Tag Archives: blind

Patients Now Have An Opportunity To Drive CRB1 Research and Advocacy

The latest development in moving research forward for CRB1 LCA/RP retinal disease involves a collaborative effort between the CRBF, Sanford Research, and best of all… patients!  The CRB1 patient registry is an opportunity for patients to help drive research and advocacy for this rare eye disease.  Here’s a short overview (with links to more in depth resources) to better understand the need and value in a patient registry.

What is a patient registry?

From the National Institutes of Health: A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Many registries collect information about people who have a specific disease or condition, while others seek participants of varying health status who may be willing to participate in research about a particular disease. Individuals provide information about themselves to these registries on a voluntary basis. For more info from the NIH regarding registries visit here.

Why is a registry important?

Visit the National Organization for Rare Disorders (NORD) website (link here) to see an interview with Medscape and Marshall L. Summar, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C. and NORD board member, where Dr. Summer discusses the importance of patient registries for rare diseases.

From the NORD website: According to Dr. Summar, registries can accelerate the process of treatment and help physicians address the big knowledge gap about what happens in the day-to-day lives of patients.  By better understanding what is happening with rare disease patients, “we can develop better therapies by understanding conditions and the long-term consequences of rare disease.”

Is there anything in addition to research for treatments that a registry can be useful for?

The CRBF is also using the CoRDS registry to collect data regarding living with this rare eye disease, specifically whether the patient is a Braille, large print, or regular print reader.  This information will help  families, educators, etc  advocate for services for younger CRB1 LCA/RP patients so they are equipped with the necessary tools to thrive in educational settings.

How can CRB1 LCA/RP patients enroll in the registry?

If you or a family member received a diagnosis of CRB1 retinal disease diagnosis, please visit the CoRDS page for CRB1 here and click Enroll Now.

The CRBF is proud to partner with Sanford Research and CRB1 patient families in this exciting step in our journey toward treatemtns and resources for this inherited retinal disease. For questions regarding participation int he CRB1 LCA/RP registry please send an email to curingretinalblindness@gmail.com

It’s Rare Disease Week: Please help Mitchell’s “adorable” face be seen around the world…

As my blog title says: EYE BELIEVE IN MIRACLES.  I do… whole-heartedly. How else can anyone explain the leaps and bounds our Curing Retinal Blindness mission has accomplished in less than 4 years?  How else can you explain the phone calls I get and the media releases I read regarding another person, another child, having their blindness reversed, their vision restored?  Some say it is science that makes that happen.  I say, and I know from being deep in the trenches of this for four years:  the miracle lies in the incredible support of donors and advocates, raising the awareness and dollars that we need to fund the science that we need to get the treatments that we need.

CRB1 retinal disease is a very rare disease.  There are only 300 children in the US with the most severe CRB1 disease (LCA) and only 8000 total in the world.  When a disease is THIS rare, a lot of time and attention goes into getting the word out to the world about it.  We need to get the word out to researchers that we have funds  for projects.  We need to get the word out to doctors that we have a support group for their CRB1 patients.  And we need to get the word out to the CRB1 affected families that we have more than hope… we have a plan: treatments and cures for CRB1 retinal disease.

You can help spread awareness of our mission so we can accomplish the goals I listed.  Please click the picture below to watch this 1 minute 28 second video of my youngest blind son (I have two) where he will tell you in his own words what this means to him.  And if you want to help even more, share it with your networks and social circles.  Together we can do so much.  Together we will cure CRB1.

**UPDATE: This was originally posted with the YouTube link… but two days later it was published on Ellen Degenerous’s video site, EllenTube!  Please share this link and help us get some great exposure for our rare disease! http://ellentube.com/videos/1-q9f3hj7m/

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The Eye Believe in Miracles BLOG is written by Kristin Smedley, mom of two sons living with blindness.  If you would like Kristin to speak to your company or organization about moving out of fear, past challenges, Out of Darkness and Into Greatness, send her an email at curingretinalblindness@gmail.com.   If you would like to Join The Mission to help fund cures for retinal diseases please DONATE here.    Together we can do so much.

I am the Baseball Mom I never thought I’d be

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I am a baseball mom.  I was at a bunch of stores this week getting the right cleats and a new glove for the start of the new season.  I went through the drawers and bins to be sure all the baseball pants are ready and all the “cold gear” and “heat gear” are set.  I have my blankets and bleacher cushion and super-mega pixel/zoom/zillions-of-frames-per-second camera ready to go

My baseball son is 10, and this is his first year in the “big league”: they can finally steal home and there are playoffs, which means…. cue the Rocky music… there is a Championship trophy at stake!

