Earlier this month CRBF was able to share our mission at Novartis Pharmaceutical in Boston.  Novartis now owns the rights to Luxturna, a gene therapy that treats LCA-RPE65 blindness, in all countries outside the United States.  After meeting at a large life sciences conference in 2019, CRBF CEO, Kristin Smedley, and Novartis VP, Global Head of Translational Medicine-Ophthalmology, Melissa Lieu, worked together to create an informative presentation about living with blindness for Novartis

The presentation was informational and inspirational.

The CRBF team realizes the importance of research.  It is the reason we started our mission in 2011.  However, we quickly realized the need for resources for blind children and adults to live independently and to thrive without vision until the day an option for sight is available.  The CRBF funds research, raises awareness about resources for living with blindness, and changes perceptions of blindness. It’s no small feat to work a multi-faceted mission, but it’s important work that we are committed to.

In an effort to educate the Novartis audience on different perceptions of people that are affected with blindness, Kristin invited two extraordinary young men to help deliver an exciting program.  Her oldest blind son, Michael, is a twenty year old college student.  Michael is blind due to LCA-CRB1.  He is thriving at Penn State University and succeeding without sight in all areas of his life.  Christian Guardino is a twenty year old recording artist and America’s Got Talent finalist who was born with LCA-RPE65.  Christian received Luxturna (gene therapy) that restored much of his vision.  Christian is succeeding with sight in all areas of his life.

Kristin opened the presentation at Novartis with a compelling speech enlightening the standing room only crowd about how a person that is blind can do just fine if there is access to tools and resources for literacy, independence, etc.  She also presented the financial impact that raising two sons with a rare blidnness has had on her family. Michael demonstrated the technology he uses every day to access his schoolwork, navigate a very large campus, and have a vibrant social life.  He wow’d the crowd with the speed of his “voice over” feature on his iphone and had everyone in awe of just how much he accomplishes in a day – which is an overwhelming amount regardless if you are blind OR sighted! Christian articulated what life was like before and after gene therapy.  His story of seeing the moon for the first time brought the audience to tears. And when he performed his rendition of “Rise Up” he brought the audience to cheers in a standing ovation.

The most compelling part of the program, however, was the panel at the end of the program where each of the young men expressed the joy that each of their lives are.  They are living exactly how they want to live, one with vision, one without.  They are equally enjoying their lives and having extraordinary success.  Best of all, the underlying message received by all was that both of the young men are very grateful to those that work towards treatments as well as those that work toward accessibility. 

To round out the day, Kristin pointed out that her role in this organization, and as a Mom of two CRB1-LCA patients, is to coordinate research for options for sight, in addition to connect to resources to thrive without sight.  It is our role, in her opinion, to give the patients options and respect their choice of which route they wish to take.

 If you are wondering what the audience at Novartis thought of the program:

  “unforgettable and inspirational”

“Incredibly moving and inspirational.”

“Thank you all for an amazing inspiring event. You thanked us for what we do but we owe you tons of thanks for making us know that what you do can make a real difference in people’s lives. And I loved witnessing all of your amazing talents!!”

“Such an inspiring and motivating event for us scientists!”

The CRBF is so grateful for the opportunity to share this presentation at Novartis and incredibly grateful to the LCA and inherited retinal disease community for always jumping in to collaborate and spread awareness TOGETHER!

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/