NFXF advocates have been to Washington every year since 2004, and we’ll be there on March 1, 2017, on our 14th consecutive year. Some years, our high hopes were realized and new programs were created because of our hard work. Other years, turmoil in all quarters put us at-risk for cuts, or elimination, but we were thrilled to maintain the status quo. Last year, we stayed in the game and made new, or nurtured, old relationships to make sure we’d be there when the budget reigns loosened. This year our budget balancing act continues, and new friendships with eager learners await our advocates smiling faces. Join us and help us fight the good fight.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a disorder that affects Fragile X premutation carriers, typically over the age of 55. Individuals with FXTAS have tremor of their hands when they are using their hands to do activities. They also have difficulty with their walking, appearing as if they were drunk even though they are sober. As the disease progresses over time, people with FXTAS can develop problems with memory and loss of sensation in the feet. Symptoms are highly variable, with some FXTAS patients having more severe tremor and others having more balance issues. Women tend to be more mildly affected, if they are affected at all, due to the typical presence of a normal Fragile X gene on their second chromosome.
You are invited to participate in an online research survey to investigate the journey of fathers, following their child’s Fragile X diagnosis and focusing on their support-seeking behaviors.
Virtually all of my previous columns have addressed in one way or another the behavioral issues of males with Fragile X syndrome (FXS). That is largely because males experience both greater frequency and severity of symptoms. However females with FXS do present a variety of challenges as well so this special, expanded column will be dedicated to addressing some of them.
This study examines women’s experiences with Fragile X carrier screening in the United States. The purpose of our research is to determine how women are being offered carrier screening for Fragile X, when they are offered screening and which healthcare professionals are responsible for returning their results. The study entails interviews with women who have undergone Fragile X carrier screening in the last six months.
On November 12, The Fragile X Society of Connecticut hosted it's 9th annual conference, attended by 140 professionals and parents from nine states on the east coast.
As we begin the new year, we want to take a moment to thank you for your incredible support in 2016! Because of you, we continued our mission to help all families living with Fragile X. Last year, we accomplished more than we could ever list in a single article so we want to share just a few highlights that happened around the nation because of you!