Welcome to Rare Disease Week! This is a special week where rare disease advocates around the world work toward raising awareness and tackling issues surrounding rare diseases. CRBF will be in Washington, DC and at the National Institutes of Health in Bethesda, Maryland participating in the Rare Disease Day activities.

At the heart of the week is National Rare Eye Disease Awareness Day: Wednesday, February 28th.  Follow along with us here and on our Facebook, Twitter, and LinkedIn pages as we bring you the awareness activities CRBF is involved in to further our great work.  SPOILER ALERT: Rare Eye Disease AND CRBF will be featured on the biggest Rare Disease Day stage this week!  We’ll post more on that this week!

First up for this week:

CRBF President Kristin Smedley is featured in the prestigious Rare Daily, an online publication of Global Genes. Global Genes®  is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon®. What began as a grassroots movement in 2009 , with just a few rare disease parent advocates and foundations , has since grown to over 500 global organizations.   Click to read Kristin’s interview with Rare Daily.

Stay tuned for more on Rare Disease Week and National Rare Eye Disease Awareness Day!

WELCOME to a special blog post from CRBF President and Co-Founder, Kristin Smedley!

Want to know what HOPE looks like?

Hotel Irvine, home of the 2017 Global Genes Patient Summit

Imagine a hotel campus in sunny California where those affected by rare diseases have converged to share, inspire, enlighten and most of all, drive progress.  Lots and lots of progress to solve lots and lots of medical mysteries.  Here, there is more evidence of HOPE in one day than the entire Christmas season boasts.  With every slide deck, speaker’s story, and tweet quoting a presenter, HOPE fills the massive ballrooms and bursts through the doors of breakout rooms. HOPE fills the minds of scientists looking to create treatments for rare patients.  HOPE fills the hearts of funders  looking to help.  Most of all, HOPE fills every nook and cranny of the mind, body, and soul of a Rare Mom like me.

A Rare Mom. A Mom of children with a rare disease.  That’s me.  That’s lots of people here. There’s Rare Dads and Rare Grandmas and Grandpas here.  There are Rare patients and siblings here too.  We have all been given a diagnosis of a rare disease.  Some “lucky” ones have met or heard about other people in the world affected by their disease.  Some are the only ones known on the entire planet to be affected. And for just about every single Rare person here, there is no treatment, no cure, no answer for their rare disease.

But HOPE is abundant here, and so the journey for many Rare families is changing… for the better.

I’m at the Global Genes Rare Patient Summit.  I have been attending this conference for a few years and was so impressively overwhelmed with all the knowledge here that last year I started recruiting members of my Board of Directors to attend with me.  Our non profit, the Curing Retinal Blindness Foundation, is the  only patient organization in the world for our rare eye disease, CRB1 LCA-RP.  That’s not a very big deal here because, after all, most of the organizations represented here are the only of their kind around the globe.

CRBF team members at the Global Genes 2017 Patient Summit

Three of my team members joined me here last year – and we were so energized afterward, and our organization grew on so many levels, that this year there are eight members of our team here.  Eight people for a two day conference – the information is that abundant and more importantly, that valuable.

The theme of the Global Genes organization is “Hope, It’s n My Genes.” The conference attendees wear jeans to promote the “genes” theme. (Side note: I’d be interested to someday have someone count how many times the word “gene” is spoken here!) I don’t know if it’s the casual nature that jeans summon, or if it’s the beautiful California weather that inspires, but here, folks are cooperative not competitive.  They share instead of block information.  They listen.  They teach.  And they hug… my God is there a lot of hugging here! OK so I admit I’m one of the huggers, I just can’t help myself! I mean, when you meet a scientist that is dedicating his/her life to figuring out a rare disease, a disease they have no relation to,  can you really just shake their hand?  Or if you meet a Mom raising a rare kiddo just like you are and they get it… they really, really get it… is a high five gonna do that justice? As I attend each year I am hugging people I actually know moreso than complete strangers.  It’s not that I am holding back on giving someone I don’t know a big ol’ thank you bear hug, it’s just that many of the folks I have met here have become my friends. Close friends that know my journey, my hopes, my successes  and my epic fails.  And I know theirs.

And what happens when so much information is shared and so many relationships created?  Some might go into overwhelm and lose focus.  My team, however, spends a day locked up in a room to review every session note, every slide, every bit of information, every business card.  We compile all the notes and create our focus plan for the next year.  If you have followed our progress since we have been involved with the summit, you’ll understand just how much of an impact it has on our work.

I know how Rare it is to have two children affected by a rare eye disease.  I know how Rare it is  to have found hundreds of people that can help my work for this disease.  Above all, I know how very blessed I am to have the team that I have by my side, walking this journey from darkness to light, together.  Here at the Global Genes Patient Summit, teams like mine are not Rare… they are plenty.  And they, like my team, are moving mountains for rare diseases.

Kristin Smedley is President and Co-Founder of CRBF. She is also an author and TEDx speaker.  She originally planned to be a third grade teacher… and then two of her three children were diagnosed as blind.  In addition to growing the CRBF to reach patients and scientists around the globe, Kristin also shares her journey of raising her kids to not just survive challenges, but to thrive!  She speaks about blindness and resilience, and she just launched her new series teaching people to SEE: Set Extraordinary Expectations!  Watch her TEDx talk here and get info regarding her new book here.  If you are interested to have Kristin speak at your upcoming event, email her at curingretinalblindness@gmail.com or contact her here!