Tag Archives: lca

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.