Just say No!

The prologue: 
3.) Crowdrise: Crowdrise is a charity fundraising site.  From now until December 31st, they are giving out several cash prizes.  December 16th, is a special contest day, the charity that receives the MOST donations of any denomination will receive $10,000!  The catch do not donate until 2:00pm ET on the 16th, that’s when the contest starts. That’s 11:00am on the West Coast and 7:00pm for most of Europe. You can make your donation(s) from the 16th-23rd.  If you’re reading this on the 16th after 2:00pm ET, go here now and donate ANY amount! Please. :)
http://bit.ly/jjbnycure
Do I sound bossy?  If so it's just Jonah rubbing off on me.


The Blog:

Just say No!  My new motto and let me tell you saying NO is empowering!  Say NO to Jonah's I-pad say and just say NO to running myself ragged.
  
Every Monday I wake up ready to storm the castle. By Wednesday my plate fill’s up with tasks that weren’t on my current week to-do list.   By Friday I’m close to a nervous breakdown.

Over the weekend I bang out the items that I started the week out with.  Jeremy takes Jonah on all day outings so I can clear my plate, just to start over again on Monday.  This is no way to live.  I tell myself everyday it’s going to get better.  But the reality is...  it’s only going to get worse, by that I mostly mean busier. Jonah’s progression is a different kind of busy. :(

Jonah has been having a really hard time at school.  Throwing 20 minute temper-tantrums, hiding under the desk, foaming at the mouth. When he’s not loosing it, he’s playing class clown, tickling his friends, making jokes, farting and laughing. Disrupting everyone else.

We’ve once again been thrown into panic mode. At Jonah’s recent psychiatric appointment, I let him bring the I pad. He watched it while the doctor and I talked.  I told the doctor how awful the I pad was, for all of us.  It’s a double edged sword, great for when I need to make an important phone call or respond to an email.  Then when I’m ready to play with him, I can’t get him to turn it off.   The doctor, point blank said: “Get rid of it.”  He went on to say- that even for a typical child, the electronics are over stimulating.  The electronics cause a child to loose their focus, their attention span goes out the window.  Everything else just seems boring compared to the Pad. So I devised a plan to get rid of the it.

On the train ride home, I let Jonah watch the I pad for the last time.  When we got to our stop and Jonah rushed out the door, the I-Pad "accidentally on purpose" got left on the train (I snuck it in my backpack while he wasn’t looking.)  You should have seen the look on his face, when he discovered that the I Pad was not in my backpack.  It was as if everything that he knew and loved vanished from his life.  We had to call the police and ask them to search every F train (I called Jeremy.)  Jonah waited by the door for a few hours hoping that the police would come with his Pad.  The police i.e. Jeremy finally called, they looked and looked but didn’t find it. 

Jonah is still in morning, but it’s really not that bad.  He tells me once or twice a day that he wants the police to catch the bad guy that took his I pad and throw him in jail.  The next day at pickup, his teachers eyes were as big as saucers, she said that Jonah had had a great day! No temper-tantrums and almost perfect focus.  FYI we also up’d his dosage of Vyvanse.  At home the temper-tantrums have gone from a raging boil to a little simmer.  I'm so so happy, knock on wood he's stabilized.

Our gene therapy trial is not far off now.  We’re moving into the last stage of testing, we will be looking at dosage and toxicology this Winter.  For the squeamish I won’t describe what that entails.  JJB and our HANDS consortium will need to raise an estimated $500,000 over the next year, to support this last phase before trial.  We’re then hoping that we will win a grant to cover the expenses of the clinical trial.  This year three children were diagnosed: a baby, a 1 year old and a two year old. I think we will save these babies...  think on that. Profound isn't it.

So how are we going to raise this $500,000?!  Hmm, well I hope that JJB can raise $300,000 this coming year and hopefully our 4 other HANDS foundations can raise the other $300,000. Sounds doable right!  I have faith that our supporters will help us make it happen, you all haven’t let us down yet. Now we’re in the home stretch! 

Right now, JJB is focusing on a few online contests and we’re building our virtual stores.    We need everyone to help in getting the word out.


Here's a list, get involved.  Cut & Paste, share with your people.

1.) Amazon Smile: Instead of using Amazon, use Amazon Smile, it’s the same thing. Go here /https://org.amazon.com/ and select Jonah’s Just Begun.  Every time you shop, JJB receives a small portion of the sales. It all adds up!

