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.

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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