinical Application:
The pivotal safety study, required to support an application to begin FDA clinical trials, has recently been completed. Although final data analysis is still in progress, there were no negative outcomes of this study, leading to the conclusion that motor neuron replacement will be a safe strategy in the treatment of diseases such as SMA characterized by motor neuron loss.
The purposes of this study were to evaluate the capacity of a motor neuron progenitor cell population to form tumors following transplantation into the spinal cord, to determine whether motor neuron transplantation would induce allodynia (increased pain sensitivity), and to evaluate the biodistribution and potential toxicity of motor neurons transplanted into the spinal cord.
Results showed:
-No mortality attributed to treatment with motor neuron progenitors occurred.-No tumors occurred that were attributed with the transplanted motor neurons.-No statistically significant differences occurred between the cell buffer (control) and treatment groups in the clinical allodynia (pain) assessments.-No toxicological profile differences between control and treatment groups.-No gross or histologic findings were attributed to the transplantation of CSC motor neurons.
Preparations for Clinical Trial Approval:
“California Stem Cell has developed methods for the manufacture of clinical grade human motor neurons. It is the intent of CSC to gain approval to begin FDA-approved clinical trials for the use of these cells in development of a cell replacement therapy for SMA Type I. CSC is now preparing for a final FDA pre-IND meeting to take place in the first quarter of 2009, keeping us on track for a formal application in the second quarter of 2009 to begin a Phase I/IIA clinical trial in SMA Type 1.” Chris N Airriess, Ph.D., Chief Operating Officer, California Stem Cell, Inc.
Other preparations currently underway include: An external clinical trials coordinator has been engaged and medical community focus groups held to develop the clinical strategy for SMA trials; CSC manufacturing facilities and procedures have been audited for compliance with guidelines for clinical manufacturing.

Tuesday

So, we had our 6 month check up with Dr. Golden... and it went really well. She did talk to us more about seeing Dr. Swoboda. And she still thinks it would be a good thing. She is going to get back in touch with her and get more information from us. We need to get in touch with our insurance company and find out if they will cover it... I'l ladmit I'm a little nervous about that... Its going to cost us an arm and a leg... but I think it would be an awesome expeirence for us.

Dr. Golden said that she thinks because of Austin's stregnth and ablilites it would be more beneficial for the research for him to be seen... She said you don't get to see many kids who are as strong as he is and who continue to gain stregnth like he has... (I know I've read some stories on some pretty amazing kids, so it makes me wonder exactly what she sees in him that is so special). And then we will have the added benefit of being that much closer to the new treatments that will be coming out soon... that Dr. Golden won't have access to...

She also mentioned that he is walking better... he is really bending his knees pretty well now... as long as he is walking... he still swings them a bit when he is running... she also was really impressed at the stregnth he's got in his upper body that he didn't have last time she saw him... (she measures that by holding him up under the shoulders and away from her body...)

Then, of course after wards we had to go down to the hospital and get some blood work done... and our first urine sample... Austin was such a trooper!

After all of that we met Ms. Lisa at a local park. We had such a great time!
I've posted some pictures below.
Austin is getting the whole stair thing down...
and he loves the slides... and we even got him try the swing... but I didn't get any pictures of that... sorry! Now, on to the pics... Enjoy!

Sliding

Ms. Lisa, Austin, and Mike looking for birds

Playing with a stick (or as he calls it a "Tree")

Trying to hit the pinecone with his "tree"

Practicing the stairs

Made it to the top!

Walking across the bridge with Ms. Lisa

And another bridge

Sliding!!!!!

Going again!!

YAY!

Another bridge

Having so much fun.

Driving

Physical Therapy update

I can’t believe I forgot to post an update on this!

We saw Ms. Lisa Tuesday, and she is very pleased with Austin’s improvements in the last month. He was so cooperative and really seemed to be having fun with her. Its cute to watch him interact with someone else... Especially an adult... He makes me so proud...

She did give us a few more things to work with him on during our day to day life, but she said to keep it fun and follow his lead. Make it a game, and he’ll want to “play” along.

She was particularly impressed with his speed and “ease” getting up... Yes he is still pushing up on his knees with his hands... but he was doing it with one hand while holding a toy in the other.

And he is starting to try to pull down his own pants and underwear! And he is even trying to pull them up... He can get them about half way down.. so she was trying to find some ways that might make it easier on him to get them all the way down... so we are experimenting with some of them.

It was a really good visit and I am already looking forward to the next!

