EDITOR’S NOTE: It has been such an honor working with Lanya McKittrick, Krista Vasi, Dan and Annie Arabie, and other members of the vibrant Usher syndrome community. ThinkGenetic is delighted to partner with the Usher Syndrome Coalition to increase awareness of Usher syndrome and support Usher Syndrome Awareness Day. I encourage you to join Lanya and her organization in spreading their mission today, on their awareness day. I truly believe in the power of the internet combined with an individual’s drive for change can create magic. #community – DJL
By Lanya McKittrick, PhD, Mother of four boys, two who are living with Usher syndrome, Board Director of the Usher Syndrome Coalition, Co-founder of Hear See Hope Foundation, special education researcher focused on deafblindness.
Usher Syndrome Awareness Day is September 21st, a day that I look forward to each year. It’s a day that my social media feed is filled with hope and a strong sense of community. It is also a time for me to reflect on our family’s journey and all that I am thankful for. A time when I recognize how important the Usher syndrome community (our “USHFamily”) is to our family.
My life changed one day in Fall 2004. I remember that day vividly and play it over in my head, even years later. It was a day that we were told that our now 20 year old had Usher syndrome and would someday go blind. Usher syndrome, I would come to find out, is a rare genetic disorder that is the leading genetic cause of deafblindness. That day, my husband and I felt shocked, alone, and above all, scared. The ophthalmologist who diagnosed my son had no answers because he had not treated any patients with Usher. He could not tell us when our son would go blind, or give us any specifics. We had no one to turn to. We didn’t know a single family or person with Usher. There are days that I still feel scared about what the future holds for our two boys, but I am thankful that our family has a strong network of support. We no longer feel alone in this journey because we are part of the larger Usher community.
Our story is not unique. Usher syndrome can be profoundly isolating. Too often, people are told that they are going to go blind, there are no treatments, and nothing can be done. To make it worse, they are told that Usher syndrome is so rare that they may not meet anyone else affected.
In 2008, the Usher Syndrome Coalition was founded out of a need to raise awareness for voices unheard. At that time, families like ours had nowhere to turn to find information about Usher syndrome, and Usher researchers worked in silos, often unaware of the efforts of other Usher researchers. The Coalition began as an informal collaboration between a small group of scientists and families, devoted to building a network of support for patients and their families, and to improve communication among scientists.
Today, the Usher Syndrome Coalition is the most comprehensive resource for the Usher syndrome community. The Usher Syndrome Coalition represents families on every continent and collaborates with researchers from some of the finest international organizations in the world. In the spirit of collaboration, the Coalition was thrilled to have joined the ThinkGenetic Advocacy Program this past August.
From Isolation to Community
In the early days after our son’s diagnosis, we struggled to find information about Usher and we grieved about what the future would be like. We had so many questions that we didn’t have answers for. Would our son be able to see his future children smile? Would he be able to work? Would he be able to live independently? How fast would he lose his eyesight? As we grieved, we hoped every day for a support network. We tried hard to find other families but it wasn’t for a few years until we met another family who had a daughter who was also recently diagnosed with Usher syndrome. We quickly realized that we both had the same goals: a desire to be able to tell our children they would not go blind; a desire to know that our children will lead happy and fulfilling lives. Meeting this family changed our lives for the better. The idea for creating the Usher Syndrome Coalition was a result of that meeting and that relationship. Collectively, we wanted to lessen the feelings of isolation felt because of this rare disorder that would someday rob our children of their eyesight. We wanted to build a network of patients, families, and researchers that would stand with us someday as we hear the words “We finally have a cure”.
Building Community Leads to a Cure
In 2004, when our oldest son was diagnosed with Usher syndrome, a cure was, unfortunately, not within reach. We immediately started raising awareness and fighting for a cure. In 2008, our life took another unexpected turn when our fourth child was also born with Usher syndrome. We again heard those words, “Your son will someday go blind.” It is never easy to hear those words, especially when we were still grieving from our other son’s diagnosis. This time, however, because the Usher Syndrome Coalition now existed, we had a community of support to get us through the difficult days. And, more importantly, we had HOPE; hope for a cure and knowledge that our boys would be okay.
Our family has been raising money for research since 2004. We always have held great hope for a cure but we have always been careful not to over promise that to our children. In the last five years, there have been significant research advances in the fields of gene therapy and stem cell therapies. So much progress that now when we visit the ophthalmologist every year, the appointment is filled with hope and not just focused on the loss of more vision.
This hope would not have been possible without a strong community. When I say “strong community” I mean families and adults who live with Usher who support our family each and every day when we experience good and bad days. It is those adults who serve as mentors to our children. I mean the researchers who have committed their careers to finding a cure for Usher syndrome and who see us as real people who are part of a strong community. We are close to a cure. I feel it more now than ever. But, we need more support. That is why I am excited that the Usher Syndrome Coalition is partnering with an organization like ThinkGenetic.
Over the last 15 years, there have been significant research advances that would not have been possible without connecting the Usher community and researchers working towards treatments. The Usher Syndrome Coalition is bridging this gap by fostering collaboration amongst researchers and growing their USH Trust registry. This growing collaborative network is accelerating research towards treatments and a cure for all types of Usher syndrome.
This year’s Usher Syndrome Awareness Day is different for me. This time, in addition to being thankful for our community and for the Coalition, I am filled with more hope than I have ever felt before. We need partners like ThinkGenetic and the Coalition to ensure these hopes and dreams become a reality. We need those with Usher syndrome to know that they are not alone. They can turn to the Coalition for connection. Join us in celebration of our growing USH Family on Usher Syndrome Awareness Day on September 21st. And if you or someone you know has Usher syndrome, join the USH Trust registry: https://www.usher-registry.org/.
About the Author: Lanya McKittrick (Lane) received her Ph.D. in Special Education from the University of Northern Colorado. Her dissertation is titled Strategies that Parents of Children who are Deafblind Employ to Foster Collaboration within IEP Teams. Her research is rooted in her personal experience as a mom to four sons, two who have Usher syndrome (Dalton, age 11 and Conner, age 20). Lanya is a founding member and Board Director of the Usher Syndrome Coalition. The Usher Syndrome Coalition is connecting the global Usher syndrome community. Their mission is to raise awareness and accelerate research while providing information and support to individuals and families affected by Usher syndrome. Lane is also the founder of the Hear See Hope Foundation, whose mission is to raise funds for a cure and awareness of Usher syndrome. In addition to her work with these two organizations, she also consults with families on educational issues related to deafblindness.