This fundraiser is unique to me because I am doing something HUGE if I meet my goal of $10,000 by my birthday. I will be shaving my head, completely bald, if I meet my goal. For those of you who know me, my hair is a huge part of my identity. It has always been a part of who I am and has helped distinguish me from other people. Seriously, my grandmother could find me in a crowd because of my hair. Just like my hair is a part of my identity, Fragile X is a part of Ryan’s. I want to honor the person that he is through this fundraiser – the person I hope you all get to meet someday.
A few months ago we opted to do genetic testing on Lincoln to see if there was an underlying reason for his developmental delays. He was diagnosed with Fragile X syndrome. Like so many people when they first get this diagnosis, we were sad and scared for him and his future. I had a lot of confusion and once I got on the internet I was able to find FRAXA Research Foundation and answers to a lot of my questions.
2017 Update by Sidney Clark Dear Friends and Family, Lately we have been surrounded by so many devastating occurrences. Terrorist attacks, hurricanes, earthquakes, floods and fires have occurred one after another, and it seems like the world hasn’t had time to catch up. For a moment, I want you to put yourself in the head of one of the victims of these devastating occurrences. We are surrounded with external stressors that are beyond our control. You might feel overwhelmed, shocked, and left not knowing how to deal with the present situation. This is how my brother Lucas feels on a daily basis when triggered by seemingly insignificant things. If the food Lucas wants isn’t available, if his headphones are wrapped imperfectly around his phone, or if he is rushed anywhere, Lucas feels like his world is falling apart and immediately breaks down. Visiting a doctor for medical attention is traumatizingRead more
Handmade Magic In a far away land, the family and friends of eleven-year-old Makenzie Cote are as busy as Santa’s elves. A team of mothers, fathers, sisters, mother-in-laws, father-in-laws and friends are hard at work creating magic: handmade jewelry, hangers, wine bags, pot holders, dishcloths, slippers, greeting cards, nightlights and dolls. The operation in Canada runs as smoothly as the North Pole workshop, an assembly line of sorts, with each worker assigned a specific task, including the delivery and transport. This committed team is a labor of love, all in the name of Makenzie and finding treatments and ultimately a cure for Fragile X Syndrome. Fragile X Syndrome Makenzie was diagnosed when she was 16 months old, after her parents Dany and Josee began noticing delays in her development. Since that time, Makenzie has received special educational services and a multitude of therapies including physical, speech and occupational. Today Makenzie isRead 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
My son Alex is almost 18 years old and has Fragile X Syndrome. I never thought that I would put my son on an experimental drug. I figured I’d wait until it came to market and be sure it was “safe”. My son was not going to be a lab rat. Almost two years ago, Alex became seriously ill from the medications he was taking. These were tried and true, “safe” non-experimental medications, and they nearly killed him. We needed to find a safer alternative – and quickly. After much thought and many discussions, we decided that the trial of AFQ056 from Novartis was our best option. At the time, the closest site was Rush University Medical Center in Chicago. To say I was afraid is the understatement of the year. But Alex had no quality of life. His anxiety level, even on meds, was through the roof! He was
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
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