#FriendofFRAXAInterestsSwimming, watching/collecting movies, reading books, playing mini golf, playing Wii, and being with his family. ChallengesThe dentist, thunder and other loud noises. Become a #FriendofFRAXAIf you would like to nominate someone as a #FriendofFRAXA, simply email a photo accompanied with age, location, and a few of his or hers interests and challenges to email@example.com. We welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike. Simon is Weird and Wonderfulon 20 February 2015Simon is Weird and Wonderfulon 20 February 2015Anders Zorović – A Portraiton 13 June 2013Anders Zorović – A Portraiton 13 June 2013Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Read more
Jessica Haugen and Jeff Eliason received the phone call every parent dreads in October 2012. Their son’s pediatrician told them their son, Larry, then 1, had Fragile X syndrome (FXS) and “there’s nothing you can do about it.” The couple reacted similarly to how other newly diagnosed parents receiving these results. Denial. Discouragement. Depression.
Co-Founder Kathy May Returns after Two Decades to Write Grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by Fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”
July 22 is National Fragile X Awareness Day, but I’ll bet few know the history behind it.
In 2000, before there was such a thing as a Fragile X Advocacy Day, FRAXA Research Foundation and David Busby (husband to Mary Beth, father to two adult sons living with Fragile X, a member of FRAXA’s pioneering leadership team, and a prominent and politically well-connected DC lawyer) were running Fragile X advocacy in Washington, DC.
Twenty-two is a terrifying birthday for the parent of a child with Fragile X Syndrome. It marks the end of formal schooling. We were daunted by this transition. Our son, Ryan, had been attending a residential school, New England Center for Children, for the previous 12 years. For almost all his waking hours, Ryan had one-on-one staffing and five additional staff nearby in case of behavioral outbursts. On community outings he was usually accompanied by at least three staff members. Now we were about to move him to Shared Living Collaborative (SLC) where he would have just one-to-one daytime staffing and two-to-one staffing in his residential placement, with no immediate, additional staff for help during a behavioral incident. We were tense and on edge about how this new arrangement would work. Rocky Beginnings This placement did not start out well. SLC seriously questioned whether Ryan could continue in the program. We approached a crisis point at SLC,
Rolling Stone Magazine published a powerful article by award-winning writer, Paul Solotaroff, featuring his son, Luke. Luke is 17 years old and has Fragile X syndrome. What will happen when Luke becomes an adult and no longer has a right to schooling? During his research, Paul visited the Shared Living Collaborative in Merrimac, MA. This is the program where my son, Andy, age 28, works (and plays) during his days. Perhaps it can serve as a model for other programs around the country. Read the article here: http://www.rollingstone.com/culture/features/lukes-best-chance-one-mans-fight-for-his-autistic-son-w431012 Read about Shared Living Collaborative here: https://www.fraxa.org/turning-22-fragile-x-adults/Read more
FRAXA, the world’s leading organization fully committed to finding a cure for Fragile X syndrome, has announced Theodore G. Coutilish, Kathan Pierce, and Jessica Haugan have joined its Board of Directors. Kathan Pierce Kathan Pierce most recently held senior finance positions at Liberty Mutual Insurance and Fidelity Investments. She and her husband, Michael, live in Medford, Mass., with their two sons, Graham and Reid, who were diagnosed in 2015 and 2016 with FXS. She holds a BS in Business Administration from Villanova University and an MBA and Master of Science in Accounting from Boston College. She is co-founder of The Pierce Family Fragile X Foundation, a nonprofit whose mission is to raise funds to help find a cure for Fragile X and raise awareness. Jessica Haugen Jessica Haugen of Thompson, N.D., has served the youth of North Dakota for the past 11 years at Ruth Meiers Adolescent Center, a residential treatment center that focusesRead more
“Well, I have Fragile X” Simon is weird and wonderful. He’s friendly and curious and talks non-stop. He’s an athlete and an artist. He’s unbelievably generous and crazy stubborn. He often repeats sentences. When his mom reprimands him for something, he’ll say, “Well I have Fragile X.” His next sentence is often, “I want to get rid of it.” Sometimes he says, “It’s your fault.” What Simon needs most in the world is cable TV, the Internet, and food his mother disapproves of. He loves his room: dark and private and equipped with many screens. He loves babies and pretty girls. He is obsessed with Danica Patrick (but that’s supposed to be a secret). He would like to drive but understands that he needs to learn to read first. “That’s too hard,” he says. What he needs most in the world is love and acceptance: from his family, his friends,Read more
In a heartfelt, humorous and insightful speech, Elizabeth Higgins Clark imparts the inspiration and love she has received from her brother, David, who has Fragile X Syndrome. Fragile X is the most common form of genetically transferred intellectual disability. Clark gave the following speech in Danbury, Connecticut at the 11th Annual Fall X Ball benefitting the FRAXA Research Foundation. When I was trying to figure out what to say to you all tonight, I called David and asked what should be in the Fragile X speech. He replied, “You say, ‘this is my brother.’” Featured on HuffingtonPost http://www.huffingtonpost.com/elizabeth-clark/david-is-my-human-barometer_b_4220818.html My favorite part is this: In a way, David is my human barometer. I judge the character of others by the way they treat my brother. If you flinch when he flaps his hand, or turn to dismiss him, you will never be close to me. My brother treats everyone he meets with decency andRead more
