The NFXF Blog
The Launch of the International Fragile X Premutation Registry
Now you can explore the International Fragile X Premutation Registry page on the NFXF website. You will find information about the Registry, a Frequently Asked Question section, the pictures and biographies of the Advisory Committee, and the “Enroll Now” button. The “Enroll Now” button will take you to the HIPPA-compliant REDCap database where your information will be stored.
Help Expand Telehealth Options
The TREAT Act works to resolve this. The Temporary Reciprocity to Ensure Access to Treatment (TREAT) Act was introduced in the Senate by Senators Roy Blunt (R-MO) and Chris Murphy (D-CT). The legislation provides temporary licensing reciprocity for health care professionals in good standing during COVID-19 and future national emergencies.
NFXF Advocacy in 2021
Gregg Harper, Fragile X dad, former member of Congress for Mississippi's 3rd Congressional district, offers a message to all Fragile X families following the 2020 election, looking forward to NFXF advocacy in 2021.
Camping and Fragile X
Because of the hard work of NFXF advocates over the past 20 years, decision-makers in Congress know what Fragile X is. Being present, persistent, and problem-solving is what gets things done in Congress.
Sneak Peek at the International Fragile X Premutation Registry
The International Fragile X Premutation Registry will help us learn about the Fragile X premutation and will build community and develop a group of individuals interested in participating in research. Learn more in this video from Dr. David Hessel of the University of California, Davis MIND Institute.
Exploring the Most Important Information for New Premutation Carriers
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X ...
Clustering of Comorbid Conditions Among Women Who Carry an FMR1 Premutation
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.
Cerebellar-Cortical Function and Connectivity during Sensorimotor Behavior in Aging FMR1 Gene Premutation Carriers
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.
Inhibition Deficits Are Modulated by Age and CGG Repeat Length in Carriers of the FMR1 Premutation Allele Who Are Mothers of Children with Fragile X Syndrome
RESEARCH RESULTS ROUNDUP — Older mothers of children with Fragile X syndrome who have mid-range CGG repeats (~80–100) may be at increased risk for difficulties with inhibition.
Life with Fragile X: Who is Helping Who?
We’re always looking for new ways to share and raise awareness about Fragile X, life with Fragile X, and the individuals and families it affects. Here we talk with Laura Dooling and her life with three cousins with Fragile X syndrome.
Telehealth Visits: Suggestions for Parents on How to Prepare
As the option to do telehealth visits opened up over the past six months, we have gathered information to help you make the most of your online visit for your child with Fragile X syndrome, whether they are a young child or an adult.