$250,000 for Sanfilippo!

Overview

Sanfilippo syndrome is a genetic error of metabolism that affects children. It is a mucopolysaccharidoses, an MPS disorder, MPS-lll. Mucopolysaccharides are long chains of sugar molecules, used in building connective tissues. When the body is finished using these molecules, it breaks them down, with enzymes, and disposes of them. Children with MPS are missing or are deficient in the enzyme to break down the molecules. Instead, the body stores these molecules and this causes progressive damage.

Thus, we plan to construct a vector plasmid for a self-complementary rAAV vector that creates the enzyme to break down the molecules. Once the vector is constructed, we will infect human MPS III skin fibroblasts cell cultures to determine the levels of expression and secretion of recombinant enzyme. After successfully replicating the vector, we will provide the GMP vector for preclinical studies and make this treatment available for all children impacted by this devastating disorder.

How will the 250K be Used?
Budget Notes: The award money will NOT be used for any animal testing.
$ 75,000	Production, optimization & validating of vector
$ 75,000	Perform studies on patient fibroblast cells
$ 100,000	Production of clinical grade vector

Saturday morning happenings!

JJ is all done in!

Beeba enjoying a conversation with  ?       not sure who......hopefully she didn't call Norway!     

Ummmm, Ama I'm texting!  Don't bother me!

The pacifier club!

Want to join our club?

Ummm it's cold out here!

Please can we come in?

What do you think Lucy should we let them in?

OK guys you can come in!

We've got toys!  umm and your remote, Bubba!

Oh no! It's Bubba! 

No Bubba you can't come in!

What do you think Luce?  Should we let them in? 

Ya!  But hide the remote!

We love you, guys! 

A new treasure ~ peace

In a study I'm doing on Tuesday morning ~ we are studying the fruits of the spirit.  Today we looked at peace.   Our study had us read in John 6.  The passage where Jesus feeds the five thousand.  I was struck by verse 10 where Jesus instructed the people to sit down and that there was enough grass for 5000 to sit on.  Then He passed out the food to those who were sitting down.  They were then fed from five loaves and two fish to over flowing.  I was struck by the words to sit down, that He only fed those who were sitting down.  I wondered if God desires us to sit down and maybe be still so that he can feed us.  How often do we eat on the run.  I know I sometimes do.  We want to be fed by Christ but we are often too busy to sit down.  My heart was touched by the words He spoke to his disciples to have the people sit down.  Then He fed them to overflowing.  Does He offer that to us today?  I believe He does.  He has enough peace to give with overflowing baskets left over so we can give to others.  What a gift.....a new treasure!  Peace! 

Romans 15:13


May the God of hope fill you with all joy and peace as you trust in him, so that you may overflow with hope by the power of the Holy Spirit.


John 6


Jesus Feeds the Five Thousand

1 Some time after this, Jesus crossed to the far shore of the Sea of Galilee (that is, the Sea of Tiberias), 2 and a great crowd of people followed him because they saw the signs he had performed by healing the sick. 3 Then Jesus went up on a mountainside and sat down with his disciples. 4 The Jewish Passover Festival was near.

5 When Jesus looked up and saw a great crowd coming toward him, he said to Philip, “Where shall we buy bread for these people to eat?” 6 He asked this only to test him, for he already had in mind what he was going to do.



7 Philip answered him, “It would take more than half a year’s wages[a] to buy enough bread for each one to have a bite!”



8 Another of his disciples, Andrew, Simon Peter’s brother, spoke up, 9 “Here is a boy with five small barley loaves and two small fish, but how far will they go among so many?”



10 Jesus said, “Have the people sit down.” There was plenty of grass in that place, and they sat down (about five thousand men were there). 11 Jesus then took the loaves, gave thanks, and distributed to those who were seated as much as they wanted. He did the same with the fish.



12 When they had all had enough to eat, he said to his disciples, “Gather the pieces that are left over. Let nothing be wasted.” 13 So they gathered them and filled twelve baskets with the pieces of the five barley loaves left over by those who had eaten.

Thank you for voting!

A big thank you for taking a few minutes to vote for this gene therapy that Pepsi is offering to help fund.  If we win this money we can be so excited about the possibilities.   I've been in awe seeing and hearing that people are so behind our family.  So continue to vote and please pass it on to anyone and everyone.  You can vote up to 3 times a day using your texting, email and facebook through January 31st.   This is the first hopeful news that we have had.  So thank you for getting behind this as well.  God's blessings to all of you!

Please help !

PEPSI REFRESH

Team Sanfilippo, a group of parents who are committed to finding a cure for this horrible disease, is in the running for a $250,000 grant from Pepsi. For the entire month of January, people can vote for their favorite projects. The top finishers win the money. We want to use the money to fund a researcher at OSU, who is working on finding a treatment using Gene Therapy. We need VOTES. You can vote 3 ways - text, email and via facebook - each day. I know it is a lot to ask, but if all of my facebook friends and blog readers vote, it gets us that much closer to a cure. Do it in honor of Jayden and Brooklyn. Ask your friends and family to participate. Share the links on facebook or your blog.

