MAY! may it please end.

Just one week of May left. I think I can make it. If I shut the curtains turn off the lights and phones maybe everybody will think I’m out of the country.

Seriously this has been one of the longest months of my life.  Jonny’s run was just on the 4th and it feels like a year has passed since then.

May 6th is our wedding anniversary, 7 years strong.  May 15th is International MPS awareness day. We didn’t celebrate either date.  May 10th marks three years since Jonah’s diagnosis. We knew on our wedding anniversary back in 2010 that Jonah had an MPS we just didn’t know which one.  We tried to celebrate then, we went out for a lovely dinner which turned into a pathetic attempt of trying to conjure up some happiness.   A few days later Jonah was diagnosed, it was a horrific period in our lives.  In our education of the disease we learned it was MPS awareness day too.  We were both like... of course it is! You know how hard it is to rise to the occasion to celebrate an event that reminds you of the worst moment in your life.

Jonah has gotten so big and he’s such a cool kid.  He’s picked up the habit of giving you a thumbs-up, when he feels that you have done something good.  It’s quite an honor to receive that thumbs-up.  He’s turning into quite the little thespian too.  In the evenings he likes to reenact The Cat in the Hat.  He gives Jeremy and I our roles. I always start out as Sally, Jonah as the brother and Jeremy as the fish.  Once the cat starts his antics, the roles change. Jonah plays the roles of: Cat, Thing 1 and Thing 2.  His favorite part is when Thing one and Thing two run around the house, trashing the place. Fortunately the cat always picks up his play things.  It’s hysterical.

We’re so lucky that Jonah is doing so well. He’s incredibly happy, Jeremy is on break from work now and Jonah couldn’t be more delighted, he relish’s in having us both home together. I wish it could be like this forever.

So May 4th the run day.  Jonny ran 50 miles it took him almost 13 hours.  It was a beautiful day, nice breeze.  Jeremy, Jonah and I drove around with Jonny’s wife and son, trying to find Jonny on the trail.  At the first check point of 27 miles, 5 hours into the run, Jonny told Michelle that he was hurting real bad. He tweeted: “It hurts worse then Satan’s migraine.” Yikes! It was pretty hard not to feel guilty. At the 47 mile mark, Jonny was still running, we said hello, he ate some fruit and kept running.  Meanwhile we enjoyed the mountain, the boys played for hours.  The parents laid on blankets and watched the boys kick the soccer ball around. It was about 6pm when Jonny crossed the finish line. It was tremendous. Jonny was in good spirits, he made it!  He raised $131,000 dollars. Jonny has recovered now and is already talking about running the New York Marathon for JJB in November.  He’s trying to figure out how he’s going to raise the remaining $30,000 of his $160,000 goal.

The fundraiser kept me busy with promoting, interviews and eBay sales.  We’re still selling Oakley sunglasses on eBay, Oakley donated a 100 pairs of sunglasses to the race!!  We have already raised 5,000 and we haven’t even sold half of them yet!  We’re only allowed to make $5,000 in a 30 day period.  So we have to wait a few more days before we can start listing again.  Timex has also donated 25 watches for us to sale too!  This will help close the gap on Jonny’s goal.

The CNN interview also aired on the 4th.  We didn’t get to see it live, we were up on the Mountain.  I do have a DVD of it now, we’re trying to figure out how to rip and burn it so that we can post to YouTube, we need a 14 year old to help us figure out how. The interview was nice, it was cut short because of all the Boston backlash.  CNN let me write a blog to make up for all that was cut from the interview.  Which was really great, the blog actually had more of an impact that the interview!  You can still read it and see the clip of our family from the interview. http://www.cnn.com/2013/05/02/health/jonah-jill-wood/index.html  Can you believe I wrote a blog for CNN?  Or that my family was even on CNN?  Or that Jonny and Lucy Liu put in a good word for us and helped us get the interview? Never in a million years......

