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Wednesday, June 25, 2014

Parent Power

Parent Power.I like that tag line- much better then fighter mom. (Stole it from 60minutes Australia.)

It’s overwhelming when you  sit at home working at your kitchen table, no office filled with employees, no other Sanfilippo parents in your neighborhood working along side of you. The task of pulling all your resources together: scanning, sending, signing, fundraising, networking, lobbying, reading reading reading, and writing writing writing- making choices that will affect generations to come and WAITING.  It’s all so formidable.  Then your “new” best friend in Portugal instant messages: “can you skype?” Breathe, I’m not alone.

I just watched 60 minutes Australia...  A sister sanfilippo family, The Donnell’s- parents of Isla and Jude tell their story along side another young family in South Carolina.  Iv'e talked about these families before, I refer to the Donnell’s and O’Neill’s as the next generation of Sanfilippo families to drive the science. They refer to me as J WOW. Pretty funny as for most of the time I feel like J LOW.

Here is the 60 Minute episode, inspired by the Donnell’s.  http://lnkd.in/b6n9ieU

With the viral video, that the O’Neills created, I get congratulation messages all the time... I have to repeat over and over NO, the gene therapy treatment that the Donnell and O’Neill’s are talking about is NOT for type C.  It is for type A and B. The gene therapy for type C, is still in the pre-clinical stages, HANDS (JJB’s consortium of sister foundations) has funded $400,000 dollars so far for our gene therapy and we still have another 1.5 million to fund over the next couple of years before we can be “approved” for trial.  Don’t worry we’ll get there too.

It’s impossible to control what the media says, trying to describe to the audience, whom has never even heard of Sanfilippo, what Sanfilippo is, is just too hard.  I had a little chuckle to myself when listening to our most senior MPS scientists, Dr. Hopwood try to describe the disease. http://youtu.be/V8v-U1-SqR8 

Compare it to the radio interview that Kristine and I did last week. http://fresh1027.cbslocal.com/2014/06/15/spotlighting-sanfilippo-syndrome-with-cbs-2s-kristine-johnson/  Pretty funny.

Last Tuesday, Jonny Lee Miller and Kristine Johnson hosted our coming out reception in NYC. It was held at the HEATH inside the McKittrick Hotel, home of “Sleep no More.” Our first Annual Rare Occurrence Reception was freaking AWESOME. Pulling it together in six weeks was not an easy task, but we did a pretty damn good job- with the help of the team at First Protocol, The HEATH staff, Mari and our new friends at the Arte Institute... Some said I couldn’t be done in 6 weeks. (you know who you are.)  I planned my wedding in less time.

The point of the reception was to introduce our cause and raise awareness about Sanfilippo. We did just that with this lovely video shot (by Jeremy) edited by CBS.
http://youtu.be/V8v-U1-SqR8

I set up a photo exhibit with the now famous pictures that Dodi Holm of Rustic Pear Photography shot of Jonah over the course of the last three years. When I saw the venue for the first time it reminded me of a saloon you would find in Southern Oregon. Open rafters, stuffed wolves, delicate floral vintage wallpaper, not pretentious but edgy.  Reminded me of home, it reminded me of the pictures Dodi took of Jonah, out in the woods, running through fields, wadding through rivers.  Which in turn reminded me of this poem: “If I Had my Child to Raise Over Again” by Diana Loomans

If I had my child to raise all over again,
I’d build self-esteem first, and the house later.

I’d finger paint more, and point the finger less.

I would do less correcting and more connecting.

I’d take my eyes off my watch, and watch with my eyes.

I would care to know less and know to care more.

I’d take more hikes and fly more kites.

I’d stop playing serious, and seriously play.

I would run through more fields and gaze at more stars,

I’d do more hugging and less tugging.

I’d see the oak tree in the acorn more often,

I would be firm less often, and affirm much more.

I’d model less about the love of power,
And more about the power of love.

I paired each line of the poem with a picture of Jonah. I dedicated the photo display and poem to the families that received very late diagnosis, not knowing that their child was dying, assuming they were just a part of the Autism spectrum or just born with brain damage.