2.)  eBay Giving Works: Right now until the end of the month you can opt to “follow” JJB on eBay Giving Works.  If JJB has the most “new” followers then we can win $10,000!  Follow us now ebay.to/HMUigv  

3.) Crowdrise: Crowdrise is a charity fundraising site.  From now until December 31st, they are giving out several cash prizes.  December 16th, is a special contest day, the charity that receives the MOST donations of ANY DENOMINATION will receive $10,000!  The catch do not donate until 2:00pm ET on the 16th, that’s when the contest starts. That’s 11:00am on the West Coast and 7:00pm for most of Europe. You can make your donation(s) from the 16th-23rd.  If you’re reading this and it’s past 2:00pm on the 16th-23rd, go donate any amount, please. :)  http://bit.ly/jjbnycure

4.) Etsy:  We have lots of fun gifts on our Etsy site.  All the products have been generously donated from friends and families.  We’re having a super Holiday sale now. Check it out.  These gifts keep on giving, your purchase supports life saving medical research.https://www.etsy.com/shop/JonahsJustBegun?ref=em

One day soon babies born with MPSIIIC will live, because of your generous donations made now.  Please pass these links onto all of your friends and families.

In other news.  Did you know that Jonny Lee Miller joined me and a few 100 other patient advocates in Washington D.C.?  Yup that’s right, on October 16th, Jonny joined us at the EveryLife Foundations: “Rare Voice Award” ceremony. Jonny had the special pleasure of passing out the beautiful and symbolic “Abbey” award to members of congress and families affected by rare diseases.  These individuals were honored for going above and beyond, to change legislation that focus’s on: treatments for rare diseases, newborn screening and support for families affected by a rare disease. 

Jonny was visibly moved by these individual stories and heroic efforts to make the world a better place. In turn we honored Jonny for his efforts to persuade our countries legislators to take notice of our plight and to help us in our fight.  Last February on rare disease day, Jonny spoke at a rare disease caucus briefing on the importance of supporting legislation that would lead to treatments. You can watch his passionate speech here. https://www.youtube.com/watch?v=jjW8grqwT-c&list=UUL155EYAyLhYiPe-a1PbXTwhttps://www.youtube.com/watch?v=jjW8grqwT-c&list=UUL155EYAyLhYiPe-a1PbXTw

Jonny turned to me and said: “ He didn’t feel worthy of such an honor, after hearing and seeing the accomplishments of the other award winners.”

I assured Jonny that he did.  I'm not sure if it fell on deaf ears or not.

Jonny has bent over backwards to help our cause.  It’s not easy for a working celebrity to take time off during a shooting season. Jonny has: prepared speeches, listened to our community, educated himself on rare diseases, implored congress members to help us and he has done it all out of compassion for those suffering from horrific syndromes, like Jonah’s.  His selflessness is not something that many individuals posses.  Not to mention the fact that he has ran 100’s of miles to raise funds for our research.  He has also taken time out of his busy schedule to appear on several news segments.  See for yourself, a montage of Jonny as a rare disease advocate. https://www.youtube.com/watch?v=xF5RLaFQr3Q&list=UUL155EYAyLhYiPe-a1PbXTw

Jonny had to leave right after the ceremony, he took the last train home so that he could get to work in the morning. Almost everyone at the gala came up to me to tell me how appreciative they were to have Jonny standing up for them.  They were in awe that he came and very much moved by Jonny’s obvious conviction to helping our cause. It was a really very special evening and I wish Jonny could have heard their thanks.

Happy Holidays everyone and thanks so much for all of your generous Holiday Remit donations. I breathe easier finding our P.O. BOX filled with donations. With your help we will be able to do this. #anythingispossiblebytheway

I went there today, don't hate me.

Read this with an open mind. In other words please do not take offense, my goal today is to raise awareness.

A few years ago you may remember JJB running in the ‘Chase Community Giving Challenge’.  It was a voting contest and the winner’s shared a pot of money, there were five payout levels.  JJB was in the 4th level and we won $20,000.  There were 50 foundations that won $20,000 each. JJB competed alongside the Bunny World Foundation and the Bat Conservation International Inc. etc.  The Lucky Dog Rescue Foundation won $100,000.  There were 35 competitor’s that took home $50,000 each.  Of those 35, 10 of them were animal rescue foundations.

