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Wednesday, April 9, 2014

exposure vs exposed

Exposure... exposed.

Our families are letting the press into our homes our lives, we’re exposing our beautiful children, we do this in hopes of convincing the world that we need treatments. As parents we struggle with the exposure.  Do we really want the world to know that our children are different?  What if someone shows our child the interviews of his/her parents crying on t.v.?  What if another child asks our children whats wrong with them? What kind of impact will it have on our healthy children? 

We have thought long and hard about these questions. I realize that if we’re going to have a chance in saving our children’s lives, we have to let people know whats going on.

For me admitting to strangers, that my son is dying and I need your help, is excruciating. I get by, by telling myself that running a foundation and a start-up is just my job.  It’s a good job, I’m helping to save lives.

Recently our community has enlisted the help of actors and athletes to help convey our message.  I have yet to share the videos of Jonny Lee Miller’s plea to congressional legislators and their staffers to support our rare disease initiatives.  Until now.

When Jonny looked over the list of panel speakers for the rare disease caucus briefing.
He asked me: "What do you think my role is amongst the scientists, parent advocates, pharma, FDA and NIH employees?"

I told him:  "Your role is to get our legislators to show up and listen."

Jonny did just that, his presence packed the room. Jonny’s speech echoed exactly what our families and industry have been saying.  His words come from a dad, not an actor, but from a dad of a healthy child, whom has the depth and compassion to place himself in our shoes.

Here’s Jonny’s speech.
Watch it and think about what would you do if you were in our shoes.

I talk a lot about JJB’s sister organizations: Sanfilippo Sud (France), Sanfilippo Barcelona (Spain) and the JLK-Sanfilippo Research Foundation (MA).  Sanfilippo Barcelona has a special relationship with Xavi Hernandez and Andrea Iniesta, these men are world famous football players of FC Barcelona. 

Xavi recently joined forces with the financial institution La Cacia, La Cacia has created an ad campaign featuring Xavi Hernandez, Belen her son Pol, Raquel her daughter Joana and Janette with her son Inaki.  JJB sponsored our primary investigator, Dr. Brian Bigger to talk to the science in the ad campaign. :)  For me the ad is personal, watching Brian interact with Joana is priceless.  It’s actually rare for a scientists to meet a child that their life work is based on.

The ad is beautiful, our families are compelling, dynamic and raw.  The ad will run nationally in Spain, it’s part of a platform designed by La Cacia.   In every bank branch customers will have the opportunity to make “micro-donations.”  Here’s the ad. FYI, once Xavi’s commercial runs the clip ends for a moment, then the infomercial starts.
I hope all of you will root for Spain for the world cup!

Eliza’s parents found the expertise to help them make an awareness campaign go viral.     It’s an unnerving guilt I have watching this family make a huge impact in the rare disease community, on one hand you can’t stand the idea of another family living this horrific journey.  On the other you can’t help but to feel a bit of relief in having another family join in on the fight.

Awareness can be as impactful as funding.  We need to find the other children and educate clinicians on the signs of Sanfilippo.  An early diagnosis gives a preemptive strike against the deterioration of skills.  This is why our families put our lives out there, we’re compelled to not only save our children but to help diagnose and then treat the next generation.

MPS awareness day is May 15th.  Jonah’s school has agreed to send a letter home with all their students, asking them to wear purple in honor of MPS awareness day and to join us at the park on May, 4th.  This all started with Dr. Cao and an early diagnosis,  I hope all of NY will join South Slope Pediatrics walk/run and support Dr. Cao’s mission to help us fund a cure and raise awareness.

Register at:

Or sponsor a runner at:

Tuesday, April 1, 2014

Frantic February leads into March Madness

April showers bring May flowers.  I’m hoping that saying holds true.  Who’s been paying attention!?  Did you notice that February was completely frantic for us?!  Seriously... I nearly lost what is left of my mind. March has not been much better, complete Madness!  I’m letting it all go in April. Just let it rain, I’m going to stay in, maybe it’s time to get a t.v. and just veg. Wouldn’t that be lovely!

My last post was for Ben.  You know his parents have not stopped working towards a cure. I want you to all watch this RAC meeting.
Many of you might be board to tears with all the science conversation, for those of you skip to the end and watch the parent testimony and you'll be moved to tears. 

February was frantic, horrific and progressive. This winter we laid to rest more children then I have the strength to count.  At the same time the seeds that our families planted years ago have started to bud.  In another year we will have flowers, after that they will bare fruit.

