Board of Directors
Personal Statements From the NFXF Board of Directors
After searching for a diagnosis for my older daughter for a number of years without success, our pediatrician recognized some manifestations in my youngest daughter as a result of the NFXF/CDC mailer. I am forever grateful, and most passionate about increasing awareness in all populations.
I’m thrilled and honored to be a member of the board of directors. My husband and I are the proud parents of two “tween-age” kids in Grand Blanc, Michigan. Our son has fragile X syndrome while his younger sister does not and is not a carrier. Being a board member has really brought me full-circle, as I vividly remember the day I called the foundation just after our son was diagnosed, looking for answers, direction and an ear. While I still need all of those things, I hope to help provide answers, direction and an ear for other families as a board member. With my background in television reporting, I’m also hoping to assist the foundation in its efforts to reach all Americans impacted by Fragile X and to helping pave the future with greater awareness, better treatments and, ultimately, a cure.
I am a general practitioner attorney in Fort Wayne, Indiana and partner in a small firm with my father and sister. I was introduced to all things Fragile X after diagnosis of my son Mitchell in 2001. Following a long discussion after the initial diagnosis, plus attendance at four of the NFXF’s international conferences, I became an official trustee in 2006 and I accepted the invitation to become a board member in 2008 when my sixth year as an ARC foundation board member ended. It was also due in large part to the request of good friends and fellow parents who were active with the NFXF and had led by example with their selfless and tireless efforts to help my son and all families impacted by Fragile X. I felt that I (and every parent with any time or means at all) owes it to our children to get involved because if people like me won’t go the extra mile to attempt to cure Fragile X (and do all of the other things the foundation does that truly helps all families affected by it), why should anyone else in this world care about our children’s plight?
I am married to Melissa and the proud father of two children, Colin (18) and Tatyana (14). Since Colin’s diagnosis at the age of 9 months, we have relied heavily on the foundation for information, advice and support, and I am honored for the privilege to serve as a board member of such a well-run and respected organization. I have been an active member of the Maryland Resource Group since its inception (treasurer since 2001) and am looking forward to serving the broader Fragile X community.
In 1992 my wife Lisa and I were blessed to become the parents of an 8lb., 3oz. baby boy. My first son, Dillon Michael Carollo Kelley, was diagnosed with fragile X syndrome in 1995 at 30 months old. My life had changed forever. We currently live in Southern Maryland with our two sons (Dillon, now 17, and Ryan, 15). My wife’s Lisa’s extended family is also impacted by FXS, FXPOI and FXTAS.
I am a professor of pediatrics, neurology, and biochemistry at Rush University Medical Center in Chicago and have worked in the Fragile X field for over 20 years. I graduated from the University of Notre Dame in 1979 with a BS (chemistry) and subsequently from the University of Chicago with a PhD (biochemistry, 1983) and an MD (1985). I completed pediatrics and neurology training and established my Fragile X Clinic and Research Program in 1991. This program currently provides care and support to over 400 patients with fragile X syndrome for management of neurological, medical, and behavioral and genetic issues. My research has been highly focused on understanding and treating fragile X-associated disorders (FXD), including characterization of neurological problems in FXTAS, clinical-molecular correlations and markers of disease in Fragile X carriers, genotype-phenotype studies in fragile X syndrome, studies of effects of fragile X mental retardation protein (FMRP) on cell signaling and receptor mechanisms in blood, skin and neural cells, studies of epilepsy and psychopharmacology in FXS, newborn screening for FMR1 mutations, clinical trials of new promising medications in FXS, and development of outcome measures and biomarkers for these trials. I am on the Advisory Board for the FRAXA Research Foundation and the Scientific and Clinical Advisory Committee of the National Fragile X Foundation and also serve as the scientific coordinator for the Fragile X Clinical and Research Consortium (FXCRC). I plan to continue my mission of working for better treatments for individuals with Fragile X-associated Disorders based on underlying biology, and I am grateful for this opportunity to serve on the NFXF Board. I hope to serve as a liaison between the board, the FXCRC, and the Fragile X research community, and promote collaboration between all those working for treatment of FXD, while bringing the latest information and guidance regarding the rapidly-accelerating scientific and clinical progress in the Fragile X field to the board.
My wife, Mary Beth Langan, and I live in Grosse Pointe, Michigan, with our son, Andrew, 10, who is affected by fragile X syndrome. We were typical parents who said ‘Fragile what?’ when Andrew was diagnosed at age 21 months in October 2002. Fragile X has become a big part of our lives. Mary Beth has FXPOI and her dad, Jack Langan, has FXTAS. Mary Beth is active in the Fragile X Association of Michigan. I have helped both FXAM and NFXF with marketing and communications for a number of years and am happy to now become even more involved as a member of the NFXF Board of Directors. In addition to my busy schedule as Andrew’s dad, I am the associate vice president of marketing at Eastern Michigan University and, along with Mary Beth, a columnist of “X-tra Special Advice” in The Grosse Pointe News for parents of children with special needs.
