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Monday, June 27, 2016

150 Heroes wanted!

I could really use a Hero right now.  It's been a tough month not only for us, but the whole world.

On July 23rd, I look forward to meeting a 150 Heroes at our event 'Heroes Among Us'.  To be one of the 150 Heroe's register here. 

  Ironic that Jonah would go in disguise wearing a villain mustache- when he's promoting a Super Hero event... Poor marketing on my part. Jonah is too cute to be a 'bad guy' he loves to fight crime and help others.
UPDATE- Since writing this blog, I have gotten what I wanted from the department that was stalling. I still stand by my rant. It just goes to show you that sometimes it pays off to be a squeaky wheel. Note I no longer visualize anybody getting punched.

When I was a kid and I didn’t want to do something I wouldn’t do it and you couldn’t force me either.  If I signed up for a sport or activity that wasn’t working out for me, I quit. I didn’t stick it out because my mom paid for it and it was money she couldn’t have back. If I hated my job, I searched for something new, put in my notice and quit. My motto was- life is too short to do something you don’t want to do. Ive always been able to cut my losses.  It’s hard to quit when you have invested time and money into something that you really wanted. There is no sense in throwing good money after bad. 

Now I’m stuck, I can’t quit, no matter how hard it is, I have to keep working. There are days when I’m so burned out that I can’t bare to open my email or take the next conference call.  I call out sick to myself and send a text to Mari:  “I can’t do it today, please don’t call me.”

Then I pick Jonah up from school and he screams: “MOM!” and throws himself into my arms, takes my hand and starts telling me about his day.  Quitting is not an option, to quit would mean quitting on Jonah, quitting on life.   I tell myself that I'll try again tomorrow.

In the last few months, three of my friends have all seen their children enter clinical trials. It feels like a miracle. I put myself in their shoes and imagine what it must feel like to be standing in a hospital room hovering over your child, watching the enzyme leak from the IV down through the tube into your child's vein.  Surrounded by the scientists that worked for decades on the treatment, your husband and team of doctors. I think that I would be so overwhelmed with emotion that I’d pass out.  I like to imagine this day. It’s what gets me through the hard times.

All three of these families were diagnosed years after Jonah. I’m not jealous, not in the least bit. Their good fortune gives me so much hope for Jonah.  The science for Sanfilippo type A and B started decades earlier then C and D. It’s about time that they are entering into clinical trials.
Abeona trial:

Biomarin trial:

When I first started out on this journey, I thought a lot about the steps that I’d have to go through to get a treatment to the clinic. So much so that I have driven myself a bit crazy.

The first stretch was to: create a mouse model, identify the science, identify the patient population, initiate a NHS and start funding the research. Five years later the science is nearing the clinic and we’re in good shape. With the exception of a constant need of cash flow…  JJB has a very tight group of MPSIIIC foundations fighting right beside me.  The Sanfilippo patient registry that we founded is taking off.  We have three different mouse models now. I assume that by the end of summer Jonah will be the first in our NHS.  We have accomplished everything we needed to for this first leg of our journey.

I’m now moving from working with the PhD’s to the MBA’s. I hate it. Metaphorically speaking- I want to punch all the money people in the head (repeatedly). When Jonah plays Heroes and Villians, he locks them up and puts them in jail.  The MBA’s  are the gatekeepers between a treatment and the clinic.  Before I can pass I have to pay them off. They seem completely oblivious to the fact that if not for the funding from patient organizations; this science would not have ever happened. Over these past five years, HANDS has funded dozens of postdocs to work in their labs, we have purchased expensive equipment that they get to keep.  The scientists  are able to publish numerous papers on their scientific findings.  Furthermore their scientists have been asked to speak at countless prestigious symposiums and conferences. All this brings fame to the universities and to their science departments.  Not to mention the patents they get to file on our research. What more can they expect from us?

I wonder if they have ever tried to put themselves in our position?  What would they do if their child was diagnosed with a terminal uber rare disease, that had no treatment?

When I blog, I mostly blog for my friends, family and supporters. This is my way of keeping these people informed. Secondly my blogging has a financial agenda. I want people to stay engaged and inspired so that they will donate.  Recently I was reminded that my blogs help others like myself,  plan their course of action. This next bit of conversation is for you.

Lawyer up. You thought just learning the science and funding the research was a painful process?!  Get your rubber boots on for the pile of bureaucratic greedy bullshit that you will have to trudge through to get your treatment past the University’s front door. Honestly the science moves faster then the politics.

For the uber-rare treatments, your science isn’t worth funding at the pre-clinical stage, nor is it worth funding at the clinic. But once the treatment is FDA approved it will be worth a very small fortune and the University’s want to make sure that they get their ‘fare’ share.  There is nothing fare about it.

Jeremy and I have spent 10’s of thousands of our own dollars on lawyers and advisors. Not to mention we have given up all of our free time for normal family activities to host garage sales and plan galas.  The University’s have spent nothing, they’re getting all the above for free. If I had the money I would throw it at them to shut them up and move on. But I don’t.
When we’re finally done with the negotiations, we will be going to the FDA. I’m hoping that we won’t meet with as much resistance as the money people.  The FDA’s job is to help create treatments not earn royalties.  Even with the orphan drug act on our side I know it will be a slow and painful process. The FDA doesn’t have the funding to hire enough people so that we can move fast.

I don’t talk much about our biotech Phoenix Nest.  I have to compartmentalize all my different jobs, thinking about everything at once is too overwhelming. I hope you understand.  Recently a press release went out about the three NIH grants that we won. This is something to be very proud of and I am. Reminder- these grants do not cover the research for Sanfilippo type C, which is Jonah’s subtype.  They cover subtypes B and D. I can’t win a grant for our type C research, because our labs are not in the US.  The NIH grants only fund science in the US. We’re working on a way around this. But until I have the licenses taken care of, I’m stuck.  We have to keep fundraising.

That brings me to my second agenda for maintaining a blog. For the New Yorkers- On July 23rd we are having our 2nd annual fundraiser hosted by South Slope Pediatrics.  You can purchase your tickets here.

For those of you who can’t make it, you can donate to our goal of $17,598.00 here.

This obscure # is how much it will cost to produce our GLP grade vector in mass.  We will use the vector during our last leg of research.  Since we created this goal, the value of the GBP has taken a nose dive. 

Side note… I don’t pay much attention to the news unless it directly affects my immediate future.  Several horrible tragedies have happened that even I couldn’t ignore. I’m really very sorry for the families that have lost a loved one in Orlando. World politics, the Brexit vote and Donald Trump. We’re going through some pretty unsettling times. We have to continue to fight the good fight. Otherwise the villains win.

Keep an eye on our goal here.

We also have two awesome raffle prizes!
1.) For the New Yorkers: an awesome package to Court 16 worth $600.00!  
2.) For those out of town you can enter to win a: first edition, autographed and doodled book from Jonah’s favorite author, Mo Willems! 

FYI, Mo has recently retired from writing 'Piggie and Gerald' books, this is your chance to win a first edition copy.

Get your raffle tickets here.