May 4th also marked the 50th Anniversary since Dr. Sylvester Sanfilippo characterized the manifestations of the disease Sanfilippo to the American Pediatric Society.  But before we could honor this milestone, to our astonishment Dr. Sanfilippo passed away on May 2nd! RIP.

Next to raising $131,000 and appearing on CNN, my favorite part of May was this article. 

https://docs.google.com/file/d/1OigYbFzweyZGF-WYFtN9NHGI5q4ERBeDeI2JYKdUY7FhgZEOH7SDy9E_TWMB/edit

I’m really very proud of this article, the author Lisa Jarvis did a magnificent job pulling it all together.  If anybody ever wondered what exactly it is that I: eat, sleep, breathe and dream 247 it is mentioned in this article.  If you have not read it yet.  You must stop reading my rambling blog and read this article. There I’m not even going to tell you about the other projects we’re working on this month. This is your homework assignment.

xo,
Jill
p.s. Many people have expressed their gratitude towards Jonny. Please tell him how you feel, put it in a thank you note, and mail it to:
Jonathan Miller
c/of Jonah’s Just Begun
PO BOX 150057
Brooklyn NY 11215

At the 47 mile mark, Jonah waves Jonny on.

At the finish line!

Jonah and his fiancee comparing their cool umbrella's.

Life is unpredictable and I wish I could just get used to it.

Life is unpredictable and I wish I could just get used to it.

At the beginning of the month Jonah and I spent some time in OR. Our first day of vacation we had a beautiful fundraiser, a Bunco party and silent auction.  Which was held at our friend Ila’s Tea Room.  Ila and my Mom set up an event that could rival any Martha Stewart benefit. I thoroughly enjoyed myself. The energy was great, everyone was happy to be there, good friends meeting up and catching up.  It was a wonderful experience Sue (Aimme’s Mom, MPSIIIC) and I addressed the room and informed everyone of the amazing progress that we have made since LY’s Bunco fundraiser.  We had the room in joyous tears.

Later that evening, Melissa and I went to an awesome wine tasting event 20+ wineries pouring. We worked the room tasting wines and networking for JJB’s wine tasting event.  It was a really nice evening enjoying a glass of wine on the porch overlooking the vineyards.  A great way to start off a vacation....

The next day I saw on Facebook that my friends daughter passed away in her sleep.  Mia, MPSIIIC was just 19, her death took everyone by surprise and rocked our Sanfilippo community.  Mia was a character and her mom (Kimberly) an expressive writer, Kimberly shared with us hysterical Mia stories on our MPS forum.  I always got a big kick out of Mia’s antics.  Most recently, she had taken her classmates homework and crossed out their name and replaced it with her’s and turned it in. A kid after my own heart.  When Jonah was first dx’d Mia’s Mom was very good to me, she talked to me with kid gloves.  She didn’t bombard me with the harsh realities, she made me feel like we could get through this. As hard as it is to acknowledge the reality of this disease, I take comfort knowing that Mia went peacefully.

When we got home our focus turned to Jonny Lee Miller’s ultramarthon.  I’m still in complete amazement over this mans generosity.  Like Jonah, he’s one of a kind. He’s bending over backwards to help us. I know how hard he works, Jeremy works next to him behind the camera.  They easily put in 50-60+ hours a week.  Jonny has been training in his spare time running several hours a day.  He did a four hour training run a few weekends ago in the pouring rain. The race takes place the week that Elementary wraps.  They just found out that they have to work the Friday before the race and back to work on Sunday.  They’re working Sunday because Saturday Jonny will be running  the 50 mile marathon for JJB.  Then they go back to work!  Part me is overwhelmed with guilt and disbelief  the other is just so thankful and relieved.

After it was to late to find corporate sponsorship, Jonny put out a letter to all of his friends and co-workers, letting them know about the race and Jonah.  Yesterday JJB’s PO BOX was filled with checks one of which was for $10,000, from one of the biggest celebrities in Hollywood.

