All Variations Archives - The Association for X and Y Chromosome Variations

AXYS Awarded Grant to Develop Adult Specialty Clinics

Many adults with X and Y chromosome variations experience difficulty in finding adult specialists familiar with the range of medical issues that affect them into adulthood. For many adults, there are a range of endocrinology disorders, neurological complications, and autoimmune disorders that affect their health. Many have continuing problems with psychiatric complications, autism spectrum disorders, and learning disabilities. Of approximately 500 annual calls and e-mails to the AXYS help line, 20 percent request assistance in finding medical professionals who can provide specialty consultation and treatment recommendations for adults for their primary care physicians. In addition, many families have difficulty in obtaining medical documentation required to access disability services or receive appropriate workplace accommodations. While pediatric programs have experience with providing multi-disciplinary care, adult clinics find more difficulty in coordinating multi-disciplinary care.

On October 15, AXYS was notified by the WITH Foundation that it would receive funding to work collaboratively with the staffs of the AXYS Clinic & Research Consortium members at Children’s Hospital Colorado outside of Denver and Emory University Medical Center in Atlanta to help establish adult specialty clinics. These clinics will be family-centered and include multi-specialty evaluations that can document medical and neuro-developmental barriers to successful employment so that this large population of adults, most of whom can work at least part time, can receive necessary workplace accommodations and supports. In addition, the evaluations will allow adults with X and Y variations to more easily access public programs that promote their ability to live independently. Creating model evaluation templates will also be a goal of the clinics.

AXYS is honored to have received this funding and looks forward to getting started on this critical project.

Please see the official press release from WITH:

WITH Foundation awards $258,000 to promote comprehensive and accessible healthcare

Rick Frith2018-10-17T20:32:29+00:00Categories: All Variations|

New Research Project: How Families Experience an X & Y Chromosome Variation Diagnosis

The Family Experiences and Attitudes on Diagnosis and Support (FEADS) Study is STILL OPEN!

This study is open to individuals and parents of individuals who have received a diagnosis of an X & Y Chromosome Variation, before birth or as a child or adult. If you haven’t done so already, please consider sharing your experience with researchers from Mayo Clinic and Emory University. We hope that these results will help us improve the diagnosis process.

The study involves answering questions in an online survey that will take approximately 15-20 minutes of your time.

Megan Allyse, PhD from The Mayo Clinic in collaboration with Sharron Close, PhD from Emory University are recruiting volunteers from the X & Y Chromosome Variation Community to participate in this study.

Participate in the study

Rick Frith2018-10-15T12:07:35+00:00Categories: All Variations|

Exciting Leadership Changes to Support AXYS’s Goals

by Gary Glissman

AXYS has a new and, for the first time ever, full-time Executive Director! After a multi-month recruitment and interview process, the AXYS Board of Directors was pleased to offer the position to Carol Meerschaert who began her new role on October 7. (See Carol’s message in the upcoming fall newsletter from AXYS, later this month.)

The recruitment process was led by Robert Miller who has served as the part-time AXYS interim Executive Director for the past two and a half years. As planned, Robby will return to his original role with AXYS where he will concentrate on developing the AXYS Clinic & Research Consortium and other strategies to further the goals of the organization.

Carol brings considerable experience to AXYS including time as president of a small biotech company, Executive Director of the Massachusetts Dietetic Association, and work with the Healthcare Businesswomen’s Association. From a pool of 34 applicants, Carol impressed the Board’s recruitment team with her clarity of vision, her relevant skills, and her sincerity. You will learn more about her in the weeks to come. We are excited to have her on the AXYS team.

This is a huge step for AXYS. Establishing a full-time role in this critical position will allow us to better focus our time and energies on the multiple and demanding objectives that we know are important to the X and Y variation community. The Board looks forward to working side-by-side with Carol to implement many expanded services and new initiatives in the years to come.

We also wish to thank Robby for providing steady leadership, and for the many positive changes he has brought about during his tenure as the Executive Director (see this link for some of those accomplishments.) This list does not include internal improvements that involved strategic direction, operational efficiencies, and improving our financial status. We are grateful for his continuing presence with AXYS to work with Carol, and as our Director of Clinic and Strategic Initiatives.

Finally, many thanks to all of you who continue to be involved with AXYS through financial support, volunteer time, participation in support groups, social media pages, and much more. We have come a long way in recent years but still have many things to accomplish and with your continued help and interest we will see even more success. Please join me in welcoming Carol to our AXYS family!

