For Rare Disease Day 2014 tomorrow, I’ve asked Kristin Smedley, president and co-founder of the Curing Retinal Blindness Foundation, to guest post. I introduced her here last year, Rare Disease Day: What 5 Kids With Low Vision Can Do. Kristin and Mike’s sons Michael and Mitchell have the CRB1 form of Leber congenital amaurosis. CRB1 is an acronym as well as the name of the errant gene.
The Internet has been absolutely wonderful in bringing together families, with the same or different genetic disorders, facing similar challenges — and conquering them.
“Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.” Margaret Mead
CRB1 degenerative retinal disease is a rare disease, affecting an estimated 300 people in the US. Yep, it is THAT rare. It causes visual impairment that eventually degenerates the retina to total blindness. Although some characteristics are similar, it is not as “popular” as macular degeneration, and isn’t prevalent in the “Baby Boomers” population — so you’ve likely not seen CRB1 in the headlines … yet.
A group of CRB1 families is working to change that, to literally put CRB1 in the headlines to get the attention it needs, to fund the science to treatments and cures. I lead this group, and in less than three years since we launched our effort, we’ve already hosted our first research symposium, formed a stellar scientific advisory board, funded our first 5 grants for CRB1 research worldwide, and have started locating CRB1 families all over the continental US and abroad. And we aren’t stopping. With a goal of multiple treatments for CRB1, we have work to do.
So how can parents not formally trained in genetics or ophthalmology carve out a path, multiple paths, to treatments and cures? For starters, motivation is key. When you are in the depths of blindness every single day with a child, it is easy to “see” where the motivation of the CRB1 families comes from. Take my family for instance.
I have two sons affected.
Two sons who want to be baseball pitchers.
Two sons who want to be quarterback.
Two sons who want to drive. But due to this rare disease, they can’t … at least not yet.
When my husband and I were finally given test results that confirmed our oldest son has the CRB1 genetic disease, we immediately started asking if there was something we could do to get research going. Circumstances led us to some miraculous connections:
We had the opportunity, the blessing, to meet some folks who had just opened the door to gene therapy for a genetic blindness like CRB1: Dr. Jean Bennett and Dr. Eric Pierce. And then I met families working to open the gene therapy door for their form of blindness like CRB1: Jennifer Pletcher of Finley’s Fighters and Jennifer Stevens of Gavin’s Groupies. I even had the good fortune to connect with Ricki Lewis, author of The Forever Fix, and through her met the super-mom Lori Sames of Hannah’s Hope Fund. All of these connections gave us inspiration, and concrete ideas, for our CRB1 families to move, in a BIG way, to plan our own path to treatments and cures.
Obviously parents are quite motivated, but motivation can only carry you so far. We need to progress quickly. Time is not on our side as our kids that still have vision are losing it every single day. We can’t afford to reinvent the wheel, or waste fundraising dollars. So we look for every opportunity to collaborate, to partner with others who have a resource we need or a means to a resource to get what we need.
We needed to build a Scientific Advisory Board to help us utilize every dollar efficiently and effectively, so we went to a conference dedicated to our sons’ umbrella disease, Leber Congenital Amaurosis, and approached every single presenter, and asked them to help.
We needed to establish a solid 501(c)3 non profit organization, so I contacted the highly regarded National Organization for Rare Disorders for guidance.
We needed to find out what government resources are available to us and what issues we should deal with now in preparation for the eventual clinical trials, so we traveled to Rare Disease Day events to connect with the National Institutes for Health and other fantastic organizations.
We needed to connect with the best researchers in the world to invite them to join our mission and help move the science forward, so we attended to the Association for Research in Vision and Ophthalmology annual meeting to connect with brilliant scientists. And now, as we are looking to find as many CRB1 patients as we can, we are proud to be working with the Foundation Fighting Blindness to establish a CRB1 patient registry.
Since we utilize every opportunity to network and gather resources, it’s not surprising that our fundraising is growing and our outreach is spreading every day. Research teams are now contacting us to help. And last week within a 7 day span, I was contacted by families in Puerto Rico, Belgium, United Kingdom, and Mexico, all of whom have received the devastating diagnosis of CRB1 retinal disease and are looking for support … and more.
Just like me 14 years ago, when I got the first of two diagnoses, these families are looking for Hope. There was no Hope just over a decade ago, but we created it.
Families now have Hope when they connect with others with the same disease.
Families now have Hope when they are able to read through a list of descriptions of research being conducted on this disease.
Families now have Hope knowing that our group is dedicated, and our scientists are dedicated, and our supporters are dedicated to SEEing this all the way through to the cure.
“Alone we can do so little. Together we can do so much.” Helen Keller
Read Kristin’s blog “Eye Believe in Miracles”
Rare Disease Day 2014: A Parent Fights to Cure Blindness by PLOS Blogs Network, unless otherwise expressly stated, is licensed under a Creative Commons Attribution 4.0 International License.