Saying Goodbye

We headed to DC over the weekend, we went for Aiden's Memorial Service at Ft. Belvoir. I have hesitated a lot over blogging about Aiden, his last days, and his service. They are not my stories or memories to tell. I want to respect his family and I am scared that I will say or do something that would hurt or offend them, especially during this difficult time.

I am very glad that we were able to attend the service. It was nice to be there in person, I've communicated a few times via phone/email/text with Aiden's mom but it means so much more to be there and share a hug. There were a couple of other Sanfilippo families there and it is always nice to spend time with people who understand Sanfilippo syndrome, I think a good word to describe it would be fellowship.

Unfortunately we've been to a few funerals and memorial services. Military funerals always make me sick, literally when they do the roll call I feel like I'm being punched in the stomach, I have to force myself to keep breathing. Funerals for older people are easier. I remember my grandfather's funeral fondly (Mom I hope I'm not upsetting you by saying this). I got to see all my aunts and uncles and cousins. The sun was shinning and it was a beautiful day. He did pass too soon but he lived a long, full, life. I remember there being tons of people there. Funerals for children are so sad. Life cut too short, ending too soon. The truth is that we think about what it will be like when it's time for us to plan a similar ceremony for Olivia. Depressing but true. It was a touching service with a slide show of pictures of Aiden. We are so glad we were able to attend.

Aiden's Prayer

We little knew that morning that
God was going to call your name.
In life we loved you dearly,
In death we do the same.

It broke our hearts to lose you,
You did not go alone;
For part of us went with you,
The day God called you home.

You left us peaceful memories,
Your love it still our guide;
And though we cannot see you,
You are always at our side.

Our family chain is broken
And nothing seems the same,
But as God calls us one by one,
The chain will link again.

Christmas Traditions All Year Long

There's a little Christmas tradition we do around here that I just have to share. Yes, I know it's almost February.

After the Christmas decorations are taken down the Christmas Cards go into a basket on our kitchen table. Each night when we pray before dinner we include the Christmas card sender in our prayers. I love that we get a chance to look at the card again. People spend so much time choosing and sending Christmas cards, I like that I'm able to really give each card the time it deserves away from the craziness of the holidays! Over dinner Mike and I share information with each other about the sender. I remind him of people's names and the ages of their kids, he fills me in on where all his friends are. Even Peter and Olivia get involved as we pass the card around. Olivia likes the ones with pictures and Peter's favorites are the ones where people include pictures of their pets. This year we're trying to follow up that week with the person or family who sent the card.

Voting for the Pepsi Refresh Grant, What will the Money do?

A friend recently shared this explanation of what the money will be used for should Team Sanfilippo win the Pepsi refresh Grant. There are just a few voting days left, please take a few seconds (literally that's all it takes) and vote!

Gene Therapy in Sanfilippo
by Shannon Moyer McNeil

I know many of you have asked what gene therapy is and how it relates to Sanfilippo. Our friends at Ben's Dream wrote up this explanation and I thought it was perfect. Hopefully this can answer your questions and show just how vital it is that we fund Dr. Fu's research.



Please consider becoming a fan of "Ben's Dream". It is a fantastic non-profit organization, dedicated to finding a cure for Sanfilippo.



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The basic principle of gene therapy is to introduce a corrected gene to the body so it is taken up & begins to work properly. In the case of Sanfilippo Syndrome the gene that is involved in specific enzyme production for each type (A, B, etc.) is damaged. The corrected gene is put into a “vector”, or harmless virus, which is introduced to the body. This allows the gene to get into the cells where it can begin to function & produce the missing or broken enzyme. Unlike ERT (enzyme replacement) & drug therapy which requires lifelong dosing, gene therapy is done once – if successful the body takes over & reproduces the corrected gene.



Dr. Fu tested her gene therapy on Sanfilippo Type B mice using a single IV injection. Her research is so significant because the AAV9 vector she used passes through the Blood Brain Barrier & the corrected gene is widely dispersed throughout the entire body. Dr. Fu was not only able to extend the lifespan of the Type B mouse colony, but more importantly showed clearance of the storage caused by Sanfilippo & improvement of cognitive & motor functions.



Based on her results the next step is human clinical trials. It will take $1,200,000 to do the necessary toxicology, trial design, vector production & FDA submission to get there. Ben’s Dream – the Sanfilippo Research Foundation - has already granted Dr. Fu $200.000 to start the process. If won, the Pepsi Refresh grant will provide another $250,000 toward that goal – focused on vector testing & production.



Dr. Fu believes that she can apply the same technique to Type A. A Life for Elisa – the Sanfilippo Children’s Research Foundation - has granted $160,000 to replicate her Type B results on Type A. This money is outside of the dollars needed to bring Dr. Fu's original research to human clinical trial.



Even with the Pepsi Refresh grant we still need $750,000 to get Type B to clinical trial. If we are unsuccessful, it will not be possible to advance A or any other type beyond mouse research. We need to work together to bring Dr. Fu's original research to human clinical trial as soon as possible.



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The Great Toy Purge

I am sick of toys! I would so much rather the kids have 3-5 toys that they really enjoy playing with than rooms full of toys that go unused. The toys have invaded every room of our home despite my constant attempts to stop their random migration throughout the house. The kids each have their own rooms full of toys, there are toys in our bonus room (which has multiple functions--family room, office, play room), they have toys in the kitchen, toys in our bedroom, toys in our bathroom, toys in the living room. I can't handle it anymore. I've begun a major toy purge. I was motivated, the time was right, we were on the road to getting rid of some toys....and then I ran into a giant road block, Sanfilippo syndrome.

I read something the other day explaining Sanfilippo syndrome as childhood Alzheimer's. I can relate to that description. I've never really gotten rid of any of Olivia's toys, at first Olivia outgrew them and then I passed them along to Peter. Then Peter outgrew them and I passed them back to Olivia. Just imagine that for a moment, and allow me to put that into context. Olivia is almost 3 years older than Peter. These are her toddler toys, things she played with when she was 2 and 3. Peter played with those same toys but has since outgrown them, they don't interest him anymore. Olivia's cognitive abilities declined to the point that as a 4 and a half year old she isn't able to play with toys that are age appropriate for a 2 year old. So now I'm stuck at this Sanfilippo syndrome road block. Do I get rid of these toys? Do I hang onto them hoping that one day she'll be able to play with them again? I have such happy memories of Olivia (and Peter) playing with these toys, things were so much simpler then, we didn't know about Sanfilippo syndrome. Our little girl was just a beautiful, healthy, happy little girl instead of a beautiful, happy little girl with a devastating medical condition.

Please vote or a cure for Sanfilippo syndrome using the link above. Share it with your friends! Every vote counts!