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ACRC Clinic Spotlight: MassGeneral Hospital Klinefelter Syndrome Clinic

The MassGeneral Hospital Klinefelter Syndrome Clinic is the most recent addition to the ACRC (AXYS Clinic and Research Consortium). They offer care throughout the lifespan, from caring for those with a prenatal KS diagnosis to adults of all ages. While the clinic is named for KS, they specialize in all male X and Y chromosome variations, including 47,XYY, 48,XXYY, and 48,XXXY. Individuals with 47,XXX can also receive care at MGH through a separate team within the Medical Genetics department.

This clinic was created in part due to the efforts of the NEXXYS Support Group. Several members of this group saw the need for a clinic in New England and worked with MassGeneral Hospital to establish the clinic.“Our multidisciplinary clinic was inspired by patient feedback, and it is our hope that those with Klinefelter syndrome and other sex chromosome variations can consider our clinic a “medical home,” says Emma Snyder, the Clinic Coordinator. “I am the first point of contact for new patients and an ongoing resource to patients with further questions about our services.”

Led by co-directors Frances A. High, MD PhD, specializing in Medical Genetics and Frances J. Hayes, MBBCh BAO, who specializes in Reproductive Endocrinology, the MassGeneral Clinic takes a multidisciplinary approach to providing coordinated care. They offer a comprehensive evaluation and work with your primary care providers to identify specialty needs, coordinate care, and improve outcomes.

The clinic offers a multidisciplinary team of medical, surgical, and neuropsychological specialists, and can refer to many other subspecialties at MassGeneral as needed. “We want to grow the ease of transition from pediatric to adult care,” says Emma. “As you reach your 20s, you often lose access to services in the education system but may continue to need support, including mental healthcare.” This clinic was designed to meet these needs.

New to the team is genetic counselor, Ashley Wong, MS. In her role in the KS clinic, Ashley focuses on the psychosocial counseling aspect of genetic counseling. She is a resource for patients and their families as they navigate various aspects of a KS diagnosis, particularly the neurodevelopmental components.

To learn more about the clinic or make an appointment, call Emma at 617-726-5521 or send her an email at esnyder2@mgh.harvard.edu. For MGH Trisomy X care, call Medical Genetics at 617-726-1561.

2020-01-20T12:19:17-05:00Categories: All Variations|Tags: , |

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 awareness advocates, special ‘retreat’ sessions for parents of infants and toddlers and another retreat on transitioning to adulthood. Most session topics came from our community including: special education, testosterone replacement, fertility, siblings and mental health.  Our thanks to all who offered more great suggestions that we will use to plan the next conference.

More from attendees in their own words: 

My son is not alone… I am not alone and most of all, it was NOT MY FAULT! I have felt so guilty about my son being diagnosed with xxy and always thought I had done something to cause this!” 

“I had a chance to speak with families/caretakers of other XXYY guys and realized that so many of them are going through the same things that our family is going through. It’s nice to know that you are not alone.” 

“I got so much out of the interaction with other KS men and their family members. I shared a lot with them and learned a lot from them”

“Networking was huge. Also great for my young adult son to meet others and meet some great role models.”

“The most valuable part of the conference for me was meeting and interacting with the other Trisomy X families, especially the teens. I loved them all.” 

“Our first conference… day one…what we have learned and the amazing people we have met…there are just no words to express the love and respect 😊…in just one day, we have gained more information, and had things explained to us by the EXPERTS in AXYS that our doctors couldn’t in 11 years!!…And on top of the brilliant minds….each and every Doctor and the entire AXYS family was more caring than the next!!!!!…the information we received today will take us days to digest …lol ….we have learned things today….that our own doctors are misinformed about!!!…This conference will make a difference not just in my sons life ….but in every one of his doctors lives from this day forward ….THANK YOU”

“Not enough words to describe the feeling of satisfaction, friendships formed, knowledge gained, great speakers, good food, amazing Emory Conference Center, and so much more… Thank you Gary GlissmanCarol Meerschaert, and everyone from AXYS and elsewhere who worked so hard to make this Conference such a success! Grateful, hopeful, optimistic and ready to fight harder through this journey. Stronger together as we move forward to break barriers for X and Y Variations!”

(Photos by Stuart Hasson Studios)

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

2019 AXYS Family Conference, Atlanta, Georgia

2019 AXYS Family Conference Videos

Conference sessions recorded during the webcast on June 29th and 30th.

