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Wednesday, July 10, 2013


In between gigs right now. Spent a few days in Italy.  Back now and planning our wine tasting event.

Just another calm before the storm, I should be preparing for the storm but I’m not sure what will happen first?!  I’m waiting for everything we set in motion to catch up.  The protocol for our Natural History Study is with the Children's Hospital at Montefiore’s, Internal Review Board. I’m waiting for word to start recruiting for the study and registry. Tick Tock.

The promotional materials for our wine event are ready to be sent out.  Just waiting for the website to be updated.  Tickets will go on sale July 16th, you will be able to purchase them through our website or by ordering them by mail. If you’re not on our mailing list sign up now, you won’t want to miss out on all the festivities.

The event is coming together very smoothly, our winery lineup is looking amazing, as usual!  This year we will have 2 breweries pouring as well.  I’m super excited about our food and music venue. The Jake Blair Band is coming back again and we’re having BBQ this year catered by Dukes BBQ pit. Think finger lickin’ good without the mess. I can’t wait!!!

Salut, Prost, Cheers... To a Cure!  Will take place August 25th 4-7:00pm at Stoller Family Vineyards (OR). We’re calling for donations for our silent auction now.  If you would like to donate to the auction, send us an email

ITALY.... Went to Naples to visit our friends at the Telethon Institute of Genetics and Medicine. TIGEM is a huge lab focused on genetic research.  They are Internationally renowned and well known for their cutting edge research.  There are two investigators there that are focused on research benefiting Sanfilippo.  Director, Andrea Ballabio is working on the trigger to tell the master gene TFEB, to tell the cells to dump their storage.  Sanfilippo is just one of the 50 lysosomal storage diseases, holding onto storage that should have been recycled.  Pharmaceutical companies: Shire and Biomarin have taken interest in Dr. Ballabio’s work and are funding this research. I have no doubt that this program will work. Tick Tock.

Getting the storage out is one thing but we also need to get the enzyme in.  Without the enzyme the body will keep creating the storage.  That’s where our second researcher Alessandro Fraldi comes in. There is a blurb on the two different programs that Alessandro is conducting for Sanfilippo A and C on our website.  We signed an NDA in-order to hear the particulars, so I’ll refer you to the website for what we can say.  I can say that this though, the science is breathtaking in it’s originality and potential benefits for the disease.  Not only will it help MPSIIIC, but it will have ramifications for other diseases with membrane bound enzymes like ours.  Here’s a link to Alessandro’s lab.
HANDS families: Raquel (Portugal), Belen (Barcelona) and Guilhain (France) met together with our friend Arleta (Poland.)  TIGEM hosted our small patient population meeting, rolling out the red carpet for us.  Alessandro’s entire lab came to meet with us as well as TIGEM’s Chief Scientific Officer, Graciana and the Director, Dr. Ballabio. It was priceless...

Whoever told me that parents shouldn’t bother the scientists- that they don’t want to talk to us... well they should be kicked.

Coincidentally Alessandro’s team had a French and Spanish speaking scientist, so Belen and Guilhain were well taken care of.  Our scientists gave us a blow by blow demonstration on how their research works and where they are in the program.  Being there and seeing these guys in their labs, knowing that this is what they do all week. The visual is immeasurable, on days like this when I feel like I’m just waiting, I can picture Alessandro’s team working for our children.  This goes both ways too. 

The scientists loved meeting with us, they took us out for a beautiful dinner where we ate our pizza on the boardwalk.  They asked us lots of questions about who we are, how we got together and what were our children like.  We left them with pictures of our kids and Raquel created an inspiring movie that she presented to them.

Right before I went to Italy, Jonah had his 6mo GI check up, we had some blood work done because his liver was pronounced.  The blood work came back with elevated enzyme levels. The results were a huge blow for Jeremy and I.  If there is one thing that Jeremy and I do not wait for... it’s signs that the disease is progressing. We took Jonah off Vyvanse, which helps control his compulsions.  We wanted to rule out the vyvanse as the reason why the liver functions were elevated.  You could tell right away that he was off it, his behavior escalated.

Jonah can’t help himself from touching or crashing into strangers on the street.  He always seems to pick out the cantankerous old men to goose too.  Whatever... mean mugs like that deserve a little butt grab now and then. 

After Jonah’s blood work I called around and talked to some parents about their kids liver enzyme levels, it’s not uncommon and most parents just watched it. Which brought me down from the cliff for a second.  I then asked one of the Mom about her son’s behavior at 5, Jonah is turning 5 at the end of the month.  She said she didn’t want to scare me but that was when her son’s behavioral issues began to escalate and the cognitive development started to slow down.  On avg. type C kids are diagnosed at 6.  When I talked to my friend about kindergarten, she told me that her son was expelled in kindergarten for his aggressiveness, meanwhile his speech, reading and writing development drastically slowed.   Like I said we’re not sitting around waiting for this to happen.  We’re doing everything humanly possible to give Jonah the tools to move forward. At this very moment he’s brilliant and that’s what we focus on.  Our scientists are working away and our parents are working hard to keep them funded. I still here the clock ticking.

I have a quick favor to ask of everyone.  If you could please click here and vote for my friend Elisabeth Linton.  Elisabeth is a Sanfilippo Mom from Canada.  She’s in a Mother of the year contest hosted by Walmart Canada.  Elisabeth’s foundation is called the Children's Sanfilippo Research Foundation aka Life for Elisa.  If Elisabeth win’s her foundation will receive $100,000!  Like JJB, CSRF is also trying to fund their Natural History Study. Sanfilippo A and B are very close to going to clinical trial for their gene therapy.  I desperately want Elisabeth to win this funding!  Not just because the funding will go towards science, but because Elisabeth truly deserves this honor.  Hopefully most of you got our email blast, but it you didn't please vote now.