SMA AWARENESS MONTH

August is SMA Awareness Month

I have wanted to post sooner, but I just didn’t know what to post about... I am so new to a lot of the SMA world, and I don’t keep up with SMA news like I would like to... I actually just found out Friday about SMA Awareness Month... So I have been searching my mind trying to think of a way I could help spread awareness... and since the internet seems to be my best friend somedays, I figured it was my best bet, so then it was the what am I going to share?
And this morning on my normal blog reading (of other SMA patients and parents) I stumbled across this and I just thought it was a really great idea...
It just seemed perfect for me... (You know how I love to shop)



I have a really great fundraiser to share with you that benefits FSMA (which, by the way, raised $5.1 Million over the last year…and dedicated over 80% directly to research!) It is called “SHOP FOR A CAUSE” and FSMA has teamed up with MACY’S for this event. It is Saturday, September 20, 2008. On "Shop for a Cause" Day, guests have an opportunity to participate in a unique shopping experience including discounts, entertainment, special events and the opportunity to win thousands of dollars worth of prizes. Buy your $5 Shop For a Cause Saving Pass and enjoy special savings on select merchandise througout the store in addition to regular and sale merchandise specials.
20% off* regular, sale, & clearance women's, men's, & kid's apparel & accesories, fine,bridge & fashion jewelry, bed & bath items, housewares, frames, luggage, china, crystal& silver, all kitchen & personal care electrics & technology items.
10%* off regular & sale furniture, mattresses & rugs
Plus, open a Macy's account and get an additional 20% off
Click here to order your shopping pass...
www.fsma.org/shopforacause
100% of the proceeds from the sale of the shopping passes goes to FSMA!

...Salt...and a Lake... in a City?

Salt Lake City

What’s in Salt Lake City?
I know I drove through...
But honestly I don’t remember much...
I remember seeing these salt deposits that stretched for miles... and appeared to look like water in the distance... but I don’t really know what (if any) else is in Salt Lake City...
EXCEPT:
one of the best doctors for SMA patients...
And guess who she would like to see:

Yep, Austin! I talked to his neurologist about a week ago and she told me that she had spoken with Dr. Swoboda about Austin to see if she’d be interested in seeing him... and she is!!!! Dr. Golden said that she would talk to us about it more at his next appointment (I’m not sure yet when that will be... I am thinking November for some reason... but its MDA clinic... so I won’t really know until I get the letter in the mail)...

I am so excited! I have wanted and secretly hoped and even said a prayer or two to get Austin in with Dr. Swoboda... but now the reality of getting to Salt Lake City is setting in... I don’t know if we will be able to do it... I mean, we’d have to fly... and 3 plane tickets will cost us an arm and a leg... and then we’d have to get a hotel room at least for a night... and that will be pretty pricey as well...

I’m still not sure when or if we will really go... and who knows, maybe I’d have plenty of time to save... My grandma said she’d try to help...

PLEASE pray that we find a way to get him there!!!

Help us Fight SMA

PLEASE SIGN THIS PETITION TO HELP CURE SPINAL MUSCULAR ATROPHY, THE #1 GENETIC KILLER OF CHILDREN UNDER THE AGE OF 2.

We need your help to move landmark legislation through Congress that will allocate federal resources to non-profit and research organizations focused on finding a treatment and/or cure for SMA.
SMA is an inherited genetic disease that results in loss of nerves in the spinal cord and weakness of the muscles connected with those nerves.
SMA is the #1 genetic killer of children under the age of 2.
SMA is estimated to occur in nearly 1 out of every 6,000 births.
The gene mutation that causes SMA is carried by 1 in every 40 people or nearly 7.5 million American.
There is currently no cure, but the National Institutes of Health (NIH) and the National Institute of Neurological Disorders and Stroke (NINDS) have selected SMA as the disease closest to treatment of more than 600 neurological disorders.
Researchers estimate that we are as close as only a few years away from finding a treatment and/or cure.
http://www.petitiontocuresma.com/

I will not know if you signed this or not.... and even if I did know... I would not care if you choose not to.
I don't forward a lot of emails, because I don't like to bother people with sillyness...
Most of you know that Austin has SMA ...

This is something VERY important to me...
PLEASE take some time and sign this... It isn't some fake internet thing... Its real
Its all online... and you can even block your name from being seen by visitors to the page...

PLEASE, help us find a cure!

Megan La Rue
Check out Austin's webpage:
www.caringbridge.org/visit/austinmichael228
Check out my MySpace:
www.myspace.com/hunkymonkeysmommy
www.myspace.com/photos_by_larue
Check Out the family blog:
http://elliott-paradise.blogspot.com/