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Reflecting on the 2019 AXYS Family Conference 

We promised that our 2019 AXYS Family Conference would be the best one yet and we achieved that goal. Nearly 400 participants from as far away as Brazil and The Netherlands gained knowledge and understanding in Atlanta. You could feel the strong sense of community and watch friendships blossom. Here are some comments from those who attended in their own words:  

“The people my daughter and I met were amazing.” 

“A real sense of community was present at this conference.” 

“The camaraderie with other parents was invaluable. Seeing our son mingle with the other guys so comfortably. The bowling, pool, and billiards were a hit!”

“This conference has changed our lives, and in return our son’s…AXYS is a family I am proud to have, my admiration of the doctors is off the charts!!!”

“I had a WONDERFUL experience at the conference. I learned so much, and my cup is full of knowledge that I am excited to share. I’m already looking forward to the next conference. Thank you to all the people in the background who got things together. I know it’s a job. Thank you so much.” 

From an exhibitor: “I wanted to thank you for producing a flawless event where researchers and clinicians could share our findings with the families and other professionals. The event felt very well organized and we felt very well taken care of in terms of food and drink, along with comfortable places to talk with families and among ourselves.  Both formal and impromptu discussions about our research with families who have participated in the past, are about to participate in the near future, or are now considering participating thanks to these opportunities, were truly the highlight of the conference.”

AXYS offered live webcasting for the first time. From as far away as Cyprus, 35 families were able to participate from their homes, watching sessions as they happened and submitting questions for the speakers. These sessions were recorded and are available on our YouTube channel

To share knowledge with those who could not join us and to serve as a review for those in attendance the slide decks and the posters are available on our website. We also have slide decks and recordings from past conferences that remain relevant and offer practical knowledge. Visit /about/conference-mtrls/.

Everyone at AXYS offers deep gratitude to all who learned from our amazing speakers, enjoyed bowling in Wisteria Lanes, gained new friends, participated in group and family portraits, met researchers, and joined support groups. Over 90% reported the conference met or exceeded their expectations and over 80% said they learned what they were hoping to learn. 

Numerous aspects of this event were taken from the suggestions offered after the 2017 conference including: lunch choices, conference t-shirts, having a place for teens and adults to hang out and play cards or board games, having a session with […]

2019-08-03T12:52:41-04:00Categories: All Variations|Tags: |

How AXYS accomplishes our mission: introducing the 2019 AXYS Committees

Much of the work AXYS does is handled by our committees.  The AXYS Executive Committee:
Gary Glissman (Chair)
Larry Rakowski (Vice-chair)
Erin Frith (Secretary)
Myra Byrd (Past-chair)

serves as the main body responsible for fiscal oversight, governance and nominations. They meet monthly and email frequently. We’re grateful for their hard work and dedication that furthers our mission every day.

The AXYS Programs & Services Oversight Committee helps create, monitor, evaluate and prioritize AXYS programs and services designed to assist families and individuals impacted by X & Y variations, and the professionals who serve them. The committee ensures that our programs and services are comprehensive, family-friendly, address all variations and are sensitive to the needs and wants of individuals with a variation.

We thank:
Hannah Acevedo, chair of In-Person Support Group Sub-Committee
Ginnie Cover
Erin Frith, chair of Online Support Group Sub-Committee
Carrie Riby

for their work in this area.

The AXYS Research Oversight Committee apprises the full board of research related to X & Y variations, seeks out and/or recommends ways for AXYS to become involved in or support research, reviews and approves requests by researchers who wish to recruit for research and/or promote their research findings, and monitors the organization’s role in any research.

We thank:
Sheryl Kelly (committee chair)
Sharron Close
Gary Glissman
Susan Howell
Larry Rakowski

for their work in this area.

The AXYS Fundraising and Development Committee assists the AXYS Board and Executive Director in fundraising activities. The committee helps identify, recommend, plan, execute and monitor fundraising opportunities.  This includes working with fellow board members, members of the support group network, major donors and the X & Y variation community at-large. The committees identify and recommends tools and techniques to help maximize fundraising results. The committee regularly apprises the board of opportunities, progress and challenges related to fundraising revenue.