The night before the Interview with the View, Jonny told Jeremy that he couldn’t sleep he got up in the middle of the night and went over his talking points. Check out the clip, notice how determined and direct Jonny is about getting the point across about the race and why he’s doing it. I was so proud of him and honored that he took the time to understand the science and talk so passionately about the cause. I was overtaken by how genuine he really is. http://youtu.be/ucnHTBJYPKU

On the East Coast the show was pre empted due to the Boston bombings. I’m going to refrain from commenting more on that day.  This month has been rife with sadness and anger. We have to try and find the bright side of life.  Otherwise we’re all doomed.

More good things to come. CNN is coming out from Atlanta tomorrow, Jonny got a couple hours off so he could interview with Dr. Sanjay Gupta the medical correspondent for CNN. The piece will be nice and robust. We get to tell our story and talk to the science, Jonny will tell why he got involved.  Seriously this is a dream come true, our chance for a full on interview with CNN, telling the world about Sanfilippo and the plight of the rare disease community. The kicker people will actually tune in because Jonny is bringing it to their attention. ha.  It will air the day of the race, May 4th.  So set your DVR’s.

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. http://cen.acs.org/index.html 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.


____________________________________________________________________

FLASH MOB vs ER STITCHES-March 3rd

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!  http://challenge.assaydepot.com/rare-disease-awards
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. 
http://www.thenorthface.com/en_US/endurance-challenge/bear-mountain-ny/?stop_mobi=yes

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!
http://www.crowdrise.com/jonahsjustbegunfound
______________________________________________________________________

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! http://jonahsjustbegun.org/

But BUNCO players in the mean time...

Catch up on Elementary, you can watch the previously aired shows on tv.com, 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.

Greetings from Sunny Florida, WORLD Symposium 2013.

Sit by me for a second, I want you to hear this.

Yesterday I sat in a huge auditorium listening to Alexey present his findings from our mouse model.  The timeline of the disease progression- at three months our mouse exhibits fearlessness is anxious and hyper.  Six months cognitive slow down and 12 months death.

He then shows his movie of our type C mouse side by side with a healthy mouse.  In the video we watch how the healthy mouse is careful to just run the perimeter of his box, not daring to leave the security of the sides and run out in the open. On the other side you see our darling type C mouse darting back and forth without a care in the world and no fear of entering the open area.

It’s hard to watch and hear, the entire audience is looking at this poor mouse, what are they thinking? Just then my sitter sends a picture text.  There’s my Jonah at the playground. Sure he has no fear and he’s probably making his sitter run for her money.  But that’s our Jonah happy, full of life and by all appearances totally healthy.  This is my son, he’s not that mouse.  We're all in an agreement right?  We have to make our treatment happen and fast.

By the way our new site is up. :)  Check it out. http://jonahsjustbegun.org/

#sanfilipposyndrome

The Cat's out of the Bag

If you were paying attention to my FB posts you’d know what my big news is... The cat’s out of the bag!

Valentines Day I’ll be in FL at the WORLD conference.  The conference is sponsored by the Lysosomal Disease Network (LDN) and the National Institute of Health (NIH). Three years ago, Jeremy and I went to this conference, it was the first time that I met many of our current scientists in person. Way back when, I shared my experience about our first WORLD conference and our meeting with Brett Crawford, co-founder of Zacharon. Brett’s son was at the conference, Brett introduced his son to Jeremy and I as the parents of a child that he was going to help save....

Today Zacharon has changed hands twice, first they were sponsored by Pfizer to help fund their treatment that would be developed for Sanfilippo and our sister diseases.  A few weeks ago Zacharon was acquired by BioMarin.  When I asked Brett if he was happy about the merger, he responded simply: “It will be good for the MPS program.”

There are so many up’s and downs in our journey.  Many day’s I just want to cry.  Two and a half years ago Zacharon had the first potential treatment in the pipeline for Jonah.    We had so much hope that it would be available today.  Now I have no idea where it stands. We can only hope that BioMarin takes it to the next level and fast.

