Wednesday, May 21, 2014

Up on my soapbox, Down on my knees

Finley's event in Massachusetts is just around the corner.  This year, on June 8th, we will hold our second annual race/picnic event for Finley and our foundation.  I have a love/hate relationship with these events, to be honest.  I love that we have so many supporters and friends who will take time out of their busy lives to attend our events, donate to our cause, volunteer to help us out.  And I hate it because I hate that we have to have it.  I wish with all of my heart that we didn't need to hold these fundraisers and that Finley had healthy eyes.

But there is no use spending time on something that can never be.  So we push forward.  I want to retell our story to those of you who might be new to us.  This foundation - this is Mat's and my baby.  We saw that no one was going to help our girl and anyone like her because it is just too rare of a disease.  We gathered some other wonderful families who had children with RDH12, and together we decided we could do this for our kids.

For those of you who are used to giving to charities, I want to be clear on a few things.  1) our charity is strictly run by our RDH12 families.  100% of the money we make goes to research.  We don't have overhead, or paid employees.  2) There isn't a bigger foundation that we give money to, or that will swoop in and "save the day".  We don't have a Jimmy Fund, a Susan G. Komen foundation, or any other big name that collects money all over the country for our kids.  WE ARE IT.  If we (meaning the RDH12 families in our group) don't raise the money for a cure, then our kids don't get cured.  Simple as that.  If we don't raise the 1.6 million more dollars we need for a cure, then our kids will go blind waiting.

There is no one who will save their sight but us.  Their parents.  This weight on our shoulders is so big, that unless you are holding it, you have no idea.  I get down on my knees every night and pray for a miracle.  But all I can do is wait and hope that we will get what we need, and Finley (and all the RDH12 kids) won't go blind.  They won't have to live their lives not being able to see their friends, their family, their children.  I can't bare it.

So.  These fundraisers.  (and my harrassing).  They are a necessary evil.  Every one of you would do EXACTLY THE SAME THING if you were in my position.  You would.  No one lays down and does nothing for their child.

I know everyone is busy.  I know that spring means sports, and end of the school year, and nice weather, and on and on and on.  I get that.  But we need you.  We need your help.  We have so many ways you can help us.

For one - you can come to our event on June 8th.  If you are in the area, please join us.  You can sign up online right here:

Or, if you want to mail me in a form, you can print one out here:

OR - if you aren't able to come at all, but still want to make a donation to our fund - you can do so here:  (either from your checking account or your credit card - SO EASY).

Every dollar matters.  It brings us one dollar closer to that enormous goal.  I cannot stress enough that we have no one else to help us but you.

Help Finley keep her sight.  And Bella, Abigail, Ben, Gabby, Bill, Lily, Raphael, Marie, Darius, Aiden, Rose, Joanna, Celine, Julie, Stijin, Ceci, Brooke, Anna, Riley.

Thursday, May 8, 2014

Take Me Out To The Ballgame

Spring sports have started.  Cainan is playing baseball this year, and Arlington her beloved softball.   They have been playing for a few weeks (yes it is TOO cold for ball) but we took some pictures at the their games this past week.


Arlington getting ready to bat.  Notice her outfit.  Her uniform is under all......that.  Somewhere.  It is cold, so she had her jacket on.  This year the girls have shorts for their uniform bottoms,which makes me sad.  We have about every color of ball pants they make now, and I thought we were good - and they switched to shorts.
 Up to Bat.

 She got a hit and was on base.
 Running in style.  If you can't tell, her socks are zebra stripes.
 Cainan played 2nd base this time.  It took him three innings before I finally called him over and told him that he didn't have to stand ON the base.
 He has the stance down.  He is a good little boy - the other boys play in the dirt and hit each other with their gloves, but he is all business.  Until his mind wanders.  Then he gets hit with a ball.....
 Up to bat.  He got two hits!!  Very proud.  He is TERRIFIED of the ball hitting him, so he swings......slowly.  He will be a bunter.

 He got to first base!
 He scored a run!

Wednesday, May 7, 2014

An update on the RDH12 Research

Last Monday, Mat and a few of our other LCA families had a chance to go to Michigan to speak with our RDH12 researchers Dr. Debra Thompson and Dr. Robert Ali.  It was a good meeting, and the researchers seeing the kids did a lot to motivate them to get moving.

