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Monday, June 20, 2011

On the road again... next stop Northampton

My first blog....On the road again.

Jeremy and I are heading to a "Sanfilippo Workshop" in Northampton. The workshop is being hosted by the UK MPS society, it's goal is to help bridge the gap between: pharma, research and Sanfilippo advocate groups. We're very excited to be a part of this meeting for several reasons. They are as follows:

Our researchers Bigger and Pshezhetsky will be in attendance. Pshezhetsky is working on a mutation specific therapy for Jonah and friends. JJB hopes to fund Bigger on a viral vector ASAP. (I just can't get enough of our researchers. I wish I could sit in their office's and work, so I could watch the lab techs work on a cure for our kids.)

Brett Crawford from Zacharon will be attending. The Sanfilippo community is very anxious to learn more about the potential trial that Zacharon is working on in partnership with Pfizer. Pfizer just gave Zacharon a $210 million dollar contract to help take their "small molecule" to clinical trial. At this point this potential treatment is Jonah's closest hope.

We will have the chance to see our European friends in person and meet new friends.

There will be several researchers in attendance that I have not had the pleasure of meeting yet. Hopefully we will hear about more treatments in the pipeline.

After this meeting Jeremy and I hope to settle down a bit. Our group has accomplished an incredible feet over the last year. Our agenda is set and we have a clear picture of what we need to do to accomplish our goals. The science is here and the time is now.

We have a team working on specific "novel" approaches. Our team so far is made up of brilliant and highly regarded researchers. Pshezhetsky (Montreal) is working on our mouse model and a chaperone therapy for missense mutations. Pshezhetsky is also collaborating with a group focused on our groups splice site mutations. Bigger (Manchester) will be working on a type C viral vector in collaboration with a TBA vector company, Grinberg and Vilageliu (Barcelona) have several novel approaches ranging from mutation specific therapies to gene therapy. JJB is also in the process of choosing the "best fit" for our Natural History Study. Our researchers have all agreed to collaborate with each other, when in doubt they can call on one another to bounce an idea off of .

With the guidance of our peer review board, JJB's parents have chosen these researchers based on their reputation and mutation specific approaches. As parents of terminally ill children we're all well aware of the lengthy time frame involved and risk in funding "novel" approaches. As parents we take comfort in the closer "small molecule" therapies of: Zacharon, genistein and TFEB. In the back of our minds we know that our time consuming projects might not come in time for our kids, but will benefit the next generation of Sanfilippo kids. With that said we will continue to fight the good fight and do everything within our power to save our babies now.

Now that we have set the stage and created the contacts to find our cure it's time to focus on fundraising and put the breaks on all the traveling. Our group has come up with a tentative budget (we're always on the look out for more science.) At the moment we're looking at raising 1.5 million over the course of four years. That sounds easy enough!

JJB works hand in hand with several other type C foundations:

Sanfilippo Barcelona: Pol's parents have been working their butt's off in Spain building their relationship with the likes of super hero football star Andres Iniesta. You will be hearing a lot about the European soccer players, so please brush up on your Soccer.

Sanfilippo Sud: Is the type C French branch of Sanfilippo Alliance. Our friends Guillhain and Francine are parents to Elouan and Laura. I talk about them all the time. You will see a lot of them in our upcoming documentary.

JLK Sanfilippo Foundation: JLK stand's for the Burkes three gorgeous girls: Jillian, Lindsey and Kelsey. Nancy Burke was the first type C mom I encountered. This family means the world to me outside of Jonah they are my ultimate inspiration.

Kinder En Enkasen Foundation: This is a foundation from the Netherlands that is ran by a group of type C parents. There is a high rate of type C incidence in the Netherlands. We have been in collaboration with this group and hope to meet soon in person.

JJB works closely with several other type C families that don't have official foundations, the: Marques-Vincineti, Torres, Burilson, Omeroid and Knauss families have all been key players in our mission. The Marques-Vincineti, Burlison's and Omeroid's as well as the Burkes are directors on JJB's board.

JJB's Peer Review Board doctors: Wendy Chung (Columbia-Presbyterian), Myriam Banekazemi (Columbia-Presbyterian), Gregory Pastores (NYU) and Robert Steinerr (OHSU).

This summer we have several projects that JJB is working on. Fundraising being priority # 1, now that we have the science we need the continued funding.

You can purchase tickets to our 2nd annual wine tasting event now Raise a glass a child. find the details on our website or!/event.php?eid=106519319429530

Shop on line with fundraising vendors: Lia Sophia (jewelry) and Scentsy (candles).

Or participate in a Bunco party or Applebees brunch.

Stay tuned to the Andrea Iniesta projects.

If your looking for something to do in Portugal, the Marques-Vincineti family has a walk planned for July 2nd.!/event.php?eid=233440900004785

We're also participating in Macy's shop for a cause. Details to come, in the mean time mark your calendars to to your back to school shopping at Macy's on August 27th.

Our friends at Team Sanfilippo are competing for a grant worth $250,000 with Vivint. Please see link on how you can vote.

Our good friend, Mari has joined JJB. Mari-Elena will be focusing her attention on social networking. Watch for Mari's email's and be sure to sign on to JJB's mailing list.

In other news. Jonah fell at the aquarium a few weeks ago and he got his first set of stitches on his eyebrow. Jonah got the stitches out last Monday and the wound is healing nicely.

We're in collaboration with Geneticalens for our second documentary. Our first documentary by Maynard et al will be out sometime in July.

The day after Jonah's booboo we had an appointment with his doctors (a follow up on his general health.) All things considered, Jonah is in good shape. The doctors appointment also gave us the chance to speak with one of our advisers. S
ince our patient population meeting Dr. Banikazemi had been busy advocating for our group. She touched base with: Pfizer, Genzyme and Mayo. Without going into details, recently there has been a lot of positive movement in the world of Orphan Drugs. Jonah also gave his blood to Mayo to be tested against the US's first asay for Sanfilippo's newborn screening test. I can't speak for Jonah, but I was honored to be a part of our first newborn screening test. For more information on our newborn screening test you can check out the press release on Mayo's website. (I think Mayo is still looking for more blood donations.)

Information overload? I feel your pain. Thanks for listening.

FYI the pictures are compliments of Dodi at Rustic Pear Photography.

Kind Regards,