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Monday, November 21, 2016

Woohoooo it's the 22nd of November, no really Woohooo!

How much time do you think you spend: thinking, reading or talking about what Donald Trump just said? It happens to me every morning and I want to kick myself when I realize that I just lost 20 minutes of the first hour of my workday.  Here I am wasting more time again aarg. Please tune everything out and help us out for a second. It will be the best 20 minutes you spent today.

It’s the 22nd, of November our Holiday Campaign: “Save me From MPSIII" has begun.

Haven’t heard of our campaign yet?  Go here. https://www.crowdrise.com/save-me-from-mpsiii

Crowdrise is a fundraising platform that JJB use’s every holiday to raise funds for our research programs. In particular we are fundraising for the last leg of research for our gene therapy program. On March 1st we owe a payment of 77,768.50 GBP.  This past October JJB and our consortium HANDS paid the first payment of 77,768.50GBP.  With that funding our scientist was able to purchase a very expensive piece of software that they will use in this machine (pictured below.)  The software will help guide the needles through little holes drilled into the skull of our children.  We are also using this funding to secure the salary of our most valued postdoc, Claire. Claire will be making the GMP vector which is the drug that will be administered into the brain.  We have practiced on mice and gotten very good distribution results in the brain.  But we want the best distribution that we can possibly get, our children only have one chance at this and it has got to be perfect.  Failure is not an option.  So we will now be testing in sheep, I’m sorry if that makes you queazy and sad, it makes me sad too and I don’t take it lightly.  But remember we’re going to be doing this same operation on Jonah and our friends’s children. If it was your child receiving this experimental drug and invasive operation wouldn’t you want to take every precaution that you could before putting your child through it?  I know it sounds horrific, but for these children the only other option is death.


Last month I went to England to meet with the lead scientist, Brian and his postdoc Claire, they took us through the lab and we got to see everything.  I try to imagine what Brian’s office looks like all the time, what the lab is like, where do our mice live.  Now I know.  We walked over to the hospital and met with the neurosurgeon that will be using the software and preforming the surgeries. Raquel, from Sanfilippo Portugal met me there.  Now that we are so close to trial, we wanted to see for ourselves where our kids would be staying, what they would be going through and who will be taking care of them.  We wanted to meet the doctors and nurses. Put yourself in our shoes, what we’re doing is terrifying, monumental and groundbreaking. Can you imagine our fear and excitement?   We talked to Claire and Brian again about our plans for administration and of course the funding and the next step… trial.



This is it.  This is what we have all been working so hard for.  I hope you can continue to help us get there. I ask those that can use a computer to set up a profile and join our crowdrise team.  Mari will be adding a step by step powerpoint on our website tomorrow. Our campaign will run from November 22nd-January 5th.  There will be several Bonus Challenges throughout the time frame.  We will keep you updated on those dates.  The first one is November 29th, #GivingTuesday, the team to raise the most money on the 29th will win $25,000.  I hope it’s us.

Please share our story with everyone, post your link everywhere, send to all your colleges, clubs, friends and family. You’ll be receiving your JJB 7th annual newsletter in the mail shortly, so don’t feel bad if you don’t use the computer or social media.  We love to receive checks in the mail.  BTW ask your HR department at work if they match donations?! We love two checks in the mail even more.

I hope my fellow Americans enjoy a wonderful Thanksgiving feast.  We sure will, Jeremy is the best cook ever. On Saturday Jonah and I will be joining 6 Sanfilippo families in Paris, for a patient population meeting!  We rented a huge house for all of our families.  I hope they have good insurance.  It’s going to be hysterical!  We will have a french translator to help us explain our research progress, otherwise it would be me, drawing pictures and playing charades. That would be funny too. We always have the best time together.  Ce Bon.
Raquel, the brain guiding machine and Dr. Kamaly

Raquel, Claire, me and Brian

Over the weekend we took Jonah and Sebastion on the Polar Express