The good news.  At this years conference Sean and I have been awarded a poster presentation.  Meaning we will have an actual poster featuring the ODDT app (click the picture on the side bar) and how it works for rare disease groups like Jonah’s Just Begun.  I have always wanted to be the Mom with a poster between all the PhD’s.

More importantly Alexey Pshezhetsky, our primary investigator and his post doc Carla Martins will both be presenting their findings on our mouse model.

Alexey’s talk is titled: “Mouse Model of MPS III type C Defines Pathophysiology of the Disease.”

Carla Martins talk is titled: “Evaluation of Brain Inflammation and Cognitive Abilities in the Mouse Model of MPS III Type C.”

I’m so thrilled that this evidence is being presented and I'm very proud of our scientists.  This is a great honor and a huge mile stone for us.  Three years ago there wasn’t a single talk on MPS III C, now there are two!

Alexey wasn’t at the first WORLD conference that Jeremy and I went to, but Brian Bigger was.  A trip down memory lane, how it all began.... It was at WORLD 20120, that we began the talks with Brian about conducting our gene therapy. 

A few months later JJB flew our scientists out to NY for a patient population meeting.  JJB and JLK had just granted Alexey a bit of money to hire a post doc and get started on our chaperon therapy.  At the patient population meeting, Alexey informed the rest of the group that our mouse model was in the works and that he had just applied for a huge grant from the Canadian Institute of Health.

Alexey was still in need of a post doc, unable to find a suitable candidate.  Raquel passed on the CV of a post doc that came highly recommended from the Portuguese lab that diagnosed her daughter, Joana.  So I passed along Carla Martins resume to Alexey.  They met and Alexey hired her!  Now look at where they are!

Alexey did win the Canadian grant for $650,000.  He attributes his winning the grant to the fact that he had the family support. Carla was able to continue her post with Alexey after winning a full scholarship from the Portuguese government. Today Carla works full time on our chaperon therapy. 

In a few weeks I will be sitting in an auditorium full of scientists and filled with hope and pride as I listen to our scientists describe their work on our disease to the rest of the scientific community.

Here is the clip that announces our trip to FL.
http://www.raredr.com/advocacy/videos/patient-advocacy-101-just-do-it-and-do-not-stop-eg-johansjustbegunorg

We have come a long way but we have so much more work to do.  Yesterday Sean and I had a conference call with Genzyme, another huge drug company that supports treatments for rare diseases.  I guess I should be honored that the VP’s of Genzyme wanted to talk to me.  There were six of them on the line.  They all had the chance to watch the above clip above. 

One of the VP’s said to me that his jaw dropped watching that video he was in awe of everything that we had done.  That was a nice thing for him to say, but it means nothing without a treatment.  Genzyme was on a fishing expedition, we can only hope that they are thinking about expanding their rare disease department to include ultra rare diseases.  They asked me a ton of questions.  They were very respectful and treated me as an equal, not a desperate Mom.  Not once did anyone ask me how Jonah was doing, I actually like that.  The phone call was business.

One thing resonates through me, one VP kept saying: 'Wow... We consider an Ultra Rare disease to be 1,000-5,000 patients.  Your disease is ultra ultra rare."

I have such a huge chip on my shoulder about our patient population.  Another VP followed up with: "How is it that you think a treatment for your disease would be cost effective for a drug company to invest in?"  So I gave them my elevator pitch.  Nobody said yeah or nay.

They gave me information about their future research endeavours, that will someday be beneficial to our kids.  They promised to help me anyway they could and would follow up with me.  But they did not make any promises on how they would help me. I told them exactly what I needed... What more could I say to them?  I take stock in knowing that we’re on their watch list.

I’m knee deed into promoting and planning for our FlASH MOB for Rare Disease Day. 
I’m working with the Global Genes Project to help me find other rare disease advocates in my area that would like to participate in our Flash Mob and unite in raising a voice for rare diseases in general.

