All Variations Archives - Page 2 of 11 - The Association for X and Y Chromosome Variations

ACRC Accomplishments

In 2015, the AXYS Board of Directors voted to approve the development of the AXYS Clinical and Research Consortium (ACRC). The two goals that AXYS defined at that time were to improve the availability and the quality of services to the X&Y variation community. As the ACRC grew, the original goals were refined to be as follows:

Make life easier for those seeking evaluation and treatment.
Bring consistency to treatment that is consensus and/or evidence-based.
Advance the overall X&Y variation field through coordinated efforts including research.
Bring clinical excellence to the field of X&Y variations.

Though each clinic operates independently, as members of a consortium, they collaborate with one another, share informational resources, and have the opportunity to participate in joint research projects.

In addition, AXYS organizes annual meetings of the consortium at which members meet to discuss topics important to the X&Y chromosome variation community. AXYS works to ensure that all families impacted by any of the chromosome variations have access to the best available evaluation and treatment or treatment recommendations.

Timeline of the ACRC

(Click on the year to see the accomplishments for that year.)

2014

• AXYS brought on Robby Miller as an experienced consultant to assist AXYS in creating the ACRC

2015

First meeting of ACRC 2015

• The formation committee, Dr. Tartaglia and Susan Howell of the eXtraordinarY Kids Clinic in Colorado, Jim Moore the AXYS Executive Director and Robby met. The consortium was formed.

• First ACRC meeting held in Denver

• AXYS Clinical Needs and Desires survey, supported by AXYS, Emory University and PCORI began

2016

• AXYS Clinical Needs and Desires survey concluded. Results presented to ACRC by lead investigator Dr. Sharron Close

• Launched with 8 founding clinics: Atlanta, Baltimore, Chicago, Denver, Los Angles, New York, Stanford, Wilmington

2017

• ACRC meets in Denver

• Discussed need for Adult clinics

• Added clinic in Wake-Forest

2018

• ACRC meets in Chicago

• Began Consensus Documents

• Added clinic in Philadelphia

2019

• ACRC meets in Atlanta

• Conducted study to pilot a process to form clinics for adults, funded by the WITH Foundation Grant. Study led by Sharron Close at Emory University and Susan Howell at Colorado Children’s Hospital.

• AXYS awarded grant from the Kosloski Family Foundation to create CME course on Klinefelter Syndrome in Adults

• Added clinics in Boston and Cleveland

Photo of 2019 ACRC meeting

2020

• First virtual ACRC meeting

• Held quarterly ACRC meetings with dedicated discussions on telehealth, Families of Color and Adult clinics

• Added clinic in New York, second clinic in Philadelphia for adults

• Added first international clinics in Vancouver, Canada and Århus, Denmark

• Expanded ACRC to include clinical researchers:

- Megan A. Allyse, PhD. Mayo Clinic, United States
- Christine Disteche, PhD, University of Washington, United States
- Claus Gravholt, MD, PhD, Aarhus University Hospital, Århus, Denmark
- Armin Raznahan MD, PhD, National Institutes of Health, United States
- Sophie van Rijn, PhD, Leiden University, The Netherlands

• Published first Consensus Documents

2021

• Added international clinic in London, UK

• Supported by grants from AXYS and The XXYY Project, GALAXY Registry project launched

2022

• The XXYY Project launches ACRC Clinic Visit Stipend

2023

• ACRC Clinic Visit Stipend expanded for all X&Y variations

• Added 2 ACRC Clinics (Sacramento and Chicago) for a total of 18 clinics

Rick Frith2023-10-25T12:01:21-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|Tags: ACRC|

The Expert in the Room

Article Title: The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies

Authors: Richardson, Riggan, and Allyse

Date of Publication: November 2, 2020

“Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs.”

