Guest Blogger - the Fiore Family

I have decided to have some guest bloggers from time to time.  I would like you to get to know more of our RDH12 family and more of our LCA (Lebers Congential Amaurosis) family.  We have met so many wonderful people along our journey with Finley that I feel it necessary that their stories be shared as well.  I want you to see that - along with Finley - these are the people we are fighting for.  We now know 12 children with RDH12 and I am hoping to get the majority of their to come on here as guest bloggers to share their personal stories so that you can see other children like Finley.

Without further ado, I would like you to meet Bella.  We met Mike and Maria - her parents - at the 2010 LCA conference in Philadelphia and soon after had a chance to meet Bella.  They have done a vast amount of fundraising for our RDH12 Fund for Sight.  We are so glad we know them and we have them beside us in our fight to cure our children.  Here is their story.

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Bella and her Special Eyes

 Bella is our oldest child.  She is currently 6 years old, and she has a younger sister Ava and a younger brother Anthony who are almost 4 years old and are twins.

    We live in Syosset, NY, and most of our family and all of the grandparents are within 30 minutes of us.

   When Bella was about 3 years old we started noticing some very peculiar things with her eye sight.  For 
one, she was VERY cautious about going down steps.  Also, she was very cautious about transitioning from one type of floor to another.  For example, if she was on the lawn, and she came to the sidewalk, she would take that step with a lot of hesitation.  The same thing would occur going from carpet to hard wood.  In the spring of 2009, during our Easter egg hunt, she had a difficult time finding the eggs.  At this point, knowing that Bella’s mom has some pretty thick glasses and poor eyesight herself, we decided to take Bella to the eye doctor for some glasses.

 It was now early summer of 2009, and Bella and her mom went to the pediatric ophthalmologist.   Within 60 seconds of him looking into her eyes, he said “Something is very wrong with her retinas.  Is there a history of eye disease in your family?”  Maria called me at work while still at the Dr.  She also called her parents, trying to find out if we have some history of eye disease.  There was none, at least none that would apply to what Bella was showing.  The Dr gave us some opinions about what she may have (Leber’s, RP, even some sort of infection which was attacking her Retina), and told us to go see a Retina specialist who would be able to help identify this.  

 At this point, to say that most of our time was spent on the internet googling these diseases and the terrible outcomes would be an understatement.  There was definitely some denial, and hoping that the Dr. was mistaken.  There was no way we could believe that our daughter was going to go blind.  In July of 2009 we saw the Retinal Specialist.  He took pictures, spoke to colleagues, and brought numerous others in to look at Bella’s eyes.  After the visit he told us “your daughter has a retinal deisease, it is most likely genetic, I think it is Lebers Congenital Amaurosis, but it might not be.”  He wanted us to go into Manhattan to Mt. Sinai hospital and meet with someone who would give Bella an ERG.  This test would determine if her eyes were converting light into electric basically.

  It was now August of 2009.  Our summer was not going so well.  We still didn’t know what was wrong and what to blame, and all we knew was that Bella’s eyes didn’t work so well, and might get a lot worse.  We went to Mt. Sinai hospital and met with another specialist.  He performed the ERG on Bella, and the poor thing had contact lenses with electrodes attached to her eyes.  Not an easy thing for a parent to witness.  But, she was a total rock star.  She, thankfully, really enjoys going to doctors.  When he was done, he told us “Your daughter has LCA, her ERG is extinguished and she doesn’t have much vision at all.  Her vision is good for someone with LCA, but it will probably continue to get worse as the years go by.”

That was it.  He said there was no cure, there wasn’t much research being done, and there wasn’t much we could do.  We left the hospital, which for those that don’t know is right next to Central Park.  We took Bella to the Central park zoo, and proceeded to use about 200 minutes of our cell phone time trying to explain what just happened to our families.  We were still very confused.........

 After about a month or so, we decided to get Bella genetically tested to confirm if she really had LCA.  We were planning on sending her and our blood samples to the University of Iowa.  But part of us was still confused by all the different things the doctors were telling us.  So, we decided to go directly to the U. of Iowa and see the doctors there who were researching LCA.  It was February of 2010, and we left NYC in a blizzard and landed in the midwest in a blizzard.  We saw Dr. Ed Stone, and Dr. Arlene Drack at the U of Iowa.  They were both working on a project call Project 3000; an attempt to find and identify all of the people in the US with LCA and their different mutations.  We were at the hospital for about 8 hours.  Bella again was a champ and took it better than us.  We left Iowa after giving blood, and we were told, by the experts “We’re about 60% sure Bella has LCA, but we can’t be certain because she is showing some signs of an autoimmune response infection, and we need to rule that out.”  Ok, so now we’re headed back to NY, not sure what to tell the grandparents and Bella still doesn’t see very well.  So we waited and waited, and in April, Iowa called and said that Bella was negative for the “infection.”  But they’re still not sure about what type of LCA she has.

 In May of 2010, we were in Disney World, at the Lion King show in Animal Kingdom when our phone rang.  It was Dr. Drack, and she told us that Bella has RDH12 LCA.  We were relieved to finally have a definite answer.  We were now going to try and see what we could do to help our daughter.

 The first thing we did was check Ava and Anthony to see if we passed this on to them.  Thankfully we did not.  At this point we were over the initial shock of knowing that Bella would most likely loose her vision and go blind.  That terrible phase lasted about 6 months I think.  Now, we were in the pro-active phase and we were going to do everything we could to help Bella.  

 We started plans for a golf outing fundraiser in the summer of 2010, hoping to raise money for LCA research.  Two weeks before the golf outing, we went to the LCA conference in Philadelphia, not sure of what exactly to expect.  We met some wonderful people, and learned about some exciting research.  By Saturday night, we knew that raising money for LCA was important, but we wanted to make sure a cure for RDH12 was happening at the same time, and we didn’t get that impression from the first day of the conference.  By Sunday morning, we met Mat, Jennifer, Bill, Ginny, Louis and Lulu, and the RDH12 Fund for Sight was born!

    I can’t describe how relieved we felt driving home from the conference having met other parents going through the same thing as us, and all equally excited and wanting to make a difference about it.  We were thrilled to tell our friends/family back home about our plans.  

    We started a group called Bellas-Buddies (www.bellas-buddies.com), somewhat of an off-shoot of Finley’s Fighters, with the same basic concept.  We hold a dinner dance in the spring and a golf outing in the fall.  Between the two, we plan on raising $50,000 - $60,000 a year for our Fund.  

    Bella is in 1st grade now; her eyes have not gotten much worse.  She wears transition glasses to protect her from the sunlight.  She is night blind, she see’s nothing in the dark, and she has zero peripheral vision.  Her right eye is about 20/50 and her left about 20/150.  She is considered legally blind.  She’s learning braille as well as learning to read and write, and she wants to sing and dance like lady gaga!

    She’s a typical little girl, and she’s doing well, but her eyes are a little special....

Mike & Maria Fiore