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Wednesday, January 23, 2013

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