I just can’t shake the feeling of indignity of these popularity contests.  Can I compare my son’s life to a bunny? No way. I don’t blame these foundations, the bunny’s need love too. But what does it say about our society? People blindly voting for frogs, when they could be voting for foundations, that are raising funds to create treatments for fatal pediatric diseases like Sanfilippo Syndrome.  Most people just don’t realize that there are 7,000 rare diseases, 50% of those diseases affect children and 1/3 of those children won’t live past the age of 5 years old. Furthermore there are less then 300 approved treatments for the 7,000 rare diseases.

My family is very fortunate that our friends and family get it. I personally have several good friends that are serious animal rights activists.  By knowing my family they have been educated on these stats.  They’re out there right now, rescuing animals and working hard to raise awareness about rare diseases. (thank you!)

How do we educate our entire society and make them aware that our kids are needlessly dying?  This is a question that haunts me.

 So when I saw the opportunity to work with a marketing firm that creates strategic campaigns for companies, I took it. This opportunity comes in the form of another voting contest. There are only 24 other not for profits competing in the voting contest.  We’re competing for $35,000 worth of free marketing advice and services from PM&CO.  I figured this would be a slam dunk for JJB.  But guess what?!  At this moment the prize is going to the dogs. You can vote here for Jonah’s Just Begun, scroll to the bottom to find our video. Please vote everyday until the 30th, you can vote from all your devices too.  http://bit.ly/win4jjb

Our society doesn’t put pictures of our sick children out in the media or sponsor infomercials depicting children dying of rare diseases. I agree... that would be in poor taste. But again I ask you how do we get the world to see what’s happening?


This article was in the Huffington post a few days http://m.huffpost.com/us/entry/6122368  The title: Girl, 11 Dogs Rescued From 'Horrendous Conditions' (GRAPHIC PHOTOS)  It is absolutely horrendous! 

There is a poor blind three legged dog covered in matted poop.  We don’t see a picture of the rescued little girl.  We know nothing about her. Look at the pictures of the home that the girl lived in with the 11 dogs. It will enrage you.   But what about the girl?  Do you wonder how she is?  Her identity is protected, but I bet if you saw her, you’d want to adopt her, love her and nurse her back to health.

Now if people could visualize an innocent child, blind and immobile, struck down by a horrendous disease.  He/She is unable to control their bowl movements- parents wake up to find their child laying in poop. This is the reality of more families then you could imagine. But you don’t see it.  Our society would never splash those images for public viewing. 

What can we do to raise more awareness.  I have one answer. So I’ll leave you on a very positive note.

Three words 1 person, Jonny Lee Miller!  Jonny is doing everything he can to help us raise awareness for rare diseases.  Jonny is joining us at the Rare Voice awards in DC,  Jonny will be raising his voice, to bring much needed attention to our plight.  This is just what the rare disease community needs, more public figures and celebrities to stand up for us.  Our families can’t reach the masses like Jonny can. FYI for an actor to take time off during a work week to do anything personal is almost impossible. Even taking a sick day is frowned upon.  Scenes have to be re-written the work of the entire cast and crew is disrupted.  Jonny pulled a lot of string to get the time to help us.  Jonny’s conviction to our cause will surely get peoples attention.  Watch for the announcements on our FB and twitter feed.  #anythingispossiblebytheway.  Meanwhile please vote  http://bit.ly/win4jjb  Vote for JJB everyday until the 30th.

Respectfully yours,
Jill

Celebrate Good Times!

I feel like celebrating, for once the rest of the summer is going to be smooth sailing (knock on wood).  All of JJB and PN’s major projects have worked themselves out.  I’m actually thinking of taking some time off!

Jonah has been doing very well, I just want to pinch myself I can hardly believe it.  He turned 6 last week and has no signs of regression.  Scholastically he’s not keeping up with his peers, his report card would have sent the ‘typical” parent into panic mode, but not us, Jeremy and I were giving each other high fives.  We have been grinning ear to ear this Summer.  Statistically Jonah should be down to just a few word sentences and not following any direction, running all over the place wrecking havoc wherever he goes.   Yet, he’s still sleeping soundly, he stops his scooter at street corners and walks through the intersections with me!  It’s absolutely amazing.  I’m not sure why we’re so lucky, I can attribute a lot of Jonah’s success to his early diagnosis, which gave us a chance to institute early intervention.  In case you haven’t heard this before... Dr. Cao is our HERO. 