AXYS is Committed to Pursuing Equity

Until now, AXYS has not explicitly stated our stance on the Black Lives Matter movement. AXYS acknowledges the disparity in diagnosis, treatment, and support of people of color. Instead of just a display of solidarity, we wanted to share with you our goals and future actions to work towards equity for people of color within the AXYS community.

Recently, AXYS held our first Families of Color call. The fundamental message, as said by Dalene Basden, is that people and families of color need AXYS to say “we are listening, and we are here to support you.”

After thought and discussion, and with direct input from the participants on the Families of Color call, AXYS has the following goals:

To support people of color in receiving equitable healthcare, education, and social support
To integrate information on the impact of systemic racism in the healthcare system into our CME courses
To better connect people with similar ethnic and cultural backgrounds for support within our community
To increase accessibility to research opportunities for people and families of color
To increase diversity of location for future in-person meetings

To achieve these goals, we will be taking the following steps:

Shifting the focus of our next ACRC meetings to discuss how each of our clinics can support equity
Modifying our “Stay Connected” form to include requests for demographic information including race and gender expression
Encouraging researchers to report information based on race so that families can take more specific information to their medical providers
Going through our professional directory to identify providers of color
Creating research-based additions to our CME courses
Continuing our conversations with people and families of color to reflect on AXYS’s past, present, and future actions

As individuals, as a community, and as a country, there is so much work that needs to be done to bridge the gap between the ideals of our society, and the realities for people of color. Another statement during the phone call that resonated with me was: “I have the power to make things happen.” I know I can count on the AXYS community to not only know that we can do better, but to take action.

-Erin Frith, AXYS Chair

Rick Frith2020-10-13T12:27:53-04:00Categories: All Variations|

AXYS Welcomes New Board Member

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.

Rick Frith2020-02-13T15:44:37-05:00Categories: All Variations|Tags: AXYS News|

Emory University’s Amy Blumling: “Learning about things larger than you”

Article Title: Learning about thing larger than you

Author: Pam Auchmutey (Emory University, Nursing Magazine)

Date of Publication: Fall 2019

“As a School of Nursing doctoral student, Amy Blumling provides much-needed care to a special patient population at Emory Healthcare. Twice monthly, she and other providers see patients at the eXtraordinarY Clinic, the Southeast’s only clinic for children with sex chromosome disorders.”

eXtraordinarY Kids Research Newsletter | Volume 1, Issue 1 | Fall 2019

We would like to congratulate the eXtraordinarY Kids Clinic of Children’s Hospital Colorado on the release of their 1st research newsletter and are proud to share it with you:

Laurie Milton’s Story

Due to speech and language delays my son started in special education preschool. When my son entered kindergarten, his teacher saw similarities between Kent and another boy who was diagnosed with XXXXY. We took her advice and got genetic testing for our son.

We learned back in 1994 that our son did not just have one extra X as we suspected but has an extra X and an extra Y; he has XXYY.

Our doctors suggested we not read the older literature that painted a horrid picture for our son but instead told us to contact KS&A and join the support group. As it turned out, Melissa Alystock lived less than a mile from us. Our kids attended the same schools.

Melissa Alystock started holding conferences to gather people with X and Y variations together. She sought and received grants from pharmaceutical companies to support these events. In addition, she gained the professional support and services of health care professionals who met with families at these events. It was life changing for many to meet with a doctor, genetic counselor or other professional that was knowledgeable about X and Y conditions.

Melissa and her husband needed help managing this fast growing organization so she asked me to join the board and then I served as a moderator for the listserv. I saw the challenges trying to meet the needs of grown men with X and Y variations as well as simultaneously meeting the needs of parents of younger children without overwhelming them. There is only so much many of us can process at once, so some families step back from support groups but then later rejoin either when they need assistance or when they are in a position to offer it.

I financially support AXYS (The XXYY Project) and encourage my family to do so also. This assures there is help, information and research for all when it is needed.