February’s frenzy started with our trip to OR.  I dropped Jonah off with his Aunt and Grandma, then flew to SD for the WORLD conference of lysosomal storage disease. The conference is hosted by the LDN (Lysosomal Disease Network)  The LDN is the outfit that JJB has partnered with to help us with our NHS, they will help us in trade, giving us access to their experience and people. The LDN is a network of institutions that have a focus on one or more of the LSD’s. The University of Minnesota is one of those institutions, the folks at Minnesota conducted the NHS for type A and B, this was sponsored by the large drug company Shire.  Shire has taken a bad wrap lately for not opening up their data from the NHS of A and B to other MPSIII academics focused on treating Sanfilippo.  Yet, Shire has given JJB their protocol from their NHS.  Shire understands that having C and D’s NHS done in the exact same way as theirs, will give our community a good comparison across the 4 subtypes. Anyhow ‘we’ JJB’s NHS PI and the LDN had an intense meeting about our partnership.  Which put some fear in me, this is a really big deal.  Now if it would just start already!  Waiting on committee hearings, at this rate by the time we start we’ll have a treatment.
Landed in OR. 

All of our consortium's scientists attended WORLD, we had plenty of opportunity to sit down and update each other on where we’re at and what’s the next plan of action.  Sean and I presented our posters and made even more great contacts. The conference was very productive, one meeting/session after another.
World 2014: Dr. Fu, Dr. McCarty, The O'neill's, Jill and Dr. Pshezhetsky
I met another newly dx’d MPSIIIA family at the conference.  It was unnerving to watch them, they reminded me of when Jeremy and I got the news and showed up at the same conference three years ago.  I knew what they were going through and it broke my heart.  Glen asked me if I had a timeline in which I thought we had to get Jonah something?  I told him I stopped thinking about that timeline.  It’s taken me almost four years to get to this place but I think I’m finally here.   I have not accepted Jonah's fate, Ive just had time to absorb it.

Jeremy and I have been watching and waiting for Jonah to start changing, it’s started, the other shoe has dropped.  And you know what?!  Jonah is still Jonah, the world has not come to an end. Our sun still rises and sets with him.  Jonah is remarkable.

Monster truck show!
Once back in OR, Jonah and I enjoyed a bit of down time with family, he got to see his cousins, whom he worships, we took in a monster truck show, and attended my grandma Alice’s services. Friends and family also hosted two fundraisers for JJB during our trip back home.... 
When I said I enjoyed some down time I lied, there was no down time.
Jonah and his cousins, throwing sticks in the storm drain.
I can’t thank my Mom, Ila, Allison and Steve enough for pulling together fun and successful fundraisers on such short notice.  We had a really lovely time hanging out with old friends and making new ones, the proceeds were much appreciated too!

Bunco Party with several of my sorority sisters. :)
Once we arrived back in NY, after an uneventful red-eye, Jonah and I literally took a nap and got up for an interview.

Kristine Johnson, our NYC CBS news anchor, stopped by for a quick chat about our upcoming trip to DC with Jonny.  Kristine did a wonderful job putting together the piece for us.  I understand how hard it is to convey the science and the need for funding in a short amount of time, but Kristine pulled it all together brilliantly. 

Jeremy walked in at the same time as Kristine.  He hardly ever get’s home before midnight and here he was just in time for the interview. It was really cool, Jonah hadn't seen his Dad in two weeks.  Needless to say Jonah was a little animated for the interview.
Jonah and CBS anchor Kristine Johnson, NYC

I think it was 2 days after the interview that I left for DC I just transferred some stuff from our big suitcase and threw it in a duffel bag. I ran and picked up my suit from the cleaners and wrote my speech for the rare disease caucus.  Packed Jonah’s school lunch and wrote a note for his sitter.  The next morning Jonny and I caught a 7:00 am train and we were off to the Capital! 

F.Y.I. Jonny Lee Miller joined myself and associates on a panel to speak to our countries legislators.  We gave speeches on the importance of supporting legislation that would help spur the development of treatments for rare diseases.  Jonny did an exceptionally awesome job!!!  Half the room came to listen to Jonny, It’s not everyday that a celebrity comes to Capital Hill. Wait until you see video of our speeches.

I’m going to save the blow by blow Capital Hill experience for next weeks blog.   But here’s the interview from the DC's local CBS news cast.
RDLA Caucus Briefing 2/27/14

In the mean time, check out the extra special fundraising event that Dr. Cao (Jonah’s pediatrician) is hosting for JJB. It’s extra special because Dr. Cao is the reason we received such an early diagnosis. Find out more here and pass along.
Jonah and Dr. Cao