Monday, March 28, 2011

A Great day for RDH12 Fund for Sight and LCA research

I would like you to "meet" Dr. Jean Bennett
 This is the woman who will be leading the RDH12 research to CURE our kids.  CURE.

She is an amazing woman.  We met her last summer at the LCA conference, and asked her then if she would take on our kids LCA type and she said yes.  She told us what she would need to get the research done, and.....

we did it.  With the help of ALL OF YOU.  Today, with more pride than I have ever felt - we turned over $70,000 to start the research for RDH12 research at the University of Penn.

We walked into the conference room, and were met by more than 30 people that were involved with Dr. Bennett, and were invited to the luncheon and to meet us.  We were blown away.  We had a chance to talk to many different researchers and doctors, and learned so much. 
And the funny thing was - they couldn't stop thanking us for raising the money and helping to start the research.  When really - we cannot thank them enough.  We put the future of Finley's, Bella's, Abigails, Lilly's, Bill's, Aiden's, Gabby's, and ALL RDH12 kids sight in their hands today.  We pin all of our hopes for a future that has our kids as sighted people, on them.

Dr. Bennett had us take several pictures with the giant check (that thing was hilarious - real check was safe!) and many people in her lab.  Since we had to be in all of the pictures, we will have to wait for the press releases to share more photos.  I want you to see all the people that are involved - you will be amazed.

Once we were done taking pictures, we had lunch - and everyone stayed to talk with us, and listen to what we had to say and what Dr. Bennett was going to say.  They listened and answered our questions.  We never felt rushed.  They take their work very seriously.
Dr. Bennett got up and stated that she knows - not thinks - KNOWS that she can cure RDH12.  This first year will be to get "Proof of concept", which is to building the therapy (medicine) and then try it out to make sure that it does what it is supposed to do (in this case - correct blindness).  This will be done on mice.

Now, don't fret about the mice.  These are mice that have RDH12 (we understand that they are already on their way to Univ. of Penn, which is AWESOME).

She has everything she needs at this point with the money we brought her.  They already started to build the therapy and once she has the mice up and going, the rest of the year will be about showing that it does what it is supposed to do (which is improve the mice vision).

So, this first step will take about a year.  We are hoping that March of next year, we will be ready to move on to the next phase at that time.
That brings me to the next step.  Our goal for next year is going to be $250,000.  I know that is $100,000 more than I originally set a goal for, but I KNOW we can do it.  We are going to need your help to get to that number.  All 5 families we have right now in our Fund will all be pooling their efforts with us to reach this number.  We can do it.  We have to do it.

The next phase is where they test the safety of the medicine.  This is why it is so expensive.  While we know it will be perfectly safe, it is still a step that must be taken.  And then after that - on to clinical trials for humans (after miles of paperwork!).

We talked to Dr. Bennett about when she thought we might be at clinical trials for people, and her guess would be in 3-4 years.  That is it!!!  Isn't that amazing?  If all goes well, and we keep the funds up, then before Finley gets out of elementary school, she will be in a trial to be cured.

All because our friends and family (of all RDH12 kiddos) cared so much about our kids.  You made this happen.  We couldn't have done this on our own.  We stood in that room today - less that 2 years after Finley's diagnosis, and we started RDH12 research.  Years and years before it would have ever been considered otherwise. 

Other things that were discussed today is how different some of our kids present.  For example - Finley is missing her central vision, but other kids with RDH12 are missing their peripheral vision.  We were told this is common for LCA.  That most kids have some commonalities, but there are many differences and variances as well.

We asked about getting in contact with other RDH12 families, and Dr. Pierce (who sees mainly LCA families) would be happy to give any RDH12 patients he has our information to get in contact with us.  He thinks he is 3-4 families with RDH12, so we are hoping that we hear from them in the near future.

Mostly - we were asked questions - how we were able to raise this money (they were really blown away by the generosity of our families and friends), how our kids feel about all of this attention, how we met the other RDH12 families, and some of our fundraisers.

Dr. Bennett, and Dr. O'Brien (who is the chair of the department of Opthamology) sat with the kids during the whole lunch and colored with them and helped them with their food.  You could tell that they cared about them very much, and were happy to have a chance to get to know them better.

After the lunch, we took a tour of the lab.  This was so fun for the kids.  Dr. Bennett knows how to work a crowd of kids!!  She gave them all rubber gloves (they thought they had died and went to Heaven), and then showed them how dry ice and liquid nitrogen worked.  She let them look into microscopes, and showed them all around the lab.  The kids didn't want to leave.  It was very sweet of her to show them where the "magic" happens, and gave us a chance to see it as well.

At 1:30, we said goodbye and headed back to the hotel to go home.  It was hard to say goodbye to The Fiore family and Kinney family, because now it is like saying goodbye to family.  The kids had a great time together, and were already planning the next time they could see each other.
 The Kinney's

The Fiore's

Today - I sat in the conference room at the University of Pennsylvania.  Looking out the large glass windows at the beautiful view.  I thought back to a little less than 2 years ago, when I sat in the retina specialist office - Finley in my lap - and listened to him tell me she was going to go blind.  And now?  Look where we are.  After wallowing in self pity and pity for Finley for about a week, a fire was lit.  And it has grown and grown.  And we lit a fire in all of you.  And you spread it to others.  And because of that - I stood in front of the person who will cure Finley with a check. 
I just can't wrap my mind around this enough to explain how we are feeling.  I know that today, we made huge difference in the life of kids with RDH12.  Tonight - you need to give yourself a big pat on the back for making research possible on a rare, genetic disease that would probably never have been cures in our kid's vision lifetime without your help.
Arlington and Abigail became fast friends.

So get your fundraising shoes on!  $250,000.  Can we do it?  We sure can.

Life is 10% what happens to you and 90% how you react to it.  Today, was proof of that.


Spenta said...

My son Darius has LCA with RDH12 gene. How do I contact you to donate and talk to you about this? Thanks, Spenta

Spenta said...

My son Darius has LCA with gene RDH12. How do I contact you to talk and donate? Thanks Spenta

Anonymous said...

my daughter also has lca with the same gene. Please tell me how I can make contact.

PletcherFamily said...
This comment has been removed by the author.
PletcherFamily said...

Anonymous - please contact us at email or go to our websites to contact us there: or