Mat wrote a little blip that I posted on our RDH12 group on facebook, so I will add that here, and then a few pictures from the trip.  Only Finley and MAt went and I stayed with the other two.  They had a great time, and the kids getting together is so important.  I hope we can get them all together more often.

"On Monday, a number of RDH12 families traveled to the University of Michigan in Ann Arbor for a face to face meeting with Drs. Debra Thompson and Robin Ali. Dr. Thompson’s lab, with funding from the RDH12 Fund for Sight, has been developing a gene therapy for children with LCA due to mutations in RDH12. Dr. Ali is a clinician who was involved in the first gene therapy for LCA and has now partnered with Dr. Thompson to bring the RDH12 gene therapy to patients. Drs. Thompson and Ali provided a comprehensive review of all of the research they have conducted on RDH12 to date as well as their plans to get approval from regulatory agencies to start treating people. In addition, the families were given a tour of the laboratories at the University of Michigan as well as provided the opportunity to meet other researchers and clinicians working on retinal diseases. The message that was delivered to the visiting families was one of hope and promise. The current plan, as relayed in the meeting, is to have a meeting with the FDA in the fall of this year. This meeting is an important milestone for the program. It will determine just how long it will take before patients could be potentially treated. If the FDA responds positively to the data that Dr. Thompson and others have generated, it opens the door to filing for a clinical trial start. Once that happens, the next big hurdle and therefore the next big cost will be manufacturing the gene therapy in the quantities and quality required for use in humans. In order to make sure Dr. Thompson and Dr. Ali can seamlessly move to this next stage, the RDH12 Fund for Sight must be ready with the required support. And with continued backing of the RDH12 community of friends and family, we will hopefully be able to meet this goal. The meeting closed with a word of thanks from Drs. Thompson and Ali for the assistance of the RDH12 Fund for Sight. Without the grants that the Fund has been able to provide, we would not be talking about plans for a clinical trial and treatment for our kids would still be a distant dream. And of course, the RDH12 Fund for Sight thanks Drs. Thompson and Ali for their hard work on our children’s behalf and their continued dedication to this cause."

Dr. Thompson talking to the kids and adults as she shows them around the lab.
 Dr. Thompson's lab with the kids
 Dr. Thompson and Dr. Ali 

 The meeting
 4 of the kids that went.  Left to right: Abigail (age 9), Ben (age 8), Bella (age 8), Finley (age7).  Just 4 of the 19 kids we know about with RDH12.  When they are together, if you look closely, you can tell they all share the LCA defect.
 The rental car Mat and Finley had.  She loved it, so she asked Mat to take a picture

Tuesday, May 6, 2014

Last pictures from PA and Spring Break

Mat's sister's Jess and Teen visited us while we were at his parent's house.  Jess is PRE-baby in these photos (obviously).  As you see from my post a few days ago, little Olive has arrived safe and sound.  My sister in law, Teen, has officially announced that she is pregnant and due in November.  Those babies just keep coming!  By year's end, Mat and I will have 14 nieces/nephews.  Amazing.  I always wanted to be a part of a big family.

Enjoy the photos!

Arlington and Aunt Jessie a few days before Olive's arrival.  Doesn't Jess look amazing?
 Jess still wanted to have kids after spending all day with these three hoodlums.
 My niece, R.  She is 4 1/2 and turning into quite the young lady.  She is a cutie.  She had a fever, but she was still a spunky little girl!
 R and Pappy watching "Frozen"
 My soon to be Sister in Law, Allison.  I am so glad that Mat's brother, Zac, has found someone to spend the rest of his life with.  We absolutely adore her, and I am glad I won't be the only sister-in-law among the girls any more!  This is a big year in the Pletcher family - 3 babies and a wedding.
 R and Finley discussing "Frozen"
 My 16 month old niece, A, was hysterical.  She kept bringing Cainan this baby for him to feed.  He was a good sport about it.

 Arlington loved hanging with little A.  I think she is about ready to babysit.  She was really good with her.

 My kids and Teen's kids.  J is my 2 year old nephew - Teen's current middle child..

Sunday, May 4, 2014

Our days in Indian Head, PA

We spent half of our spring break with Mat's family.  Mat and I grew up in the same school district, which took in several small towns.  Mat's parents live in the "country" part of our district, and we love visiting there.  Here are pictures from there.