 

Here are the details for voting:

1. TEXT to contact “73774” (it stands for Pepsi) the message “105582”

 

2. ONLINE Vote at http://www.refresheverything.com/curesanfilippo with every valid email account you have (work, personal, yahoo, hotmail, gmail, etc.) After you vote, click the Facebook icon on lower right to share our voting link with everyone on your FB. Remember, the sound of the Pepsi can opening verifies you are now logged in. To cast your vote, you must click the ‘vote for this idea’ button again.

 

3. ONLINE VIA FACEBOOK You can upload a Pepsi application that lets you and your friends vote from your FB page. http://apps.facebook.com/pepsirefresh/idea/ Or, click on a http://www.refresheverything.com/curesanfilippo voting link shared to your facebook. Or, click on LOGIN WITH FACEBOOK button on the top left of Pepsi login window. 

 ***please print and distribute the attached flyer!

 

Trusting Him-
Stefanie Boyce
email: stefanieboyce@yahoo.com
family website: www.buildwiththeboyces.com

What do I treasure?

As I watched the movie The Nativity I was again awe struck by the miracle of Jesus birth.  What a tremendous gift we were given.  I decided to read Luke 2 several times in the weeks before Christmas.  What struck me as I was reading this passage over and over again was the verse that says and Mary  "treasured all these things in her heart".  I began to ask myself  "what do I treasure?"  What have I treasured in the past?   What things have often consumed my heart and caused me to miss what was most important.   This last year I began seeking a different treasure.  Sanfilippo entering our lives would  begin to change my heart and would remind me over and over what was most important.  I would receive the treasure of brokenness. This treasure would remind me that even when life was hard I could believe that God was still good!  I desire more of his treasures to grow in my heart in the year 2011!  So my prayer this next year is that I would truly discover more, much more of the treasures of God. 

Treasures ~ gold, frankincense and myrhh were the treasures brought to the babe who was wrapped in swaddling clothes.  Treasures brought by the wise men who came and worshiped Him.  As I thought about each of these treasures that were brought to the baby Jesus ~gold ~ which represents his royalty, gold was a very expensive gift, much like today.  Frankincense ~  a rare and expensive incense that had a sweet smell as it burned and was used only in worship to God.  Myrhh ~ an expensive perfume that was most often used in burials.  So it was possibly given to Jesus because he was born to die. 

So as I think about the treasures that were given to Jesus, the savior of the world, I wonder how can those gifts, impact my life today?  How can I be changed by these treasures?  I know that those gifts were given with hearts full of worship and praise for the new born king.  Maybe the gift for me and for us, is finding that same worshipful heart, seeking and praising him in new ways this year.  God bless each of you as you worship and seek after the babe who came wrapped in mercy and grace!  He who was given treasures and was Himself the treasure for me and for you!

Luke 2:19 ~ But Mary treasured up all these things and pondered them in her heart.

Matthew 2:10-11 ~ When they saw the star, they were overjoyed.  On coming to the house, they saw the child with his mother Mary, and they bowed down and worshiped him. Then they opened their treasures and presented him with gifts of gold, frankincense and myrrh.

a tree, a star and a little boy!

Jayden was curiously looking at our Christmas tree the other day.  I had just finished decorating the tree and it was the first time he had seen it.  Our tree stands about 7ft tall and was beautifully lit with at least 1000 white lights.  I had put a simple star at the top.  That morning I noticed Jayden staring at the tree.  He slowly raised his arms with wonder and awe as if he wanted to hug the tree or maybe he was wanting to reach the star.  I'm not real sure.  He had such a sweet, whimsical and somewhat worshipful look on his face, as he lifted his arms.  In that moment I was touched by his tender embrace and the sweet smile and look of astonishment.  The wonder on his face was completely the wonder and joy of a little child.  I know he doesn't understand that the star at the top of the tree reminds me of the star that shone so bright over Bethlehem the night that Jesus was born.   I know Jayden didn't understand the worshipful attitude he showed me that morning.  But Jayden reminded me in that moment of what was most important.   I sensed in my heart a deep desire to worship the babe that was wrapped in swaddling clothes and lying in a manger.  The babe who came wrapped in mercy and grace.

That simple star at the top of my tree was pointing and reminding me of the most important gift....the gift of a saviour, the gift of His presence.  So I have to thank a little 4 year old boy for reminding me and pointing me to that baby, the gift of God.   A moment I won't soon forget.  A moment that caused me to worship Jesus in a new way.   The wonder of a child.  I'm glad that I didn't miss the gift of a little 4 year old boy, in a tender, childlike way pointing me to the most important gift of all.   Thank you Jesus for a beautiful reminder of your love, your sacrifice, your grace, your gift for me, for us, for all mankind. 

Luke 2: 6-12

While they were there, the time came for the baby to be born,  and she gave birth to her firstborn, a son. She wrapped him in cloths and placed him in a manger, because there was no guest room available for them.
And there were shepherds living out in the fields nearby, keeping watch over their flocks at night.  An angel of the Lord appeared to them, and the glory of the Lord shone around them, and they were terrified.  But the angel said to them, “Do not be afraid. I bring you good news that will cause great joy for all the people.  Today in the town of David a Savior has been born to you; he is the Messiah, the Lord.  This will be a sign to you: You will find a baby wrapped in cloths and lying in a manger.”