All the projects that I have been working on over the past few weeks have really got me thinking about the importance of having our government support our research and allocating more federal dollars to the NIH for grants to diseases like Sanfilippo.  Thinking about Alexey’s work, he won that $650,000 grant from the Canadian government.  Carla was able to continue her work with Alexey because of a scholarship that she won from the Portuguese government.  I have applied for two NIH grants from our government and didn’t win either.  Having Genzyme ask me how it was that I was going to convince someone to sponsor our drug development.  Our government has got to intervene.  We can’t do this alone.  I haven't had a benefactor offer me a few million and Ive been searching.  I strongly suggest that anyone who can make it to the RDLA's Rare Disease Day-Lobby Day to go.  They will give you the opportunity to experience capital hill and talk to your members of congress.

This is why the FLASH MOB and World Rare Disease Day is so important to me, we have to unite and raise our voices.  Make an impact on the voters, show them what we need and why we need it. There are 30 million Americans suffering from rare diseases.

Last Sunday was our first rehearsal for the Flash Mob and it was a blast!  The dance was super easy, when broken down and taught to us by the choreographer. I hope that we can gather at least 40 dancers to join us.  If you’re in the area, please register yourself for the event and come and meet up with us for at least one of our rehearsals, you’ll be surprised at how good it feels to take part in something that can make a difference in the lives of so many.

Follow this link to register and to learn about the logistics. xo Jill
http://campaign.r20.constantcontact.com/render?llr=ptgm6agab&v=001QORyCDlYxyufCAMD9R-EIDI4gSyi9EgXIn8dOFk4DEYxYBC6My5P4Ui7B8sw3aHVL1XMMPtLIlGUwChbQZKdaXhgi6HNhxwKfFGOEHfyk1T5oIsXlYWECJoVtbsVlWgzMQKX-_eRvNHrYVPkYac4ozqZ_eQG55JeGm7yjqP8lPVe7PxQcsBArhJdbAlNphPDXDei-V4xQaH_06vaLrS_gCAkbRICp4caNhJunzgtwvwo3Y1X9iNLsw%3D%3D

Move it Move It Move it!

Move it Move It Move it.

It just sank in, that my plate for February-March is ambitious even for my standards!

First Up, I need Dancers for our World Rare Disease Day (WRDD) Flash Mob event and I won’t take no for an answer.  Any able bodied New Yorker is enthusiastically encouraged to participate!  After viewing the video don’t tell me that you’re not able bodied enough.  We’ll take all ages, all skill levels, no dance experience necessary to perform a fun hip-hop routine.

We have two rehearsals scheduled- the first for this Sunday 2:00 pm at Work Space, 275 Prospect Park West at the corner of 17th. The 2nd is on the 27th of January at Work Space.  More rehearsals TBA.  

But in the mean time start practicing. YouTube video is up now, click the link.

The dance will happen at an undisclosed location in Brooklyn (Participants will be given the location.)  Our dance will be accompanied by an urban drum performance, who will warm up the crowd.  I’m hoping that Jonah’s sitters clown brigade will be available that day to bust a move with us too. The drummers and clowns will pull people in, then out of the crowed at 1:00pm sharp our group of 40 plus dancers will bust a move. All in purple of course.  We’ll pass out flyers at the end explaining the importance of bringing awareness to rare diseases and promote JJB. Ok so if you refuse to dance.... you can pass out flyers.

If you want to help JJB raise awareness for rare diseases for WRDD, give me a shout out jill@jonahsjustbegun.org

For groups not in the area you can participate by throwing your own event.  Our video was designed to be set to any music and anyone can use it.  To hook up with other rare disease groups in your area reach out to the ‘MeetUp’ event coordinators at the Global Genes Project. Amy  amyg@rareproject.org will be happy to help you find people in your area.  http://globalgenes.org

For more information on Rare Disease Day check out. http://www.rarediseaseday.org/
 
Hope to find a ton of responses in my inbox! 
Jill

p.s. Our Annual Walk is March 10th at Prospect Park.  Will need lots of Walkers too... You'll have JJB to thank for keeping you all in shape.

p.s.s. Almost forgot!  Last but not least our friends at the Rare Disease Legislative Advocates will be hosting an awesome event on Capital Hill.