Rick Frith2018-10-13T10:55:25+00:00Categories: All Variations|

Mid-Atlantic Support Group Social Brings Families Together

On August 11th, the Mid-Atlantic Support Group held a summer social get together in Chadds Ford, PA. The gathering consisted of 22 families, 21 individuals with a variation, and over 50 attendees total. Families came from Massachusetts, New York, New Jersey, Pennsylvania, Maryland, Delaware and California. Children and adults representing XXY, XYY, XXYY and Trisomy X enjoyed a cook-out and various indoor and outdoor games. For some, it was the first time ever meeting someone else with their condition. For others, it was an opportunity to catch up with friends.

Ryan Bregante, who started the group Living with XXY, attended after having spent the week participating in a study at the NIH. He shared his positive experience with everyone interested, encouraging them to participate in research studies if they could. A number of the young adults were excited to have the opportunity to talk with Ryan face-to-face. It was also educational for Ryan to meet those with other conditions.

Mostly, it was an opportunity for people to talk and interact in a social environment with others just like them. Both parents and individuals with one of the conditions, found the afternoon to be an opportunity to learn new things, make new friends, and leave the rigors of daily life behind for a few hours.

This comment from one parent perhaps captures the essence of the day best of all. “I got very emotional watching Violet speak, for the first time ever in person, with another girl with Trisomy X. I remember being so scared when we first found out her diagnosis, not knowing anything about it and feeling so alone. Having the opportunity to watch her play with another girl with her condition was incredibly moving. They seemed to have an immediate connection with each other. Violet said on the way home that they “just started talking and were friends right away.”

Sometimes navigating through the ‘regular world’ can be challenging when people don’t understand why Violet acts the way she does. Being with a group of people who understand is very comforting. These kinds of meetings are so valuable both for opportunities like Violet’s, and also for the relationships built between parents with shared experiences.”

Another parent had this to say, “It was life changing for us as a family, and it will be an incredible support system for Carlos as he grows up. We are so grateful for all of you and what you do; for providing this platform to interact and support one another. Thank you so much for having us. Carlos is still talking about it.”

And this from a teen, “I went to a meet and greet, where I could meet other men that can relate with me. I met a guy named Ryan who has a YouTube channel and explains what living with XXY is like. Even though I […]

Rick Frith2018-10-26T12:52:30+00:00Categories: All Variations|

Everything You Never Knew About the ADHD Brain

Article Title: Everything You Never Knew About the ADHD Brain

Author: Alison Kravit, PsyD, AAC

Date of Publication: July 2018

“Imagine hundreds of cars approaching an intersection that has no traffic light or stop sign. This is what happens to the ADHD brain every day where the prefrontal cortex (the intersection) is unable to properly regulate your various thoughts and feelings (the various cars approaching the intersection). Learn more about the ‘Intersection Model’ for ADHD.”

Rick Frith2018-09-04T12:44:12+00:00Categories: All Variations|

Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do

Article Title: Secrets of the ADHD Brain: Why We Think, Act, and Feel the Way We Do

Author: William Dodson, MD

Date of Publication: 2016

“ADHD is a confusing, contradictory, inconsistent, and frustrating condition. It is overwhelming to people who live with it every day…The Diagnostic and Statistical Manual of Mental Disorders has 18 criteria, and other symptom lists cite as many as 100 traits.”

Rick Frith2018-09-04T13:25:01+00:00Categories: All Variations|

The Brain-Behavior Connection In Children with ADHD

Article Title: The Brain-Behavior Connection In Children with ADHD

Author: Joel Nigg, PhD

Date of Publication: 2016

Presentation slides providing information on the neuroscience of attention and emotion as it relates to ADHD. The slides also offer a look at self-regulation of emotions and behavior in individuals with ADHD and how much variability there is in this condition from one child to the next.

Rick Frith2018-09-05T10:52:25+00:00Categories: All Variations|

Emory’s Sharron Close Started Clinic for Patients with X & Y Chromosome Variations

AXYS Editor’s Note: AXYS was excited to see this article in the Atlanta Business Chronicle. Dr. Close serves as the chair of the AXYS Professional Advisory Committee and her Atlanta clinic was one of the original clinics in the AXYS Clinic & Research Consortium (ACRC). Her dedication and insight into X and Y variations was already well-known in the community and the guidance that she provides the AXYS organization is invaluable.

Rick Frith2018-06-18T21:06:33+00:00Categories: All Variations|