Thursday, November 3, 2011

Prelude to a kiss

I am exactly where I belong.  Today was one of the most amazing days of my life.  My flight landed at 9:30 p.m. last night, but I was so pumped that I was up and ready by 6:30 a.m. this morning.  I made my way to the Conference and sat through some interesting sessions today.  Here is a brief summary of the sessions I attended:

Workshop: Novel Strategies for CF Therapy--The speakers in this workshop discussed topics including results of a clinical trial to test the anti-inflammatory properties of N-Acetyl cysteine (bioadvantex fizzy tabs).  Clinical test showed a "protective" effect of orally ingested NAC against pulmonary exacerbations.  They are interested enough in this data to proceed with further trials.  The stats weren't mind blowing, but interesting. 

Gene Therapy: I made a point to attend these workshops because I feel that it is an area of research that I know the least about.   The first speaker addressed the gene therapy trials and success they have seen utilizing lipid-mediated gene therapy in mice.  I realize the concept of gene therapy has been around for a long time.  It seems like they have finally found a vector (method of delivery) with the lipid model that facilitates sustained gene expression that is well tolerated by the patient.  Mice treated with nebulized therapy showed gene for extended periods, as well as changes in mRNA. The "lipid model" has already been tested in humans and the next presenter addressed safety and gene expression in humans with CF for his talk.  They found that very low, repeated (monthly) doses of gene therapy gave the fewest side effects with the greatest translated gene expression.  A larger study is planned to initiate soon, but funding was cited as a major obstacle to moving forward.  I've been so focused on Vertex for obvious reasons, but it was great to hear about this potential "cure" continuing to progress. 

CFTR: Fixing DF508
It is complicated business to correct the function of DF508.  Today I learned that researchers have discovered 2 separate dysfunctions that cause misfolding of the CFTR protein for this mutation.  Estimates show that approximately 20-30% CFTR function must be restored to get significant clinical benefits.  So far, they seem to be hitting a ceiling with how much they can restore with ANY single corrector, including VX-809 (which they estimated restored 15% CFTR).  I heard, for the first time ever, that they think it will take a combination of TWO separate correctors plus the VX-770(or another potentiator compound) to hit their goal of restoring function for this mutation.  This DOESN'T MEAN that the correctors in trials aren't working...It means that it might take VX-809 + VX-661 + VX-770 for example, to correct for this mutation.  After a full day of lecture, I am just as optimistic as ever about the advances being made to treat DF508.  As I said before, it is much more complicated, but they are on it like "white on rice."  The detail that they are able to describe the function of the CFTR protein is just dizzying.  It is no longer a mystery, but simply a quest for the right combination of compounds.  It was stressed many times that no assumptions should be made until further trial data is released. I hope I can report more about this tomorrow. 

The Changing Face of the Infants with CF
This series of presentations highlighted the changes that have come about as a result of newborn screening and early intervention.  The session entitled "CF Lung Disease-No Time to Waste" was a little scary.  It basically showed statistical evidence(though CT scan) that lung disease begins to progress shortly after birth...even in the absence of symptoms.  20% of screened infants even showed early signs of bronchiecstasis in the absence of symptoms.  This early damage to the small airways can be undetectable.  What I took away from this workshop is: DO NOT WAIT UNTIL SYMPTOMS PRESENT TO TREAT THE CF LUNGS!  Be proactive rather than reactive.  By the time it is noticed through symptoms, significant damage is already done.  If you are on the fence about starting treatments like Pulmozyme or HS Saline...don't wait.  Just do it. 

Here is where things start to get really exciting!  After the classes today, all 4000 attendees came together for the 1st Plenary Session of the Conference.  I arrived early and found the giant ballroom mostly empty...except for Dr. Bob Beall, and several other major players that I have only seen in educational webcasts.  So I did what any good stalker would do.  I planted myself about 3 rows behind him and stared and smiled weirdly at him for about 10 minutes.  Finally, my excitement got the best of me and I launched myself at Dr. Preston Campbell.  He quickly decided I should speak with Dr. Beall.  He led me over and introduced me to him.  I know that I squealed, covered my face with my hands, and jumped up and down before I threw my arms around him.  This is not normal behavior for me.  I hugged him hard, thanked him, and I think both Campbell and Beall cried a little bit too.  Since people were pouring into the room, we didn't have much time.  Somehow, within a span of about 15 minutes, I landed a reserved seat in the FRONT ROW DIRECTLY IN FRONT OF THE SPEAKER!  I was seated right next to the Foundation big wigs and major donors.  It was amazing and surreal to watch the next few hours unfold.  The Plenary Session today was about the progress of the last 25 yrs in CF research.  It was like music to my ears.  I was lucky enough to meet some families in the CF community including Lindsay Shipp and her mother Barb.  Lindsay has participated in the VX-770 trials...and is also an amazing singer/performer.  She sang for us at the VIP dinner that I snuck into(thanks to Raven and Britt!).  I'm so thankful for people like Lindsay, who have done so much to pave the way.  Not to mention that she was just a beautiful little firecracker that lit up the room.  The VIP dinner was attended by only 117 of the 4000 attendees, so there were some important people there.  I heard that Bob was talking about me at his table, so we decided it would be a good time to give him the book of pictures and letters from all of us.  THIS IS WHEN I KISSED HIM!  3 times I think.  We took pictures and he was very appreciative.  I thought it couldn't get much better until later in the night, right before I left he told me, "In all my years, this is the most thoughtful, nicest gift anyone has ever given me."  I just about lost it.  For those of you that contributed, please know that he loved it for real.   I decided I'd better get out of there so I could cry it out in private.   All happy tears.  Surreal, overwhelming happy tears.  My coffee meeting with Bob was changed to 2:00 tomorrow afternoon and I learned that I will get the opportunity to film a "my dream for CF video" for the Foundation also.  The absolute only way that today could have gotten any better is if my shoes were more comfortable.  Please excuse any typos or errors.  It is very late and I'm exhausted.  More tomorrow.  Can you feel me smiling?


  1. Thanks so much for posting. I had a chance to go to the convention but had to skip it because my infant would not have been able to handle my absence for that long and so far away (we live on the east coast) so I am so glad to be able to follow this blog and cry happy tears too! Have fun today!