Today’s blog is written by Melissa Chaikof. I have known Melissa since her daughters were identified with hearing loss. Melissa K. Chaikof has worked as Donor Research Analyst since 2002 for Nonprofit Leadership (NPL), LLC. She is a current board member of the Coalition for Usher Syndrome Research; a past board member of the Gift of Hearing Foundation, Cochlear Implant Association, Inc. (CIAI), and the Auditory-Verbal Center of Atlanta; and has been a contributor and associate editor for Contact, the publication of CIAI, for six years. Melissa holds an M.S. in Engineering from Johns Hopkins University and a B.A. from the University of Pennsylvania in applied math.
Vision for a Cure is a new non-profit foundation (501c3 status pending) whose mission is to fund medical research to find an effective treatment to save or restore the vision of those with Usher Syndrome type 1f. Usher Syndrome is the leading cause of deaf-blindness in the world. Type 1 is the most severe. Those affected are born profoundly deaf with impaired balance. Later, retinitis pigmentosa causes them to gradually lose their vision, first with night blindness in early childhood, followed by increasingly narrowing tunnel vision progressing eventually to total blindness. Approximately 2% of Ashkenazi Jews carry the recessive gene for Usher Syndrome type 1f; it is the leading cause of deaf-blindness among Jews. While cochlear implants provide excellent access to hearing and spoken language to those with Usher Syndrome, no effective treatment yet exists for the associated vision loss.
The Chaikof family founded Vision for a Cure because two of their three children, Rachel and Jessica, are affected by the disease. Saving their daughters’ vision is a race against time, with the window narrowing as more time passes without an effective treatment. Both girls were born profoundly deaf, but were fortunate to receive cochlear implants as babies. That, combined with several years of therapy, has allowed them to hear and speak well and succeed in mainstream schools. Rachel even became fluent in French, and Jessica is planning to major in biochemistry when she starts college in the fall of 2014. Both girls love to travel and see the world.
At Rachel’s high school graduation, her parents, grandparents and Auditory-Verbal therapist watched and cheered as she won one of her school’s top academic awards, and they thought about how the years of hard work had paid off. Then two months later and a few weeks before Rachel, a very gifted artist, was to begin art college, she received the devastating diagnosis of retinitis pigmentosa during a routine annual eye exam. The family knew immediately that meant Rachel and Jessica both have Usher Syndrome. Talking about the implication for her life of losing her vision, Rachel states, “If no effective treatment becomes available, I will no longer be able to travel, see our incredible world, and pursue my passion for photography.”
Much of the research into a cure for retinitis pigmentosa is genotype-specific. The Chaikofs learned that while there is research funding for many of the other subtypes and even a clinical trial for Usher type 1b, there is currently no research on type 1f. One of the major reasons for this is the lack of an animal model; without an animal model, there can be no clinical trials for those with type 1f because potential treatments must first be tested on an animal model. Thus, the initial goal of the foundation is to fund the creation of an effective mouse model for Usher Syndrome type 1f and, subsequently, to fund research into a cure using this mouse model.
Right now, parents of children with type 1f are sitting and watching their children’s vision fade while clinical trials for other Usher genotypes are offering encouragement and hope to others. Approximately 2000 in the United States alone are suffering, with as many as 8000 worldwide. Yet, we can only sit by and watch this disease rob our children of their chance for a full and vibrant life. Please help make hope a reality for those with type 1f.
ABOUT VISION FOR A CURE
Email: [email protected]
Donations can be mailed to:
Vision for a Cure
321 Walnut Street
Newtonville, MA 02460-1927