AXYS is thrilled to announce that Justin Dausch has joined our board. Justin served as a volunteer for AXYS in the area of finance in 2019. An attorney licensed to practice in Pennsylvania and New Jersey, Justin can be called upon to guide AXYS on legal matters. His main role on the board will use his expertise on finance and compliance. “I looking forward to utilizing my professional experience to give back to the community,” said Justin.
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 Eleanor at 617-726-5521 or send her an email at escimone@mgh.harvard.edu. For MGH Trisomy X care, call Medical Genetics at 617-726-1561.
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.
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.
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, 2018, 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.
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.)
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!