The line and corresponding picture that stays with me is:  “I would care to know less and know to care more.”  Jonah looking into the empty nest. When my nest is empty will it be because Jonah got his "cure" or because we didn’t make it in time and he died?  I'd care to know less and know to care more.


Jonny and Kristine thanked the room that was filled with several of JJB’s supporters that had been by our side since ground zero, a handful of our clinicians and scientists.  The rest of our guests were new to the cause.   They set the stage for the nights events.

As usual I didn’t write down what I was going to say until the morning of the event. I was super nervous when the room began to fill up and Maureen grabbed me and said: “show time.” Kristine and Jonny spoke first about how they came to know of the cause and what it meant to them.  Jonny floored me with his kind words, he said: “It’s not everyday that you meet a person that changes the course of your life.”   All my insecurities melted away, Jonny has a remarkable way of calming me down, it’s as if he’s my coach and for whatever reason I believe what he says.

I got up on stage then locked eyes with our geneticist that changed the course of our lives forever.  Dr. Karen David, had the awful job of telling Jeremy and I that Jonah had Mucopolysaccharidosis.  I was so happy to see her, my speech just came together. I ignored everyone else in the room and spoke just to Dr. David, the person that gave us the worst news a parent could hear, but turned it around by saying that: “there was hope, treatments unimaginable five years ago are a reality today.”  Iv’e said this many times in interviews, well basically to anyone who asks how we got here.  But this was the first time I got to say it face to face to Dr. David, in a crowded room of spectators.  It was a personal moment that needed to be shared out loud. 

Then we partied, everyone had a great time.  I didn’t have a moment to myself, everyone came up and talked to me, they were so moved, they asked questions about the disease, congratulated us on how far we’d come and thanked us for educating them.   I was really very touched by the compassion and sincerity. One of our sponsors of the event is putting his money where his mouth is and is hosting a fundraiser for us this September.  He’s donating $20,000 to be matched at the event!

The coolest attraction at the event was a live painting by artist Joana Rico.  Joana explains her work:    The live painting will be from a series that explores the first immortal human cell line, HeLa. This cell line comes from an African-American woman named Henrietta Lacks who passed away in 1950 from a cancer. Her story didn't end like expected, because a biopsy of her tumor was discovered to be immortal. Her cells continued (and continue) to replicate instead of dying after a few weeks. The impact of this cell line in modern medicine is hard to measure as it transformed our ability to investigate basic biology and develop modern therapies. HeLa cells have been responsible for the development of the vaccines for polio and HPV, in vitro fertilization, cellular imaging techniques and now, they are being used to find a cure for the Sanfilippo syndrome. The story of Henrietta, the individual behind a revolution in medicine, also helps us remember that advances in medicine come not only from scientists and doctors but also from the patients and their families - like Jonah.
I explore microscopic imagery of these cells through painting. The lines formed by the cells’ skeletons tell of their decisions and intentions. Focusing on these lines allows me to consider their identity - not of each individual cell or of Henrietta, but of any living whole - a varied but persisting form, that continuously searches on the edge of non-existence.


In a tweet Joana wrote: “Henrietta Lacks gifted us 60 years of insight... What will Jonah gift us?”  Frankly... I’d care to know less and know to care more.  You can follow Joana She's posting a slide show of the event.

Here is a link to a few pictures from the event. http://bitly.com/


The next day Jeremy and I attended Jonah’s “Stepping up Ceremony”  I bawled like a baby, it was the cutest performance I had ever seen.  We were delighted with Jonah, he kept up with his peers, I couldn’t have been prouder. We beamed and grinned from ear to ear, pushing away the dark clouds that hang over our heads.

Now you’d think that Jonny would take a little break and relax for the rest of his hiatus.  But no, not one to sit still, when there is work to be done.  Jonny has made up is own ultra-marathon and recruited a couple of buddies to run 50 miles through the streets of NYC.  He’s doing it July 5th and is hoping for sponsorship (I am too.)  https://www.crowdrise.com/jonnyleemiller50miler

Check it out.   There’s still more to come.  I didn’t even scratch the surface with this blog.