Myra Byrd
Gail Decker

The board welcomes volunteers who wish to assist on these committees. We have opportunities of all sizes from a one-time task to ongoing planning. Send an email to our Executive Director Carol Meerschaert and let her know how you can help. She will connect you with the committee leader that best matches your talents and the time you can offer.

2019-08-06T10:59:50-04:00Categories: All Variations|Tags: |

AXYS Clinic and Research Consortium Spotlight: Children’s Hospital of Philadelphia

Klinefelter and All XY Variations Program at CHOP

In 2015, the AXYS Board of Directors created the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to organize, fund and expand a consortium that operates as independent clinics which collaborate with one another, share informational resources, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the SCA community.

One goal of AXYS is to ensure that all families impacted by X and Y chromosome variations have access to the best available evaluation and treatments. The ACRC is an important means of achieving that goal.

In 2018 the Klinefelter and All XY Variations Program at the Children’s Hospital of Philadelphia (CHOP) joined the ACRC. The clinic’s medical director is Maria G. Vogiatzi, MD, an attending physician in the Division of Endocrinology at CHOP. Her research includes many articles on SCAs including this article published last month: Endocrine aspects of Klinefelter syndrome. A co-author on this paper is Michelle McLoughlin, MSN, CRNP, CPNP-AC, a pediatric nurse practitioner in the Division of Endocrinology and Diabetes at CHOP. Michelle is well-known by many in the AXYS community who live in the Philadelphia region as she treats their children alongside Dr. Vogiatzi.  Beth Keena, MS, LCGC and Dr. Zackai provide the genetic counseling for the team.

The CHOP program, established in 2016, follows approximately 80 families. They held their first Klinefelter Patient Family Support Group Symposium on March 9, 2019. AXYS greeted families at the registration desk and shared brochures and information on our 2019 Family Conference. This Saturday morning event offered families scientific and practical information on many aspects of Klinefelter Syndrome from endocrine concerns to behavior.

“We were very excited to see so many families coming to our first support group symposium,” said Dr. Vogiatzi. “We feel that there is a great need for educational and support programs and we expect to hold more events in the future.”

For more information on the program at CHOP contact Office Coordinator Meagan Snow-Bailey or Nurse Practitioner Michelle McLoughlin at 215-590-3174 or send an email to AdrenalPubertyCenter@email.chop.edu

You can learn more on their Website: www.chop.edu/conditions-diseases/klinefelter-syndrome.

 

2019-03-23T16:58:19-04:00Categories: All Variations|Tags: , |

Research Suggests a Cure for Neuroticism

Article Title: Research Suggests a Cure for Neuroticism

Author: Susan Krauss Whitbourne, PhD

Date of Publication: July 11, 2017

“Although personality traits are theoretically unchangeable, as they are thought to be part of the fabric of the individual’s psyche, new research suggests some ways that people high in this quality can feel happier about themselves and their lives.”

Read more

2018-11-30T12:58:56-04:00Categories: All Variations|

Neuroses and neuroticism: What’s the difference?

Article Title: Neuroses and neuroticism: What’s the difference?

Author: Adam Felman

Date of Publication: January 9, 2018

“The word neuroses was originally coined in the 18th century to label a range of psychological disorders that could not usually be linked to a physical cause. It is often confused for neuroticism, a personality trait.”

Read more

2018-11-30T12:48:27-04:00Categories: All 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

2019-03-23T16:58:55-04:00Categories: All Variations|Tags: |

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

2018-10-15T12:07:35-04:00Categories: 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!

2019-03-23T17:01:00-04:00Categories: All Variations|Tags: |

Mid-Atlantic Support Group Social Brings Families Together

AXYS Mid Atlantic Support Group Summer Social group photoOn 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.”

AXYS Mid Atlantic Support Group Summer Social group photoAnd 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 […]

2018-10-26T12:52:30-04:00Categories: All Variations|