As far back as I can remember I loved playing teacher to my brothers – with four brothers I had a good sized class! I would hold “class” and give them “homework” in the back room of our basement where my Dad had mounted a green chalkboard to the wall. I loved to write on the board. I loved when they actually raised their hands to give answers to my questions. It was no surprise to anyone that I chose teaching as my profession. I enjoyed it. I was good at it. I had big plans to change the life of every child I was blessed to teach.
And then a rare disease happened - a rare eye disease to be specific. In the summer of the year 2000 my first born son was diagnosed with a severe, early onset retinal disease called Lebers Congenital Amaurosis (LCA). LCA affects an estimated 3000 children in the United States. Some of the patients have some usable vision. Some can only see light. Almost all LCA patients lose what vision they do have by their late teens.
In a tiny exam room, the doctor told me my son would never drive. He told me my son would not play baseball. And he told me to learn the tools of blindness and teach them to my son. And that was all I was told.
Like every other parent, I became my child’s first teacher. Unfortunately, like other parents of rare disease patients, I had to teach my child things I previously knew nothing about. I scrambled to learn a whole new set of skills to teach my son so he could participate in all the things children participate in. I had to learn Braille and teach him. I had to learn about walking with a white cane and teach him. I had to learn to navigate a system of early intervention services, medical insurance coverage (or more accurately non-coverage), individualized education plans, the list seemed endless. While other moms in playgroups and preschool were debating which picture books and wooden puzzles were the best, I was looking for high contrast pages and tactile boards. Instead of going to pick books off the shelves after story time at the library, my son would dig through a bag of Braille books I ordered through the mail. I stayed at every “drop off” playgroup since no one in my circles had ever met a blind child let alone been comfortable entertaining him. Having to learn about another new system or service every single day was exhausting, and frustrating, and felt so incredibly unfair.
But little by little my son taught me that he was (and still is) perfectly content in a world he cannot see. He was actually so happy that I didn’t worry too much when my second son was born and knew the possibility of his having LCA was 25%. If indeed we’d hit the lottery twice, I would be just fine, I told myself. “They will have each other”, I thought. “I understand the tools of blindness now” I reassured myself. “I got this”. Turns out I couldn’t have been more wrong. A second diagnosis is just as devastating as the first one. However, the “recovery” from the diagnosis was quicker. I didn’t cry as long, or stay up as late, or worry about his future as much. I had built-in proof that blind children can take in all that life has to offer; they just do it differently.
Nine years after our first LCA diagnosis we finally got confirmation of the genetic cause – a mutation in the CRB1 gene. As luck would have it, we got our genetic news at the same time that LCA hit the news media in a big, big way: researchers were having success in treating LCA patients with gene therapy – they were restoring vision in children with this rare disease. Nine years is a really long time to wait for a definitive diagnosis. But nine years earlier, I was told there was no hope whatsoever for a cure. Now, I had hope.
But my husband and I wanted more than hope for a cure for our guys - we wanted a plan. We wanted to know the plan for translating the gene therapy progress to our sons. We investigated and found the gene therapy success was specific to one gene, a gene that was not CRB1. So, like other rare parents that see a treatment within reach or at least as a possibility, my husband and I asked how we could make it translate to our boys.
And at that moment the mission of what evolved into the Curing Retinal Blindness Foundation was born. Luckily, I found other CRB1 parents that were just as motivated as I was to change the course of this disease for our children. And in a double dose of luck, we found specialists that not only agreed we could chart a course to treatments, they wanted to help us accelerate it. I had to learn about managing a non-profit. I had to learn about RFP’s and IRB’s, clinical trials and natural history studies, mouse models and grant funding. Luckily the rare disease community is home to some of the world’s greatest teachers, and I connected with many that would teach me the steps I needed to take to lead this mission: Our CRBF team of parents and professionals works to fund research that will ultimately lead to treatments and cures for CRB1 retinal disease.
Ironically, my family’s biggest fundraiser and the highest grossing event for CRBF, Bike the Basin, is run by a large committee of kids of all ages. I teach them about marketing our event, recruiting participants, coordinating volunteers and speaking to the public. Our committee meetings and community events involve lots of teachable moments and tons of fun… just like my classrooms always did.
My dream of being the best third grade teacher ever was extinguished when the rare eye disease CRB1 entered my life. But I find it no coincidence that I now I teach people on a daily basis about rare eye disease, and I motivate more children than I could have ever imagined to chase their dreams… with and without sight. Whether I am coordinating a small committee meeting or planning a keynote speech at a large conference, I follow my old lesson plan format to work out what needs to be accomplished. I literally have the world as my classroom and the numbers of people I now impact are far higher than I ever could have reached within the walls of an elementary school.
My life with two LCA-CRB1 sons and one sighted daughter is extraordinary. My work to understand and treat this rare eye disease is challenging, but progressing. To learn more about how my team is changing what a CRB1 retinal disease diagnosis means, please visit www.crb1.org Follow our progress on Facebook and Twitter . And please watch the following awareness video I created with help from my family and a very special production team at ShadowBox Pictures:
Kristin Smedley is a professional speaker and passionate advocate for rare eye disease patients and the blind and visually impaired community, and she writes a blog about finding the silver lining in life's dark clouds. You can follow the Eye Believe in Miracles blog as well as all of Kristin's work at www.kristinsmedley.com