Since 2012 when Jonah’s blood work came back with elevated enzyme levels in his liver, we have had him on genistein. Raquel, convinced me to put Jonah back on it, attributing the genistein to helping restore Joana’s elevated liver enzymes back to normal.  Jonah’s liver is now back to normal too... Ive discussed genistein lots of times in the past, so I won’t re-cap what it is, for more information go here. http://jonahsjustbegun.org/sanfilippo-clinical-trial-high-dose-oral-genistein-aglycone/ 

Recently the genistein trial hit a speed bump, after loosing a major donor.  Which has left our consortium scrambling to figure out how we can financially help keep the trial on track. 

If genestin is proven to be an effective treatment for Sanfilippo it would be able to go straight to the shelf, in the US genistein is FDA approved as a food supplement, women use it for menopause.  Jeremy and I were paying $500.000 for a month supply, insurance doesn’t cover it, recently we found a new pharmacy that would order it for us at a much less expensive price, $1,000 for about 3months.  Unfortunately the manufactures supply is now gone and they have not said if they will make more or not. 

Many parents would have me believe that I can attribute Jonah’s stability to the use of genistein, however I remain a skeptic and I want proof!  But even I can’t deny that for some reason Jonah is above and beyond where he “should” be.  In a few months we will be out of genistein.  What if Genistein is really helping our children? We have to find out!

Does this make sense?  We have paid $6,000 a year for almost three years for genistein thats $18,000 USD, my best guess estimation is that at least a 100 children in the US alone are taking genistein, that amounts to almost 2 million dollars spent on genestin over the last three years. The current trial is budgeted at 650,000£ and they will have results within 2 years.  If successful- genistein would immediately become an FDA approved drug for Sanfilippo and our insurance companies would have to cover it. We literally can't afford to see this trial fail.

The Purple Lemonade Stand, a fundraiser created by Grey, Blair’s (MPSIIIB) little sister. What started out as a cute neighborhood lemonade stand has turned into a STAND that raises tens of thousands of dollars over the summer season!  With the forthcoming gene therapy trial for type A and B coming up, the sanfilippo community is directing their focus to ensuring that this trial goes as planned.  MPSIII families are taking their fundraising efforts to a new level, pulling out all the stops. Check out “Team Nola’s” facebook page for some hysterical old school fundraising efforts.  For example, tying up a goat in your neighbors yard, making them donate to remove the goat....Hysterical!   FYI there isn’t any grass on our avenue....grass that grows in the FRONT lawn anyways.

JJB was asked to participate in the what is to be the Purple Lemonade Stand (PLS) phenomenon. If there is one thing I can get behind it’s an old school lemonade stand.  Brings back memories of when my sister and I would set up a lemonade stand on the 4th of July in front of our church, the stopping point of my towns annual fourth of July parade. Side point, by Brooklyn standards Willamina is more of a village then it is a town, it’s kind of like a park, but think half the size of Central Park i.e. Prospect Park, with more trees and squatters. Churches to bars remains equal. 

JJB hosted it’s first PLS over the 4th of July weekend on the Jersey Shore. Aga, our new intern lives in the neighborhood.  It was the perfect spot on the perfect day except for the fact that people don’t carry cash when going to sit on the beach, live and learn Regardless it was a lot of fun,  our stand was super cute and everyone that walked by stopped.  I stood by and answered question about “the charity”.  I remained incognito, I’m a sales person by trade and I know my stuff.  As long as nobody knows that my stuff is personal then I can sell it with a smile.

Then came our next PLS gig, in my own neighborhood. The perfect location- our neighborhood BID (Business Improvement District) program set numerous dates for street fair parties for the neighborhood.  BID shut down traffic between 6 blocks including our block, the vendors set up fun kid friendly stands in the street. Our neighbors came out to participate in the festivities. We danced and played in the street, fire hydrants were opened up for water play, restaurants brought tables out and served us. It was the perfect venue to introduce JJB to the neighborhood and raise funds by selling lemonade.  I backed out of participating.

