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Thursday, March 14, 2013

Scientists, Lobbiests, Flash Mobs, Stitches, Mouse Models, Jonny Lee Miller and BUNCO

WORLD-February 13-16th

The last 3 weeks have been non-stop action.  Starting off in Florida for the Lysosomal Disease Network (LDN) symposium- a profound experience.

-Sean’s ODDT poster describing our app was a huge success.  It could have been because people found it refreshing in comparison to the scientific posters.

-Having two presentations on type C was historic.

-The word on the street is that big pharma is finally taking notice of the Ultra Rare Diseases. Albeit baby steps, but at least they’re starting to ask the right questions.

-I got to meet with the Aunts of Alejandro a 26 year old type C boy from FL .  They drove 4 hours to come and say hi and meet Alexey and Brian.  We all went out for a beautiful dinner. I really enjoy just hanging with my scientists, fellow Sanfilippo parents and enjoying each others company.

-A genetic counselor at the conference sought me out.  She said that her geneticist had sent her to the conference to learn more about the science for Sanfilippo, specifically C.  She came across our ODDT poster and saw the type C reference.  My mouth dropped and my eyes welled up when she told me that her boss had dx’d sibling’s-  a baby and her older sibling with MPSIIIC.  I’m anxiously waiting for the family to reach out. I’m sad that they haven’t called yet, but you never know where the families are at mentally and emotionally.  It’s a hard blow to hear that not only one child has a fatal disease but both kids are dying.

-I had a great meeting with the potential PI for our NHS and JJB's adviser's.  I can’t wait to finally cross that project off my to do list.

-I’m very optimistic about the direction our science is going. We made an exciting connection at the conference, that has the potential to change everything. Sorry I have to be vague.

-I met a ton of new advocates, ready to dive in and fight for cures.  There were many more advocates in attendance then last year. We’re growing in numbers.

All in all I went home filled with optimism and ready to get back to work!


RDLA-LOBBY DAY-February 26th-28th

I wasn’t going to go to the Lobby Day this year, too much going on at home. But I had to cancel our WALK which would have taken place this past Sunday.  Working with NYC Parks and Recreation is as stressful as trying to put together a NHS.  So I dropped that venue, which left a window of opportunity to go to DC and tell my MOC’s (members of congress) whats what.

I met up with 140 other advocates (double that of last year) in D.C..  Our mission was to represent rare diseases and tell our members of congress to stop secrestration. We gave it our best shot, but it still went into effect. 3.6 Billion Dollars will be cut from programs like the FDA and NIH.  I have yet to receive any funding from the NIH and it’s not from a lack of trying. I’m thinking I need to focus my gold digging efforts elsewhere.

While in D.C. I was lucky enough to have a brilliant journalist (Lisa Jarvis) from Chemical and Engineering news. shadow me.
Lisa is writing a series of articles on advocates and the roles we play in R&D. Hopefully she’ll make me sound intelligent, can’t believe I’m going to be quoted in the C&EN journal. Ha!

Thanks to the RDLA for organizing a historical event for the patient advocates on Capital Hill.  And a  delicious thanks to our friends at the Darlington House who kept us well fed and entertained.



Our Rare Disease Day Flash Mob was soooo cool, well the security guards outside the Atlantic Avenue commons didn’t care for it so much... Whatever.  The mobbers had a blast and we made a big purple splash on unsuspecting passer buyers.  The mobbers were so ramped up to do it again that we decided to run down 5th Ave (Brooklyn) to our crowded Sunday Farmers Market that’s adjacent to the newly redesigned playground.

Just before we busted out our FM on unsuspecting tot’s and their parents, Jonah fell.  He took a nasty cut to his forehead.  When I rushed over to him I could see the bone. ugh We ran to the ER, just a few blocks away and Jonah received 15 stitches. Jonah is healing nicely.  I’ll spare you all from the gory details. 

Our Flash Mob crew is demanding a re-do.  Now that everyone is over their first time gitters and has worked so hard at learning a hip hop dance, we all want to do it again and again!

Thank You Amanda for teaching us all to dance and thanks to all the supporters that braved the cold and insecurities to raise awareness for Rare Diseases!


MOUSE MODEL- For MPSIIID- February 28th

Over the Holidays I sent in an application to win a mouse model.  Some people try to win cars I try to win mice. To my surprise JJB was chosen to win a Sanfilippo Type D mouse model!  The Assay Depot in collaboration with the Rare Genomics Institute offered rare disease organizations the opportunity to win free research and technologies, 19 companies donated their services totalling over $500,000.  JJB won the grand prize!
We also won services from CDD (Collaborative Drug Discovery), we will use their software to manage findings from drug screens.  I was so excited when I saw that we won I screamed and jumped up and down, as if I just saw a mouse, but more excited then freaked.

Sanfilippo D doesn’t have a mouse model, this win will go a long way to furthering the science for type D!  Our friends at Ben’s Dream had been in talks with a scientist to start this work.  Fortunately they hadn’t started the work yet; we had the opportunity to touch base about the model at WORLD. Stuart and I even ran into a scientist that was wanting the mouse ASAP.  Very Cool! We’ll all be able to work together on this, meanwhile we’ll save precious dollars that can go to other projects.  When I say this was like winning a car, I mean it.  These mice don’t come cheap!


JLM- Jonny Lee Miller- NOW

Hopefully you all know who JLM is?!  Jonny play’s Sherlock on the new hit drama ‘Elementary.’  Jonny upon learning about Jonah’s condition immediately started thinking about how it was that he could help.  Jonny is an avid runner and has ran for several causes in the past, so he offered to run the Bear Mountain Challenge in JJB’s honor. The run is this May 4th in the Catskills of NY.

I went to see Jonny on set last month, where I explained to him what it was that we needed and our mission.  He couldn’t have been more respectful, genuine and actually humbled by our experience.  We discussed the run... I tell you guys, I’m absolutely blown away by what Jonny has offered to do for us.  I’m not going to give it away until the actual press release.  I’m still in shock and I just want to see it all in writing before I start blabbing.

We haven't even announced the run and people are already donating to JJB for Jonny's run!

BUNCO for Sanfilippo- March 23rd, OR

In a few weeks Jonah will be on Spring break.  We’re heading to OR for some much needed family time.  Jonah has been saying since Christmas: “Now it’s time to go see: Grandma, Aunt Jennifer, Sydney, Elliott and Campbell?”  Today I had to take out the calendar and start marking down the days until we leave. It’s a good opportunity to teach him about the days of the week and month.

While in OR, we’ll be attending JJB’s 3rd annual BUNCO party, March 23rd.  A sweet fundraisers with lots of delicious pastries (by Ila) and gambling, ha. Not really for $$ the $25 donation goes to JJB, but winners do get a door prize and knowing my Mom you’ll be happy.  Good times, with good friends, can’t wait to catch up!  Check out our new website for details!

But BUNCO players in the mean time...

Catch up on Elementary, you can watch the previously aired shows on, to know Sherlock (Jonny) is to love him.  He is by far and away the best actor I have ever had the pleasure of watching and meeting.  The show airs on Thursday on CBS at 10/9c. You’ll want to know all about ‘Elementary’ when I share the campaign that Jonny is launching for us.
Our poster

Sean showing people how the ODDT app works.

Alexey Pshezhetsky and Stuart Sideman
Flash Mob
Lobby Day, Capital Hill with fellow advocates and Congressman Timothy Bishop
Me and Jonny Lee Miller on set of Elementary.