I gave an interview to the Rare Disease Report on Monday, promoting the event.  This is an amazing opportunity for advocates to speak out to their Members of Congress. Here's the first part of the four part segment. http://www.raredr.com/advocacy/videos/why-attend-rare-disease-day-events-washington
Go figure the Rare Disease Report has decided to break my interview into four segments.  One can only assume it's because I talk to much.  The interviews will happen over the next 4 weeks, so watch for them. :)

Revved up and ready to go.

-->

Holy Snow!

Revved up and Ready to go. 

Nothing like the fear of greedy insurance companies to get my blood boiling.

Here are two recent articles that have freaked me out, I’m not going to panic…. Yet. If Jonah was already receiving an expensive treatment I’d be taking up arms now.  MPS patients that are receiving monthly infusions of enzyme should be getting ready for battle now.

http://www.xconomy.com/national/2013/01/07/biotech-ceos-see-insurers-as-the-new-boogeyman-not-fda/

http://in.reuters.com/article/2013/01/03/us-rarediseases-idINBRE9020C120130103

Insurance companies are beginning to scrutinize the health benefits that patients get from using expensive drugs.  Basically they don’t want to pay for quality of life.  Why is it ok that health care coverage is a billion dollar industry for insurance executives?  Jonah’s Physical Therapist nailed it: “People aren’t M&M’s”- Jane Weedon of WorkSpace.

These articles have given me invaluable information and have validated my concerns.  This generation of patient pioneers have to protect our children and the generations of Sanfilippo children to come, we will have to justify to insurance companies as to why our children need expensive drugs and treatments. A well designed and executed Natural History Study is a must.  The Natural History Study will paint the picture of doom and gloom… the nightmare that our children and their families are living in.  Much like a page ripped from a Stephen King novel.  

The MPSIIIC gene therapy research that JJB is funding, will cost over a million dollars per child (just one time.) Insurance companies won’t like that and many families will have to fight for it.

The article's have also given me another reason as to why we can’t put all of our eggs in one basket and focus on just one treatment.  We need to think outside the box and find treatments that aren’t going to cost a fortune.   It’s a fine line for an ultra rare disease.  A treatment has to be expensive enough for a drug company to find as a worth while investment, but if it’s too expensive insurance companies will put up a fight.

JJB will hope for the best but plan for the worst. 

Don't read into this blog.  I'm extremely optimistic for the New Year.

I’m super excited about another project that JJB and JLK are going to fund. It’s an edgy new concept that has never been done before.  The experiment has been in the works for over a year now and preliminary results are optimistic, so we’re going to jump in.  Not only is it a noninvasive and potentially inexpensive treatment but it’s application for other Lysosomal Diseases are promising.   

JJB’s funding for this project has come straight from the generous donations from the Holiday Remit fund.

I can’t even begin to thank all of our friends and supporters that have donated (I especially like our friends that work for companies that have matching programs, you’ll all be in my will.)  Donations from $5.00 to $500.00 it all adds up.   I watched this ridiculously stupid movie over the Holidays. The main character was bitching about the dent put into her $10,000 dollar couch.  I wanted to puke… What I could do with $10,000!  Seed money that has the potential to save thousands of lives, not to mention the unmeasurable difference in the quality of life that it would make for the affected child’s entire family.

Rare disease affects 1 in 10 people.  You know why my family is probably the only family you know of?  The majority of the other families are shut in’s.  As soon as the parents get home from work their child’s caregiver is relieved and they take over the constant care.  They don’t leave the house for dates or vacation, they can’t afford too.  Who will care for their child and how will they pay for it? There is no disposable income after paying for expensive medical care.

So for those of you who are embarrassed that you only have $5.00 bucks to donate to the Holiday Remit Fund, don’t be. We’re a testament to what five bucks can do. 

Next week I'll tell you more about how your donations have changed scientific history.  Alas, you'll have to wait.  I have to pick Jonah up from school now. 

Happy New Year!

Jill