My wife, Bonnie, and I are proud parents of four beautiful children: two sons, Jeff and Joey and, two daughters, Jenny and Julie. Our first-born son, Jeff, was diagnosed with fragile X syndrome one week prior to his first birthday. The early 1993 diagnosis was a “lucky stab in the dark.” At that time, little was known about the disorder and we struggled to find Fragile X-specific information, referral, intervention and support for the newly diagnosed. In turn, we sought a comprehensive resource network on Fragile X serving the medical community, affected families and disability groups. We ultimately embraced the National Fragile X Foundation—and they turned out to be a vital resource! Their collective wisdom, educational resources, support, commitment to research and effective advocacy have been an enormous help to our family and have positively impacted many other affected families. I am truly honored to now serve on the NFXF Board and look forward to more actively participating in an organization that is near and dear to my heart. Together, let’s find a cure!!
I work in Washington, DC in Government Affairs. Most of my career has revolved around working for and with elected officials and not-for-profits. On May 26, 2001 I married the most amazing woman I have ever met. Buffy and I have two children. Our daughter Georgia is a typical 8 year old girl. She is a wonderful, thoughtful and kind 8 year old who has worked with us as a team to help raise her younger brother. Jimmy Jr., is 6 years old and has the full mutation. It’s been a blessing to see how our non-verbal boy is capable of communicating his love for others. It is because of Fragile X, that we have been blessed in ways we never could have imagined. The Foundation has been a critical resource for our family since the day we received our diagnosis. We not only found great materials to help us learn about Fragile X but we met some wonderful people who understood what we were going through and had a love for our son that only other Fragile X parents are capable of. Buffy coordinates the Northern Virginia Fragile X Families Links Group and we hosted our first Educational Conference in October of 2011. If you have a newly diagnosed child and don’t know where to begin, I encourage you to send an email and just say “Help, where do I begin”. I promise you will find help and you will begin a journey that leads to a richer more fulfilling life than you ever imagined. I remember sending that first email and was grateful for the response I received. My email is email@example.com
My wife, Joy, and I are the lucky parents of two amazing young boys. Our lives were forever changed when Tyler, our youngest son, was diagnosed with fragile X syndrome at 18 months. Diagnosis day came in early 2010 after an exhausting 12-month marathon of physician meetings, therapies, tests, diagnoses and an emotional roller coaster ride because of false negatives. Despite the rough road to diagnosis, we consider it a blessing to have learned about Tyler’s condition at his early age, because this has allowed us to capitalize on early intervention therapies. Since Tyler’s diagnosis, our family has benefited from the overwhelming support, experience and expertise of many parents, professionals, and physicians in the Fragile X community, which was primarily made possible through the existence and effectiveness of the National Fragile X Foundation. A testament to the experience and expertise of the Fragile X community and the effectiveness of the NFXF was made very evident when Joy’s dad was diagnosed with FXTAS, a condition he has suffered from throughout his life, within one month of Tyler’s diagnosis. This is extraordinary considering no one in our extended families had ever heard of Fragile X or FXTAS before Tyler’s diagnosis. I am extremely honored to be a part of the NFXF Board of Directors, and look forward to embracing these new responsibilities by working work with the board, foundation team, and others that are committed to the cause of changing the world by finding a cure for Fragile X! My wife and I are parents and advocates first, but both continue to work (Joy is a VP of sales & marketing for a human resources services company and I am a CFO for a technology company). We reside in Orange County, California, and are both excited about doing what we can to further the mission of the National Fragile X Foundation.
LINKS Group Rep
My wife Tina and I were blessed with our son Hayden in March 2005. As time went on, we noticed Hayden wasn’t quite meeting “typical” developmental goals, and we saw him falling behind some of the children in his play group. Following “Mother’s intuition,” we began getting him tested. Finally, on October 22, 2007, we were hit with the news that Hayden has fragile X syndrome. After the initial shock and a few months of unanswered questions, my wife contacted the NFXF. They put us in contact with members of the Fragile X Association of Michigan, which is where we started our long and rewarding friendships with so many others in the FX community. FXAM also helped us establish a wonderful relationship with the NFXF. I attended Advocacy Day for the first time in 2008. With sadness yet excitement for a new challenge, we moved to San Antonio, Texas in 2010. Along with my wife and many families we met in Texas, we formed the Fragile X Alliance of Texas in April 2010. I am proud to say that we’ve grown FXAT from its roots in San Antonio to also include Houston as one of our chapters. I am honored and humbled to have been asked to sit on the NFXF Board of Directors. I was recently looking back at my first blog posting in 2008 as I wanted to try and chronicle our journey with Fragile X, and the title of that post seems so perfect now: “Moving Forward.”
I first became aware of Fragile X when my cousin William was diagnosed in 2004. Since then, my family has become extremely active in raising awareness and participating in national events for Fragile X. As a member of the Florida State House of Representatives from 2002-2010, I was able to help secure start-up funding for the Fragile X Clinic, which is part of the Fragile X Clinical & Research Consortium, at the Mailman Center for Child Development at the University of Miami. I have participated in three National Advocacy days in Washington, DC and hope to start state advocacy days here in Florida as well. I am very proud to be on the NFXF Board and look forward to working to make life better for all families living with Fragile X.
My husband Markus and I have one son, Kegan who is 13. He is a great kid and makes us laugh every day. He was diagnosed with fragile X syndrome when he was 6 months old in 1997. My family was one of many who started the Fragile X LINKS Group of Wisconsin in 2004. I have enjoyed working with families in Wisconsin and helping to grow our group. Last year I joined the board of directors as the LINKS Group representative. I love the work that I have begun and the challenges I have encountered. I am extremely honored to represent the board and to work with each board member and the foundation staff.