2018 Accomplishments
The donation of time and talent from our dedicated board and volunteers, supported by the generous contributions of donors has helped us accomplish:
AXYS Clinic & Research Consortium (ACRC)
- The Children’s Hospital of Philadelphia (CHOP) joined the AXYS Clinic & Research Consortium (ACRC) bringing the total number of clinics specializing in X and Y chromosome variations to 10.
- Obtained funding supporting an ACRC project where two of our ACRC clinics will begin developing an adult-focused multidisciplinary clinic.
- Continue developing consensus-based documents that reflect best practices in medical treatment to be shared with medical professionals nation-wide to help ensure a standard course of care for everyone with an X and Y variation.
Digital Communications, Education and Resources
- Completed the transition of the XXYY Project under the AXYS umbrella by moving online documents and information from xxyysyndrome.org to genetic.org.
- Expanded our online library of published articles. Numerous legal and educational resources were added.
- Produced eleven 90-minute webinars featuring leading specialists. All are available on our website and YouTube channel.
- Produced new downloadable brochures suitable for newly diagnosed individuals and for sharing with medical, school and therapy professionals. Updated and reprinted four condition-specific and one general AXYS brochure and made these available to the X and Y variation community, both electronically and in print.
Supporting Research
- Funded the Emory University study “The Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYY” through the generous contributions made to The Ryan Scovell Memorial XXYY Research Fund.
- Began distributing a “Research Paper of the Month.”
- Supported 20 research projects seeking participation from the X and Y variation community by distributing calls for participation.
Support for Individuals and Families
- Began planning the 2019 Family Conference in Atlanta.
- Distributed the landmark ebook, “Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes”.
- Collaborated with local and online support groups worldwide.
- Manage general and condition specific Facebook pages and support groups to provide continual and confidential support and help for individuals and families.
- Provided personalized support for nearly 400 families via our toll free Helpline (888) 999-9428.
Collaborating with Health Professionals
- Joined healthcare professional group to help develop universal newborn testing for SCA conditions.
- Sponsored information and outreach exhibits reaching nearly 10,000 attendees at the National Society of Genetic Counselors and the Endocrine Society conferences.