Rick Frith2019-08-30T16:17:34-04:00Categories: 48,XXYY, All Variations|Tags: 30th Anniversary|

AXYS Executive Director Visits Michigan

My favorite part of serving AXYS as your Executive Director is getting to know our community. In mid August I was in Michigan visiting my family and had the pleasure to meet 7 families in our community.

Jennifer, a Mom of a 2-year-old with XXXY and I were hosted by Elisha, a mom of a 2-year-old with Trisomy X. Elisha lives in the city where I grew up. Both Moms shared the wish that the support groups shared more triumphs and positive stories as well as answering questions when problems arose. With a toddler, you have so much ahead of you, so the hope the positive stories offer are greatly needed. So everyone reading this, please keep sharing positive photos and stories in our support groups.

That evening, I had dinner with Jaime and Jeff and their daughter. They are the parents of a teen with XXY, who would have come with his family but had a much more fun offer from his friends. Jaime has attended a few conferences, including our the 2019 AXYS Family Conference in Atlanta. She shared her thoughts on the conference, including the desire for more teen activities and more sibling activities.

The following evening I met with Kathy, who also attended the conference. Our conversation focused on her adult son with XXY, and the work it takes to get SSI. I shared the relevant videos from our YouTube Channel. Kathy gave me candy from Bay City’s most famous candy store St. Laurent Brothers, where Madonna stops to get candy when she is in the area.

On Friday, Wendy and her son John, a 30-year-old with XXY, drove 75 miles to meet me, and Dan and Sonya who have a son with XXY. Wendy offered to share brochures with doctors in Grand Rapids. Thank you Wendy!!

I met Nancy who has a 30-year-old son with XXYY and Brandy and her son 15-year-old XXY son at Ray’s Ice Cream. I used to go there as a child and I had a Boston Cooler, a drink only those from the Detroit area will know.

Kevin and Joy—thanks for reaching out and I hope we can connect the next time I get to Michigan.

Cami—I hope we can meet the next time I’m in Bay City.

Rick Frith2019-08-26T13:21:49-04:00Categories: All Variations|

Stefan Schwarz Remembers

When KS&A was formed in 1989 by an Ann Landers letter that Melissa Aylstock had written, the organization took off from there. Melissa was very welcoming to new families, and to men newly diagnosed with KS. She ran the organization practically by herself. While her husband assisted, she was the webmaster and handled listserv duties when that started in 1997.

I first met Melissa and her husband Roger at my first national conference in Bellevue, Washington in July 1996. Though I was a much different person back then, I finally met other men like me and also got a taste of how to start and run a support group. I brought that information back with me to Boston — where I had recently moved — and Melissa assisted me with getting the Boston area/New England based support group going. Melissa stayed with me in my Boston area apartment when she and I attended a genetics conference in the Boston area, where I gave a presentation. She also attended the second or third support group held in the Boston area.

So I got involved immediately just after returning from the 1996 national conference and wore a lot of hats and did a lot of work for her and the organization. I presented two sessions at the 1997 conference, as well as at the 1998 conference. I co-chaired the national conference in Baltimore in 1999 and planned a good conference with added bonuses as we were celebrating the 10th anniversary of the organization.

I was recruited back to KS&A as a pediatric lead (don’t remember the exact title) and I gave my all in that role for about 3 or 4 years. I handled other roles during that time, but kept true to myself with my personal KS website and supported anyone who needed my assistance throughout the world.

Between the early part of 1997 and the end of 1999, I was putting in about 40 hours per week of volunteer work, while working 40 hours of my full-time job. Because of my volunteer work, I considered getting my master’s in genetic counseling and even started a program in late 1997 taking classes to see if it was a good option for my future.

-Stefan

Rick Frith2019-08-31T14:04:26-04:00Categories: All Variations|Tags: 30th Anniversary|

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 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.

Rick Frith2022-10-18T12:09:41-04:00Categories: All Variations|Tags: ACRC, AXYS News|

All Variations

2014

2015

2016

2017

2018

2019

2020

2021

2022

2023