Category Archives: BLOG

pictire of a sunrise with the words "Lets Rise 2020" on it and the CRB1.org logo

Our “One Word” for 2020

You may have heard about the “One Word” movement. If not, basically, instead of making a New Year’s Resolution (or for many it’s in addition to the resolutions) you choose one word that you will focus on for the entire year that ultmately guides your focus. Last year Melinda Gates chose “grace”. Jon Gordon has used words like
PURPOSE, SURRENDER, SERVE, PRAY, as his One Word in past years.

When a family receives a CRB1 LCA/RP diagnosis, “devastated” is the one word that is used most frequently in the emails, Facebook posts, tweets, texts, and phone calls to family, friends, and us, the patient organization for this disease.  Indeed, for parents it is devastating to hear that their hopes and dreams for their child have been extinguished, and fear sets in deep into their DNA, as they try to imagine a life of blindness when they likely have never even met a blind person.

When you receive a challenging diagnosis, the news hits hard.  But when you receive a rare disease diagnosis, you enter a world where there are no Hollywood stars calling attention to it, there are no Super Bowl commercials raising money for it, and there are certainly no support groups at churches far and wide to help you navigate the journey.   Hopeless.  That’s the second most used word these families verbalize and experience day in and day out.

And then along comes a group of families that want to change the journey for these patients, to change the one word from “devastation” and “hopelessness” to  COMMUNITY and THRIVING and… HOPE.

That is what the CRBF team that leads this patient organization is committed to bringing to all families diagnosed with CRB1 retinal disease: Hope… by way of research, resources, and most of all… connection.

CONNECTION is our One Word for this year.

The CRBF team has been entrenched in the medical research community for nine years, specifically the rare eye disease research community, to explore possible options to cure CRB1 retinal disease.  There are many facets to a disease like CRB1 and when looking at potential treatment options, there are a multitude of factors that have to be figured out.  You have to determine the “tell-tale signs” of the disease (biomarkers).   You have to determine the onset point of the disease and plot out how it progresses (natural history study).  And when the miraculous part of the journey comes and you have to design a clinical trial to test therapies to halt and possibly reverse the disease, you need to determine what a good, meaningful outcome is to measure if a therapy works (endpoint).

That’s the science side of this mission in a very small read-this-post-in-one-coffee-cup nutshell. Our team has coordinated an effort for research that has moved further and faster than anyone ever expected.  Yet, if you know science even a little bit, you know that science moves at an incredibly slooooowwwwww pace.  So what about the “in the meantime”, the in-between years from diagnosis day to treatment day?

A few years ago, our CRBF team added a focus to our mission:  connecting our CRB1 families to resources for living, or more importantly, thriving with blindness.  It started quite simply with adding some resources to the website and talking on the phone with newly diagnosed families.  We also created a private Facebook group where families ask questions and share resources.  As many, many folks affected by rare disease know, connection to others like yourself, walking your walk, living your daily struggles, is likely one of the very best resources in moving out of devastation and into thriving.  To that end, we are stepping into a much more dynamic and information packed facet of our work to support our families through connections throughout our CRB1 community. 

Here are some ways we are working to connect our families to each other and to the information they need:

  • CRB1 family meet ups (USA) – we are planning three family meet ups (East Coast, Midwest, West Coast)  The first of these will happen in tandem with the National Organization for Rare Disorders annual summit taking place at the Rock and Roll Hall of Fame in Cleveland, Ohio in April.  Additional USA meet up dates and locations will be released soon.  (Events in Spain and the UK are being planned as well!)
  • CRB1 Knowledge Portal – our brand new website will welcome this  incredible new resource (in Phase 2 of the re-design) to give families, patients, specialists, educators, researchers, etc a place to go to learn more about the disease and the people affected by it.

In this new decade our theme is “LET’S RISE.” We will rise together in the new decade.  Together.  All affected families.  Supporting research for vision and resources for thriving. 

The CRBF is committing in 2020 to help our families RISE through Connection.  Please get in touch with us at CuringRetinalBlindness@gmail.com to let us know how we can help you connect to our mission.

For more information on the One Word philosophy, visit
http://jongordon.com/blog/choose-your-one-word-2020/

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

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