I ask you... What would you think of a women a mother standing in the street asking for your change, to help save her son?  Then to realize that your child goes to the same school as her child, come to think of it you have met her at the playground where we talked about our kids.  Would you walk on by and pretend you didn’t see me?  Would you walk up to our stand and happily buy a cup of lemonade and drop a $20 in the donation jar?  Would you wonder... How does she stand on the street with a smile on her face and tell people that her son dying?  Is there something wrong about this scenerio?  For me it was unnerving so I called it off.  Next year, I hope to have volunteers (moms like me, minus the terminally sick child) out there representing JJB. 

Think about where you can set up a stand now: town picnic, fair, sporting event, at a stoop sale or garage sale or just on your street.  Last week Katie Couric interviewed Ed Norton (the creator of crowdrise)  Our Purple Lemonade Stand was featured at the very end of the interview!  It was referenced at how children can get involved in fundraising and supporting causes. Check out JJB's PLS crowdrise fundraiser, hit JJB’s profile and create your team now.







I’m dedicating this blog to three extraordinary women that fought for life and have been rewarded with a second chance.  My Aunt Barb had a massive heart attack last week, she stopped breathing for over half an hour, the EMT’s were on the verge of calling time of death.  Aunt Barb looked death in the eye and told him to KICK ROCKS!  Not even a week later and she’s on her way to what we think will be a full recovery!!! CELEBRATE LIFE!  To our dear family friend Carole, whom discovered her on very rare form of breast cancer, she insisted that her oncologist dig deeper when a mammogram showed nothing.  Weeks later Carole underwent a mastectomy and is now finishing up with chemotherapy.  You go Carole!  I saw a breast cancer T-shirt the other day and thought of you.  It said FIGHT LIKE A GIRL.  To my mom, who has lost over a ONE HUNDRED pounds and is looking forward to having the loose skin removed this fall.  A whole new body and leash on life. Awesome!  I’m so excited for her.  The other day a man in the Staples line struck up a conversation with me, he told me how he lost a 100 pounds with a lap band.  I told him about my Mom and he asked if she had a lap band or gastric bypass? As if these were the only ways to loose weight.  I said no, she lost it the old fashioned way.  He responded, oh yeah how’d she do it?  Um diet and exercise. He was SHOCKED!  I’m not even going to go there. Aunt Barb, Carole and Mom, I’m so glad you guys are going to be with us for many many more years, your children and grandchildren need you!

Aunt Barb and cousin April at Bunco fundraiser.

Carole on left was our auction table volunteer.

Our Mom on her way to dropping a 100 pounds!

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 @jiricou  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.

I take it back!

I take it back.  The other shoe has not dropped, it’s back on and Velcro tight.  We had Jonah’s adenoids taken out in March and it has made all the difference in the world!  For the first time in a year Jonah can actually breathe out his nose. He has had a sinus infection every month for the last 7 months, but not now.  He’s all better.  The operation has made a major difference in his personality.  We’re in a state of shock and I hope I don’t jinx it, by bringing it up.

It’s been a pretty amazing month.  Dr. Cao’s run raised over $11,000! Our friend Pyare is doing his first half marathon on Sunday and he is only short $300.00 for his $3,000 goal!  https://www.crowdrise.com/bkhalfforjjb/fundraiser/jonahsjustbegunfound

Jeremy’s cousin hosted her first fundraiser for JJB too! Our sister organization Levi’s Live Love Laughter has been extremely busy pulling together a golfing fundraiser, in honor of MPS awareness day, there are dozens of golfing events going on all around the world, our goal is to raise a million dollars in 1 day. https://www.facebook.com/events/678415762168439/  Sunday is going to be a huge day and I wish Pyare and my sister organizations all the luck in their endeavors!

Tomorrow is MPS awareness day.  It’s a day for everyone to wear purple and share their story of how MPS affects them or someone they know and or love.  Jonah’s school has sent home a note with the kids and emailed all the parents asking them to send their children to school in purple.  I can’t wait to see the turn out.

All this help during this time is extra special.  This week marks the 4th year anniversary of Jonah’s diagnosis.  Four years....  For the first time in four years, I’m feeling like we’re in a really good place. It’s truly all coming together. It’s a massive amount work, but now we have a dependable and generous team supporting us.  Furthermore I had the best Mother’s day ever, we took Jonah to the lego store at Rockefeller center, I stocked up!  Then we had a really nice dinner, just the three of us.  Jonah was on his best behavior.  For our wedding anniversary, Jeremy and I actually got a sitter and went out for a lovely meal. I’m feeling a bit spoiled.