Yep, I am a baseball mom…but there was a time when I never thought I’d be one… and for my older son, my baseball mom days are over.  So I am gonna ride this baseball wave like the proud, excited, happier than ever cheering mom that I am… just as soon as I get over my start of the new season nerves.

You see, my baseball son is blind, not completely “in the dark” blind, but so blind that he can’t see how many fingers you are holding up when you stand just a couple feet away from him.  And like his older blind brother years ago, he is on a “regular” baseball team in the league where all his buddies from his “regular”” school play.  Yes, there are blind sports programs and my sons participate in them.  But my guys also want to be able to take the same field as their buddies, and trash talk at school about teams that “cheat” and umps that “stink” and dugouts that are “cool”.  It’s a kid thing… not a sighted kid thing, just a kid thing.. and my guys want in.

Although he is in a league where the kids outgrew a batting tee a long time ago, my son has to hit off the tee because he can’t see a pitch coming to him.  He runs the bases utilizing a coach’s voice calling him.  And he plays the outfield with another teammate: the teammate fields the ball, hands it to my son, and the player awaiting the throw gives him a sound cue for a throwing target.

After weeks of snow and rain cancelling all baseball warm up activities, we finally had the first scrimmage game  and I was likely the most nervous person in town.  I was nervous about the kids accepting a blind teammate.  I was nervous about the parents accepting a blind player.  I was nervous the coaches would give my son a “sympathy” try here and there but not fully include him.

I sat shyly on the bleachers chatting a bit with parents and awaited the question I dread, “Which player is yours?” I tried saying “Mine’s the short one”, but this year there is actually a player shorter than my son.  I tried to say “Mine’s the one with the big mouth”, but there are lots of big mouths on a team of 10 to 12 year old boys.  So I figured I may as well get it over with: “Mine’s the blind guy.”  Maybe it’s because my family has been in this community so long, or maybe the coaches talked to the other parents about my son, I am not sure the reason, but parents on this team didn’t give a raised eyebrow, they didn’t have a look of “OMG”… they simply smiled with a “that’s cool” kind of look and then let me know which son was theirs.  Wow, my nerves were calming a bit.

No sooner did I calm down, the game started and first to walk out of the dugout and up to bat… my son.  The tee was set.  The fielders took their “ready position.”  My son gently ran his hand over the ball on the tee and lined himself up to swing at it.  My heart was pounding and I could barely breathe.  You see, I know everyone wants their kid to get a hit.  I know everyone wants the team to win.  I couldn’t have cared less about most of it at that moment: for me, if my son misses, there is the fear that folks are thinking “Oh bless his heart the poor blind kid can’t see the ball”  And if he misses there is the fear that the teammates are thinking “Oh great, we have a blind kid messing up our lineup.”  I feel like the “changing what it means to be blind” mantra of our family is at stake.

Up at the plate, my son pulled the bat back and with his mighty swing he hit the ball… and he hit it hard. It was a hard grounder to the shortstop.  My son learned years ago that a ball can only go so far when hit off a tee… so he learned to run really fast to beat the throw to first.  And this time, he ran faster than ever… and he beat the throw to first!

The teammates in the dugout went crazy, as they always do for a guy that gets a hit… and hearing them cheering “Way to go Mitchell!” made my heart skip a beat.  Mitchell’s proud, excited smile is all I can think about.  He did it.  He helped his team and they are proud of him… and he is proud of himself.

Mitchell went on to hit a pop fly his second at bat and a single into center field on his final at bat.  He played all positions in the outfield and sat the bench in the rotation, just like every other player.  The other players guided him when he needed it  and laughed at his dumb jokes, just like every other player.

At the end of the game, the other parents did not say “Oh good job for the blind guy.”  They did not say “Good hits off the tee.”  They all said “Wow….  He can run really fast!” Imagine that… I was so fixated on making sure my son could keep up with hitting and fielding like everyone else, I forgot that he has an incredible talent that makes him stand out as a player, not a blind or sighted player, just a player.

PS – My older son, Michael, used to play but due to his blindness it isn’t safe for him to be on the “regular” field anymore.  Although our family is working to find a cure for this blindness, it likely won’t be ready in the three years my 10 year old, Mitchell, has to play in this competitive yet inclusive league.  So if you see me cheering a bit loudly or notice tears of joy spilling down my face, know that I am savoring every single second of being a baseball mom 🙂  And I hope every baseball mom cherishes the fact that their child can play, whether they are a superstar or not 🙂  

Meet my son Mitchell and our family at our fundraising site for the Curing Retinal Blindness Foundation  www.bikethebasin.org