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Tuesday, July 3, 2012

We stormed the Castle

Nicole Bioce or the RARE project, me and Julia of RDLA.
We stormed the castle. 

I wanted to get this blog out before I went to the Netherlands,  which didn’t happen.  Consider this installment #1 of 3.

Two week’s ago I attended a ginormous bitotech conference in Boston.  The conference offered 100’s of sessions on how to become a biotech it was like Bio 101- just what I needed.  There were so many classes going on at the same time, it was hard to choose.

Attending the Biotech conference was much different then attending a scientific conference.  I imagined that I’d feel out of place.  I thought- where do I get off being the CEO of a virtual biotech?  But it wasn’t like that, I ran into a handful of biotech friends and I realized I was surrounded by people who admired me for what I was doing and were more then happy to lend me a hand. I accomplished what I set out to do and I took a lot out of the conference.

The first night of my trip to Boston I met up with my friends from RDLA Julia Jenkins and Jen Bernstein,  Jen is a lobbiest she works for companies like RDLA and Ammicus.   Stephanie Fischer, the director of communications with BIO was there along with a couple of other patient advocates like me. My new best friend Nicole Bioce of the RARE project, graced us with her presence.   We all had a lovely dinner at a beautiful restaurant and who should be sitting at the table across from us... The mayor of Boston!  So of course we had to bend his ear and get a photo opp.

So there we all were when Julia received confirmation via Iphone email that indeed our accelerated approval language from the ULTRA & TREAT acts actually made it into PDUFA V intact.  I can't get over the timing of the announcement and the coincidence that I was with the people that wrote the legislation and lobbied for it.  I don't believe in coincidences anymore.

While my lobbyist's friends celebrated their personal victories.  I was overcome with emotion, this legislation is literally half our battle and I can't believe it fell into my lap.  Again coincidence?   Many other rare diseases have gone up against the FDA and lost... Thousands of children have died while waiting;  gathering the time consuming data for the FDA when lifesaving treatments were ready for trial.

I reminded my friends why they did this, it's not about concurring the FDA or proving our op posers wrong.  It's about the families, families like mine.  This legislation just doubled our chances for saving our kids, saving Jonah.  They just opened the FDA's doors wide open for us.

Thanks to all of my friends and family and to the many other disease groups that sent in a record breaking amount of calls and letters to their legislators.  The grassroots effort of the rare disease community won and we won big!  Thanks for being a part of the movement, we couldn't have done this without the constituents support.  Here are the specific's.

Page 92:
‘‘(B) EVIDENCE.—The evidence to support that an endpoint
is reasonably likely to predict clinical benefit under
subparagraph (A) may include epidemiological,
pathophysiological, therapeutic, pharmacologic, or other
evidence developed using biomarkers, for example, or other
scientific methods or tools.
Page 94:
(3) CONSIDERATION.—In developing the guidance under
paragraphs (1) and (2)(A) and the amendments under paragraph
(2)(B), the Secretary shall consider how to incorporate
novel approaches to the review of surrogate endpoints based
on pathophysiologic and pharmacologic evidence in such guidance,
especially in instances where the low prevalence of a
disease renders the existence or collection of other types of
data unlikely or impractical.

The conference was electrified due to the timing of the PDUFA V finalization.  I was sitting in a session where John Crowley of Amicus Pharmaceuticals spoke (John’s life was made into the movie Extraordinary Measures with Brendon Fraiser and Harrison Ford.)  The rest of the panel included Anne Pariser the associate director for Rare Diseases @ the FDA.  The session was moderated by Wayne Pines the president of regulatory services and Healthcare. Pines asked the panel of Pharma CEO’s:  "What was the most important piece of language added to PDUFA?
The three pharma peeps unanimously agreed that our accelerated approval language was the most important piece of legislation.

Anne from the FDA just scowled, you could cut the tension with a knife.  Then our fair feathered friend Tim Cote, the x director of the Orphan Drug Dept @ the FDA,  stood up and asked the panel: “So what now... does this mean the rare disease community should flock to the FDA?”

Someone in the audience replied: “Yes!  It’s time that the groups with treatments put pen to paper.”  (Meaning it’s time for us to start writing our IND’s.)  Tim Cote is the man that was in the GMA interview with me at the time he supported my stance.  I was naive then I didn’t realize that he was just placating me.  Tim wasn’t asked back to the FDA when his contract was up....

Several of the sessions went on like this.  The Super Session facilitated by Margaret Anderson the director of Partnering for Cures (the conference that I met Sean at.) The panel included the Medical Dean of Harvord, Sanofi and Lilly Pharmaceutical bigwigs, Francis Collins the director of the NIH and Janet Woodcock the director of the FDA. 

The conference started out on a contentious note.  Francis told us how broke the NIH is, that there is less and less funding for them.

Janet Woodcock told the audience:  “The FDA approves 80% of the drugs that are approved for clinical trial.”  “So clearly we’re not the problem.”  (She was accusing the FDA for not supporting them more.)

I guess that means that it’s the problem of the families suffering with an Ultra Rare disease.  Since we’re funding research for an ultra rare disease that doesn’t have the clinical data needed for a clinical trial and never will because our kids don’t live long enough to get the data.  I guess we’re all just SOL.  Not anymore, thanks to the new language in PDUFA V.  Look out Janet here we come!

RDLA Poster, never mind the random beer. Jonah is on the upper left corner. I'm standing with my representative Nydia Valesquez.
All in all the conference was awesome!  I ran into so many people and made several new  connections. The RDLA had a booth, their poster featured pictures of my family lobbying on Capitol Hill.

To top the week off I took the bus out to Cape Cod from Boston where Jeremy and Jonah met up with me at the Burke's rented cottage.  I had the most blissful weekend.  No internet access, a forced vacation.  Jonah had a the time of his life hanging out with the Burke girls.  Kelsey was at Jonah’s beck and call.  They adored each other. We all swan in the ocean, relaxed and convalesced.  Being with the girls helped me adjust to the disease. 

For better or worse: "We're all in."
The girls are all in different stages, regardless of the progression the young ladies are all beautiful, even without communication you can hear their souls talking to you.  You know that behind the disease they’re all dynamic women and would have excelled at everything they set their minds too.  I greatly admired them, I looked passed the disease and felt with my senses. I could see the person that they were supposed to be. 

Life has dealt the Burkes an unbearable deck, but they hold their heads high and get up everyday, for the unconditional love of their girls.  I have nothing but the utmost admiration for Paul and Nancy.  They work together like a precision clock, they never sat down. Moving from one girl to the next constantly picking things up and preparing for the next activity.  They didn’t skip a beat. I wouldn’t say that they have accepted their fate, they keep the hope alive.  But the happy moments are few and far between. 

Lindsey doesn't talk much now, since her illness last year.  She woke up before Jonah did and came to me.  She looked at me intently and carefully posed her question: "Where is the little boy?"  It brought tears to my eyes. 
My new goal is to make the Burkes filthy rich with the biotech, so that they can buy a beautiful home on the beach. Where Jillian can feel the extremes of the weather, the wind in her hair and rain on her cheek.  Where Lindsey can collect rocks and shells to her hearts content. A place where Kelsey rarely gets bored.  The Burkes are the strongest people I have ever met, they are my inspiration.