Tag Archives: CRB1

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.

Sometimes we just need a simple change in direction…

IMGP2703I guess it’s actually 10 years ago that my oldest son was starting Kindergarten.  He was so excited… preschool had been a breeze for him and it was great social fun for my guy that loves people so much.  Although my son is almost completely blind, we chose to put him in our neighborhood public school so he’d learn how the world works… and we lived in a district that had proven success with special needs students.

I was steadfast in my “he is just like everyone else so let’s treat him that way” mantra.  He had to do the work that everyone did.  He had to figure out where things were in the school like everyone else.  And he had to take the bus to and from school: we practiced walking to the bus stop and he learned the sound cues for when it was time to get on  and off the bus.  This is something that blind and visually impaired people don’t just practice once or twice: an instructor came to the house over the summer to walk the route with my son.  He and I would walk it as well and practice what he learned.  Although the bus stop is only about 6 houses down from ours, he had to learn how to pause at driveways to listen for cars, he had to learn to follow the sidewalk with his white  cane and know the cue from that cane if he veered into the grass, and he had to learn how the corner was shaped, where the bus would stop, and how to cross the street at the right spot to stay in the bus driver’s view until he found the door and got on.

Yes, lots of things to figure out, but luckily my little pint sized happily motivated guy  was excited to learn and figured it all out pretty quickly.  He was perfect at walking the route, waiting for the bus, and cautiously but confidently crossing the street to board.

But that was only half the transportation challenge: there was also the arrival back home after the school day.  Think about those school buses and what the kids sound like at the end of the day.  The yelling, screaming, laughing, etc  makes for one loud vessel of kids anxiously wanting to get to their stop and off to the world to play.  My son had to tune them all out and count the times the bus stopped and turned so he’d know when it was time for him to get off.  When it was time to get off the bus, he’d have to navigate the pushing and shoving and make his way down the big steps and out to the street, cross the street, and head home.  He handled most of it with ease… until the crossing the street part.


For the first few days of school I met my son right at the bus door and crossed the street with him.  But I will never forget the first day I waited for him on the other side of the street, anxious to watch him cross because he was so confident he could do it, and I was confident he could do it too.   While he was crossing in front of the bus, one of his great friends, who had more energy than a busload of Kindergarteners, was SO excited to tell my son all about something that happened that day.  He was so loud and so animated that my son lost all sense of where things were in the street and where he was in relation to the bus.  He froze.  Right in front of the bus he froze.  My heart stopped as the driver started to turn off the flashing lights… which meant that metal bar that protects kids from being out of the driver’s sight was closing, and my son was standing there.  Did she see him? My heart pounded, I was 20 feet away… could I get to him in time?  Desperate, all I could think to do was scream.  A from the gut kind of scream that made every kid stop in their tracks.  I ran in the street and grabbed my little guy, and hurried him to the sidewalk.

I tried to explain to the other child how he has to calm down and let my son cross before he starts talking… but I knew the reality was that a Kindergartener is not exactly reliable or even equipped to exit a school bus calmly.

I felt so defeated.  I couldn’t make something as simple as getting off the bus work? I was exhausted from all of the other stresses of raising a blind child in a sighted world.  I was exhausted from trying to stay a step or two ahead of his needs at school and have things ready.  And, to be perfectly honest, I was still in the depths of sadness that my son would have a year full of challenges far greater than any of the other kids he rode that bus with.  So instead of thinking it through logically, instead of taking a breath and figuring out how to make exiting a bus stress free and successful, instead… I panicked.

Luckily, I live in a neighborhood where you can call someone and tell them your problem and they help you fix it.  No judging,  No pitying.  They just go into action here.  So looking for a shoulder to cry on and, more importantly, a solution,  I called my neighbor.  I sobbed through my story.  I asked her if I was just asking my little guy to do too much.  I asked if I was being ridiculous in making him take a bus when I could drive him.  And I asked her if my expectations of a “normal” life for my son were just too much.

Once she calmed me down and assured me he HAD to take that bus, for all the reasons of independence training that I planned for, she had one simple answer:  ask the bus to go in the other direction.  You see, we live on a circle.  When you enter our neighborhood and come to my street, whether you go left or right you end up where you need to be.  Ah ha! So simple!  If the bus would just go to the stop from a different direction, it would arrive at the stop with the door right next to the curb he ultimately had to get to, and my son would not have to cross the street when he got off!

I am happy to say I made one quick call to the transportation office and they wholeheartedly agreed it was a terrific plan.  From that day on my son took the bus to and from school with great success.  Over the years he has mastered after school buses, team buses to away games, he even navigates the big city transit system near us.

I often go back to that “bus incident” when life challenges seem so complicated or a situation seems hopelessly unresolvable and I think “Will a simple change in direction help me?”


The Eye Believe in Miracles BLOG is written by Kristin Smedley, mom of two sons living with blindness, as well as a sighted daughter .  The Smedley family co-founded the Curing Retinal Blindness Foundation and host the largest CRBF fundraiser, Bike the Basin.  If you would like to Join The Mission to help fund cures for retinal diseases please DONATE here.    If you would like Kristin to speak at your upcoming event, send an email to curingretinalblindness@gmail.com  Together we can do so much.