This weekend Jeremy, Jonah and I will be doing our part in planning our next fundraiser.  We’re heading to MA to visit Ben’s Dream and the JLK-Sanfilippo Research Foundation.    We’re making a short clip on our three families.  After a few nights in MA, enjoying time with our close friends, we’re heading to Montreal!  As luck would have it our primary investigator for gene therapy, Brian Bigger from the UK will be visiting Alexey’s lab.  We get to film Alexey and Brian together in Alexey’s lab!  How fun will that be?! I don’t know about you but I’m super excited to see Alexey's lab in person, while Jonah get’s to meet his entire lab. It’s going to be a really special reunion, I just hope we can capture the emotion on film.

This month hasn’t gone by without some tears.  There is a new MPSIIIC diagnosis also in MA.  The boy is 13!  It’s a classic story that we hear way to often, the boys family knew in his preschool years that something was off, after two rounds of genetic testing coming up with nothing.  The family was just told: “I’m sorry, for some unknown reason your son has brain damage.”  The parents adapted to their new normal, they luckily have a good school system and are receiving a lot of services for him.  Lately, their son has grown more and more aggressive: “like an ADHD child on steroids.” Making it extremely hard on the family to control him.  The mom started searching for answers again and they came back with MPSIIIC. 

We’re going to meet the family along with a third type C family while in MA. It will be difficult seeing all the kids in various different stages, one of the families has two sick children the mom was pregnant when her older child was dx’d, she’s now 17mo and the youngest known MPSIIIC child in the world. I’m really looking forward to holding her and looking into her eyes.  I want to tell her that we’re going to save her...  Is that ok?  Or should we wait and see. I’m so tired of waiting.  For the Sideman’s the waiting for a treatment for Ben is over. Our interview- with Nancy and her three girls, me and young Jonah and no Ben... There’s no doubt in my mind that we will paint a compelling story. I HATE having to tell it.

Speaking of a compelling story, here’s the clip from mine and Jonny’s trip to DC, where we spoke on a panel, preaching to our legislators for the need of federal dollars and incentives to spur the treatments for rare diseases..... I start talking at around 40min. I suggest you watch the whole conference, the panelists tell a really good story and they set the stage for my speech. I can’t even begin to describe to you how nervous I was, I was wound so tight I thought I’d explode.  Jonny was cool as a cucumber, I couldn’t have asked for a better coach. Having him next to me, supporting and encouraging me... I don’t know that I could have gotten through it without his advice.
http://www.youtube.com/watch?v=NXRG-qmBY1k&feature=share&list=UUL155EYAyLhYiPe-a1PbXTw&index=6

For my Throw Back Thursday clip watch this... It gives perspective how far we have come. Four years ago, it feels like a life time.  I plan on being in trial in the next four years... come hell or high water we will get there.
http://www.youtube.com/watch?v=kdFWS21EH5c&feature=share&list=UU2DPEYfkEZUUpEJuCHwP1fQ&index=4

Don’t forget to wear your purple tomorrow.  Tweet us pictures @JJB4CURE #MPSIII  Help us raise awareness. Who knows you might just help diagnose another child.

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.
https://www.youtube.com/watch?v=jjW8grqwT-c
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.
http://superpoderescontrasanfilippo.com/
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. https://www.youtube.com/watch?v=G0IY8qG7J-I

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: http://www.active.com/brooklyn-ny/running/races/17th-annual-cinco-de-mayo-5k-run-2014

Or sponsor a runner at: http://www.crowdrise.com/SSPforJJB

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.
https://www.youtube.com/watch?v=fa-mnfPcEKI#t=234
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.
http://newyork.cbslocal.com/2014/02/26/elementary-star-jonny-lee-miller-works-to-solve-sanfilippo-syndrome/

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. http://www.wusa9.com/story/news/local/2014/02/27/interview-jonny-lee-miller/5884685/

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.
http://myemail.constantcontact.com/Helping-Has-Never-Been-Easier.html?soid=1105984887407&aid=WDHF5RTMXiE

Jonah and Dr. Cao