Tuesday, August 3, 2010

LCA Conference 2010

 This past weekend was the biannual LCA conference for Foundations for Retinal Research (FRR).  FRR and Foundations Fighting Blindness (FFB) work together to fund research for LCA.  The FRR group was started by a couple who has a child with LCA.  They started 12 years ago, and they have told us that the last 5 years things have really started to move for LCA.  We would love to see this become an annual conference, now that things are moving more quickly.

We had a wonderful weekend.  We did leave the kids behind for this one.  It was nice to be able to just concentrate on the information and networking with new friends and not have to worry about little ones for a few days.  The conference was right in Philadelphia - not that far of a drive for us.  (although the New Jersey turnpike was a parking lot Friday afternoon.  Grrrrrr.......Jersey)

We got in a little late Friday night.  We had plans to meet some of the families we have "met" online, but we were too late.  So Saturday morning, at the beginning of the medical conferences, we finally had a chance to meet some of our new friends.

 We met the Stevens Family.  I cannot say enough about Jennifer and Troy.  They are an AMAZING couple.  You must check out their blog HERE.  They website HERE.  And their foundation HERE.  I will forever be grateful that we met them online.  When Finley was first diagnosed, I hunted for other families with LCA.  Jennifer was the first one I found that had a blog.  And she is a powerhouse at fundraising.  She took their situation and focused on a cure.  Just like we wanted to do.  She was who introduced me to FFB and Visionwalk.  And then to fundraising.  And then just to an infectious attitude about doing EVERYTHING we possible can for our kids.

 I couldn't wait to meet her and she met me with the best hug.  We hit it off right away, and it was great spending time with her.  We had a chance to go out to dinner with them Saturday night and really get to know them better.  Thank you Jennifer and Troy for showing us the sunshine through the rain.  I know - sappy.  But I am forever grateful we have them in our LCA family.

We also had a chance to meet Erin and Robert Drost.  I had met Erin online awhile ago - her little boy and Finley look like they could be siblings!  We hit it off right away and have kept in touch.  It was great to finally meet her.  She knew the Stevens Family as well, so they came to dinner with us Saturday night.  We had a great time getting to know them better and learn how they are dealing with LCA.  Such a strong family.  Their little boy has RPE65 - the gene they have discovered a cure for.  And he is going to be participating in the clinical trial in a few months.  The next time we see them - he will be cured.  SO AMAZING!  We are so excited for them.

 Saturday was an amazing day.  Tiring - yes.  But inspirational.  We listen to doctor after doctor talk about their research for LCA.  How much they have gained over the last decade - how close they are to cures for several other LCA genes.  (not ours, but it won't be long!)  Mat had a chance to bend the ear of many researchers and they were all very nice and eager to talk to families.  We took a ton of notes.  Our brains were full by Saturday night, but my mind was realing.  I could not be more pleased with the direction that research is taking for LCA.  LCA is so rare - but those researchers are making great strides - promising strides - for cures.  There are 15 known LCA genes right now - but they think there are about 30 more undiscovered.  WOW.  We consider ourselves lucky that Finley had a gene they already knew about.

 (The Haas Family, us, and the Stevens Family)

Saturday night - after we were back from a yummy dinner out with the Stevens and Drost families - Mat and I started to talk about wanting to meet other families who had children with the RDH12 mutation.  We had seen earlier that day that there were 5 (or 6 - I can't remember) families there with RDH12!  I cannot tell you that out of 100 families - that is A LOT for RDH12.  Remember - RDH12 only affects 4% of the cases - about 120 people.  So 6 there?  In the same room?  Amazing.

Sunday morning, we had the host announce that Mat and I wanted to meet these families.  We stood up, so they could see who we were, and within a few minutes - there were 3 families around us.  4 families - all affected with RDH12 - standing in the same room.  I know this sounds crazy, but it was awesome.  We have wanted nothing more than to meet other families whose children had the same mutation as Finley.  To hear about their children - become friends so that we could always keep in contact about changes in our kids.

So we talked for awhile and decided to have lunch together before going home from the conference.  We never did find the other family (or 2?) but are hopeful they will be in contact with us soon.  But the oldest of our group was a 10 year old girl.  And she has had the SAME SIGHT since she was 3!!  She still sees fairly well - doesn't use a cane often, and reads large print.  That was so encouraging.  Most - we found - had pretty good sight.  There was one family that had two children affected, so in all, we had 4 girls, and 1 boy with RDH12 in our group.

We had some pretty exciting conversations, but those will be saved for another post.  Sorry - but for now, I will just share who some are!  We didn't get a picture of the one family because they couldn't stay for lunch.  But here are two others:

 This is Ginny and Bill Pryor.  Their eldest son and middle daughter both have RDH12 mutation.  They came to the conference, so we had a chance to meet them.  The one thing I found interesting - her daughter doesn't like to feed herself  - just like Finley.  They have another child at home- a baby, but they haven't had her tested yet.  They were an amazing couple - very friendly!  We were so glad we got to meet them.

This is Maria and Michael Fiore.  Their daughter with RDH12 mutation is 4 1/2 years old.  They were a really nice couple and so excited to meet other families.  Like us - these families hadn't met many people with the RDH12 mutation, so it was exciting to "compare notes".  They don't live far from us, so we hope to be able to get together.

Then final thing I wanted to share is the "famous" LCA family we have been getting to know.  We "met" them online awhile ago, and we were so happy to meet them in person.  The Haas family.

 Their son was the youngest to be "cured" of LCA.  As most of you know, RPE65 mutation is the only LCA gene that has been "cured".  They only do one eye at a time, so he still has to have the other eye done.  His family spoke, and the doctor who found the cure spoke as well.  Amazing story.  They showed a video and we all cried!  They showed us his "before and after" eyes, and we were blown away.  What he could do before and what he could do after - amazing difference.  He had to use a cane and could barely see, and now he rides a bike, no cane, and he played baseball.  Outstanding.  Gave us goosebumps to think that someday - this could be our story.

This conference just motivated us more.  We know that research is our constant goal.  If you have been thinking of donating to our Visionwalk, please do!  We WILL cure Finley.  The time is coming.  She will be a sighted person for life.  We cannot do it without all of you.  The link to my Visionwalk page is at the top of this blog - please consider contributing to our cause.  The more money we give to research, the better her chances.  And then you can all pat yourselves on the back and say "I helped to cure Finley".  And it will be true.

We now know our total goal.  To cure RDH12.  To give Finley a life of sight.  This coming Saturday I am speaking at the FFB kickoff luncheon.  I will be talking about our family, our fundraising, our goal.  And we were interviewed for "In Focus" magazine (for retinal research) and that will be coming out soon.  A national look at our family and our efforts to raise awareness for LCA.  Once the article is out, I will share it with you.

Join us in our efforts.  Donate to Finley's team.  Walk with us in Visionwalk in October.  Spread the word about our family, our mission.  We are motivated more than ever to save Finley's sight.

 Look at the picture of the Haas family.  I want that to be us.  I want us to say Finley no longer has LCA.  To break the cane in half, and give back the brailler.  We cannot do it alone.

See you Saturday!


The Kovalls said...

I'm glad you came back with so much info and encouragement. That is great news about some of the cures - Finley is next :-)

Anonymous said...

Nice Blog - It won't be long 'till Finley and Bella are cured, and RDH12 is a thing of the past!

Mike fiore