July, 2018

One of the sex chromosome variations least understood is XXYY. While the prevalence is reported to be 1 in 18,000 to 1 in 40,000, these estimates are likely an inadequate representation of true prevalence owing to missed diagnosis and alternate diagnoses for developmental, learning and behavioral issues. While early diagnosis is improving due to pre-natal screening and pre-natal diagnosis, there remains an unaccounted number of boys and men who have this variation and may not be aware.

For families with children and adults affected by XXYY, daily challenges abound in the areas of physical health, learning, behavior and launch to adulthood. Due to lack of information informed by research, no guidelines currently exist to help guide health care providers, educators and social services for how to preserve and maintain best function and quality of life for boys, men with XXYY and their families.

Currently at Emory University, an eXtraordinarY Team is working clinically and scientifically to improve understanding, identify needs and to create patient-centered solutions for all sex chromosome variations with recent projects focused on XXYY.

A research team led by Dr. Sharron Close is partnering with patients and families to create new research pathways to bring greater understanding and awareness about the XXYY life experience. Her current study, funded by the XXYY Project and a generous contribution by the Mueller Foundation to the Ryan Scovell Memorial Research fund is entitled, “Living with XXYY: Voices of Patients and Caregivers,” is nearing completion of analysis. Findings include deep descriptions of what is it like to have XXYY and what it is like to care for someone with XXYY. In the telling of their stories using guided interviews, patients and caregivers provided information that will contribute to future solutions for challenging problems encountered in daily life. Sharron also recently also finished an exploratory project focused on women with XXX about their health concerns and issues for which they would like to find solutions. Manuscripts for each of these projects are currently in preparation.

Emory PhD student, Amy Blumling is currently initiating her dissertation study entitled, “The Relationship of Physical Function and Psychosocial Health on Quality of Life in Patients with XXYY. In this study, she will be measuring men’s self-report of physical function, physical symptoms, anxiety, depression and quality of life. Results of the self-report surveys will be further explored by interviews with a select group of participants. The intent of this study is to bring an in-depth understanding of how physical and psychosocial health are related to quality of life in men with XXYY. Ms. Blumling’s work is funded, in part, by the XXYY Project. She is seeking additional funds to meet the budget for the entire body of work.  Please consider a donation today.

Since the inception of the eXtraordinarY Clinic in 2016, Dr. Amy Talboy and the multidisciplinary team at Emory have witnessed the growth of the program requiring addition of clinical days each month. We are working on developing a lifespan approach to multidisciplinary and coordinated care from pre-natal diagnosis to adulthood. We are currently reaching out to adult clinicians to join our team and are seeking various means of financial support to integrate the program from childhood, transition to adulthood and adulthood.

As always, The eXtraordinarY Team at Emory welcomes questions from patients and families. Members of our team include:

Amy Talboy, MD Medical Director

Sharron Close, PhD, CPNP-PC, FAAN, Nurse Practitioner & Researcher

Hailey Dennis, MS, CGC, Genetic Counselor

Jessica Cruz, RN, Nurse Navigator

David Marcus, PhD Neuropsychologist

Leo Panagiotakapoulos, MD, Pediatric Endocrinologist

Akanksha Mehta, MD, Urologist