Saturday, December 03, 2016

AXYS's Mission Statement


AXYS’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. 

We endeavor to fulfill this mission of satisfying unmet needs and improving the lives of individuals and families affected by X and Y chromosome aneuploidies including 47XXY, Klinefelter syndrome, Trisomy X, XYY syndrome and associated conditions through:

Support - providing services and support geared to the needs of our members, their families, and the clinical and educational professionals who assist them 

Education - assuring that up-to-date, scientifically accurate information is in the hands of the appropriate people at the times they need it, as well as fairly and respectfully reported in the media

Research - encouraging the advancement of research and other scholarly activities that support the generation and dissemination of knowledge about these conditions

Treatment - helping make available new, improved and more affordable treatments and interventions that will address the health and educational needs of adults, adolescents and children who are affected by – or at risk of becoming adversely affected by – these conditions

AXYS celebrates the diversity of the human family; including sex and gender, skin color, ethnicity, religion, sexual orientation, gender identity, age, socioeconomic status, physical characteristics, and mental abilities.

Our Motivation

We are compelled in the foregoing mission because X and Y chromosome variations are in fact:

Very Common - these conditions occur in approximately one out of every 500 birth; (1)

Rarely Diagnosed - less than 25% of all affected individuals are evercorrectly diagnosed, and a great majority of the individuals who are diagnosed, are not properly diagnosed until well after puberty.(2) This is important because there is widespread acceptance of the fact that the lives of children and adults with these conditions can be significantly improved through early intervention services and appropriate and timely treatments

Disturbingly Misunderstood - recent studies indicate a termination rate that exceeds 70% of the pre-natally diagnosed fetuses, when in fact the children born with these conditions have no dysmorphic charactistics and are known to do exceedingly well, particularly with early interventions and timely and appropriate care

Not Adequately Researched - these conditions have received far less research and clinical attention than is merited by the numbers of individuals’ lives they affect, and the substantial opportunity for improvements through earlier diagnosis and better treatments and interventions

We’ve Barely Scratched the Surface Thus Far

According to the most reliable scientific studies concerning incidence, there are approximately 8,000 infants born with one of these conditions every year in the United States alone. 

Despite being the world’s oldest, largest and best known organization supporting these conditions, AXYS’s membership barely even scratches the surface of the population of children, adolescents and adults it represents.  Take the greater Los Angeles metropolitan area for example.  With a population of over 18 million persons, there are nearly 40,000 persons who have an extra X and/or Y chromosome living within a two hour drive of AXYS’s corporate offices.  If we assume that only 25% of these individuals are diagnosed, then there are 10,000 diagnosed cases of X and/or Y chromosome aneuploidy in this region; and yet AXYS’s database for this area includes less than 250 families - roughly 2-1/2% of the diagnosed cases and 1/2 of 1% of the number of actual cases.

We are aggressively working to improve this.  Our belief is that with greater membership, financial support and positive public presence, AXYS can and must play an increasingly significant role in promoting earlier identification and care of persons with the condition, promoting targeted medical research and directing timely and appropriate support services, each resulting in better treatment modalities, fewer problems from the condition and improved health and productive capacity for affected individuals and their families.

(1) An estimated 1 out of 900 females are Trisomy X, and 1 out of 900 males are XYY.  Together with the estimated 1 out of 600 males who are XXY, these and associated X and/or Y chromosome variations affect more than 1 out of every 500 persons.

(2) Source:  Bojesen et al., “Pre-Natal and Post-Natal Prevalence of Klinefelter Syndrome,” Journal of Clinical Endocrinology & Metabolism (2003)

Copyright 2016 by AXYS