Niklas is a 19-year-old who exemplifies the spirit of love and happiness in all he does. While he was diagnosed at just 16 months with Fragile X, we have never let it define who he is, but merely offer insights into his world and how he experiences it.Looking back, probably the most difficult years were before his speech developed. He was extremely frustrated that he was unable to communicate his needs. Even with the support of Early Intervention, he did not begin to sign until age 2. We will never forget the turning point in our lives, when we realized how truly intelligent Niklas was, and how we, as his parents, had to re-train ourselves, to better understand how he thinks and perceives the world around him. Niklas used to have emotional outbursts when leaving our house and driving out of our neighborhood. Being “typical” we were not bright enoughRead more
Luke wakes up every morning with a smile on his face. And that joy stays in his heart all day long. Except when it’s time to turn the tv off, shut down the ipad, or close the dvd player. Then all hell breaks loose. He yells and screams and carries on until I either have to give him a time out or I hold the beloved device in my extended arm and promise to give it to him if he calms down and stays calm for a period of time. But as he continues to grow taller, stronger, and more clever, it gets harder to end the conflict with the desired outcome. He is a master jigsaw puzzle solver and sees patterns in the pieces rather than solving it by following the pictures. He often does puzzles upside down. I was explaining this to someone recently while we were watching
Years ago – We were completely unprepared for the journey we were about to embark on when our oldest son, Taylor, was diagnosed with Fragile X syndrome at the age of 2. Unwilling to accept the grim future experts were predicting for him, we teamed up with FRAXA Research Foundation and got to work. At that time, even the suggestion that one day we hoped to have a medication to treat mental impairment sounded like science fiction. The little engine that could – Our decision to get involved with FRAXA early on was an easy one. Since FRAXA was founded in 1993, this small non-profit has been steadily chugging along. In an amazingly short period of time, FRAXA has raised $27 million, facilitated worldwide collaboration among the researchers, helped usher three different classes of medications into clinical trials, become a role model for other medical non-profits in encouraging translational science,Read more
June 2017: Andy and his dad, Dr. Mike Tranfaglia Andy is 28 years old now. He lives at home with us, his mom and dad, two cats, and a dog. He can understand most of what people say, but is usually too anxious to let you know. He will cover his face whenever someone walks into the room - even his mom or dad! Andy attends a supported farm program most days, and the minute he is out of the house, we rush off to work at FRAXA. We don't know what the future holds, but we hope for great things for Andy. We try to teach him basic skills to increase his independence in the future, but realistically, we don't leave him alone for even 15 minutes at this point. What do you call a babysitter when you need care for a 27-year-old? There is an image of Andy I canRead more
by Leslie Martini Eddy Saša Zorović first learned his son Anders’ had Fragile X syndrome when he was four years old. The diagnosis hadn’t come easily. Anders had been tested for Fragile X a year earlier and the results were negative. “We are not sure to this day why that happened. His geneticist suspected Fragile X and ordered the test, but it came back negative. We continued seeing other doctors and specialists, trying to get an understanding of what Anders had,” Saša said. A year later, another geneticist took a look at Anders and said with certainty, “He has Fragile X.” After a thorough examination of Anders and sorting through previous reports, another test was ordered. This time it came back positive. Anders had Fragile X after all. Anders showed symptoms of Fragile X early on. At 9 months, his very low muscle tone prevented him from sitting up straightRead more
Dear Friends: Two decades ago, our baby daughter Allison was diagnosed with Fragile X Syndrome. We tested her after learning that her cousin, my then three-year-old nephew Grant, had Fragile X, a disease no one seemed to have heard about. That same year when I learned that FRAXA Research Foundation was already recruiting the world’s top neuroscientists to study Fragile X. Two decades later, the neuroscience world is buzzing about this leading cause of autism, and more research proposals than can be funded are flowing in. Alliances with top pharmaceutical companies have led to promising treatment strategies, investigational drugs, and clinical trials of new treatments. FRAXA has become a role model for other medical nonprofits, attracting the attention of scientists and pharmaceutical companies around the globe. “I have interacted with FRAXA since 2006, acting as a researcher working in development of new medicines for Fragile X Syndrome. What attracted me to FRAXA isRead more
Darren's Smile - This is a very difficult post to write because it is about a son, Darren, who has passed away. Darren’s dad has written a memoir – a beautiful tribute to his son. Darren had Fragile X syndrome. He lived a rich life and was very much loved. Sadly he died because of a choking incident at the group home where he lived. There’s not much written about the risk of choking for people who have Fragile X, but I do wonder if it is a particular risk that we should remember. Read Darren's Smile at https://fraxa.org/pdf/Darren.pdfRead more