Presenter

Presentation

Relevant Variation

Allan Reiss, MDA Roadmap for Advancing Knowledge and Clinical Practice of Brain & Behavioral Effects of X and Y Chromosome VariationAll
Allan Reiss, MD and Vanessa Alschuler, BABrains, Genes, And Puberty: Testosterone Replacement Therapy in Klinefelter Syndrome47,XXY (KS)
Armin Raznahan, MD, PhDThe NIMH Study on X & Y Chromosome Variations - Goals, Study Design, Key Findings & Future PlansAll
B. Michelle Schweiger, DO, MPHMetabolic Syndrome in 47,XXY47,XXY (KS)
Carol Meerschaert, AXYS EDWelcome to the 2019 AXYS Family ConferenceAll
David Marcus, PhDThe Neuropsychological Evaluation and What It Can Tell ParentsAll
Erin Torres, MSN, CRNP and Srishti Rau, PhDPsychiatric and Neurodevelopmental Comorbidities in XXY47,XXY (KS)
Nicole Tartaglia, MDeXtraordinarY Kids Research in ColoradoAll
Rebecca Wilson, PsyDHow Research Can Benefit Families and PatientsAll
Rebecca Wilson, PsyDSocial Skill Challenges, Toddlers to TeensAll
Shanlee Davis, MDClinical Trials in X and Y Variations: Doing Research that MattersAll
Sharron Close, PhD, MS, CPNP-PC, FAANRoadmap to ResearchAll
Sophie van Rijn, PhDResearch Aims: TRIXY National Center of Expertise47,XXY (KS) | 47,XYY | 47,XXX

2019 AXYS Family Conference Session Presentation Slides

Presentation Slides are in PDF Format

Presenter

Presentation

Relevant Variation

Allan Reiss, MDA Roadmap for Advancing Knowledge and Clinical Practice of Brain & Behavioral Effects of X and Y Chromosome VariationAll
Allan Reiss, MD and Vanessa Alschuler, BABrains, Genes, And Puberty: Testosterone Replacement Therapy in Klinefelter Syndrome47,XXY (KS)
B. Michelle Schweiger, DO, MPHMetabolic Syndrome in 47,XXY47,XXY (KS)
David Hong, MDUse of Psychiatric Medications for Serious Mental Health ChallengesAll
David Marcus, PhDThe Neuropsychological Evaluation and What It Can Tell ParentsAll
Dorothy Boothe, PhDTransition to Work and Higher EducationAll
Erin Frith, MEd and Talia Thompson, PhDNavigating the IEP Process and BeyondAll
Erin Torres, MSN, CRNP-PMH and Srishti Rau, PHDPsychiatric and Neurodevelopmental Comorbidities in XXY47,XXY (KS)
Hannah Acevedo, LEP, ABSNP, BCBAPositive Behavior Supports for Home and SchoolAll
Leen Wehbeh, MDMedical Management of Klinefelter Syndrome XXY in Adults47,XXY (KS)
Maria Vogiatzi, MDIndependent Living Skills for Individuals with X and Y Chromosome VariationsAll
Nicole Tartaglia, MDeXtraordinarY Kids Research in ColoradoAll
Paul Dressler, MD, MPHTransitioning from Pediatric to Adult HealthcareAll
Rebecca Wilson, PsyDHow Research Can Benefit Families and PatientsAll
Shanlee Davis, MD, MSHormones in XXY, XXYY, and XXXY47,XXY (KS) | 48,XXYY | 48,XXXY
Sharron Close, PhD, MS, CPNP-PC, FAANRoadmap to ResearchAll
Sophie van Rijn, PhDCognitive and behavioral development of young children with 47,XXY, 47,XXX, and 47,XYY aged 1 to 6 years: first results of the TRIXY study47,XXY (KS) | 47,XXX | 47,XYY
Sophie van Rijn, PhDResearch aims - TRIXY National Center of Expertise47,XXY (KS) | 47,XXX | 47,XYY
Sophie van Rijn, PhDCognitive and behavioral development of children with 47,XXX: first results of the TRIXY study47,XXX
Susan Brasher, PhD, CPNP, RNWorkshop for Brothers and Sisters of those with an X or Y VariationAll
Virginia Cover, MSW, MBATransition to Work, Independence, & AdulthoodAll

2019 AXYS Family Conference Poster Presentations

Posters are in PDF Format

Poster

Relevant Variation

Association of Motor Skills with Adaptive Functioning in Children with 47,XXY Klinefelter and XXYY Syndrome47,XXY (KS) | 48,XXYY
Characterizing the Anxiety Phenotype in Trisomy X47,XXX
Developing a Model for the Transition from Pediatric to Adult CareAll
Early Therapies, School Supports, and Educational Outcomes for Students with Sex Chromosome VariationsAll
Executive Functioning of Children and Young Adults with an Additional X Chromosome47,XXY (KS) | 47,XXX
Exploration of Health Concerns and Needs for Care in Women with Trisomy X (47,XXX)47,XXX
Family Experiences and Attitudes About Receiving the Diagnosis of X & Y Chromosome Variations - Preliminary ResultsAll
Living with XXYY - Voices of Patients and Caregivers48,XXYY
NIMH Intramural Research Program Study of X- and Y-Chromosome VariationsAll
Relationship of Physical Function and Psychosocial Health on Quality of Life in Individuals with 48,XXYY - Preliminary Results48,XXYY
2019-07-19T11:49:21-04:00Tags: |

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

2018-11-30T12:58:56-05:00Categories: 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

2018-11-30T12:48:27-05:00Categories: 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: |
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