AXYS shares articles about our community members to help you gain understanding of X and Y chromosome variations on a personal level. Please enjoy this article and learn about XYY. Note: The name “Steve” is a pseudonym used upon request.
You’d notice Steve. A stocky guy, 6’6’’ tall, is hard to miss. But like most men with an X or Y variation, medically known as a sex chromosome aneuploidy (SCA), everyone missed his condition.
As a child, Steve liked to sit quietly in the back of the class and daydream. He was a smart kid from an academically accomplished family. His teachers and family thought he was just not applying himself. “It was tough to hear the comments from ‘why are you acting so immature?’ to ‘what’s wrong with you?’ over and over.”
He knew he was different and that school was harder for him, but nobody could explain why. In middle school his family finally got him tested. The child development experts diagnosed him with ADD and dyslexia and put him on medication. Steve did not react well to the meds; they gave him night terrors.
Not only was school difficult, he had physical differences too. “I had low muscle tone,” said Steve. “That made sports challenging. I’d rather do individual activities like hiking.” His parents required him to play sports. That was not enjoyable for a boy who had a harder time keeping up physically, found it hard to focus, and who missed social cues. Steve was not timid physically—he loved extreme sports like glade skiing. He also loved solitude and quiet. “I’d go hide in a corner and read a magazine.”
In spite of his challenges, Steve made it to college where he was an average student. His love of learning served him well. “I like to go to museums, travel to places and explore. Reading about places is not enough.”
Despite social challenges, he married a college professor. When they had trouble getting pregnant they discovered he was not fertile because he produced no sperm. A low sperm count is not that unusual but to produce zero sperm was puzzling.
Steve wanted to know: why he did not produce any sperm? Why did he get migraines? Why was his muscle tone low? Why did his hands get shaky? Why was he so much taller than his 5’ 9” father? But then came the Internet. Steve began to research his medical issues.
He came across something called Klinefelter Syndrome and took his knowledge to his primary care doctor. The doctor agreed to order some tests, but Steve, tired of waiting for answers, checked off a few more boxes on the lab sheet making sure a battery of tests was ordered, increasing the likelihood that he’d finally get the answer he sought. It was good thing he did, as he discovered his hormone levels were off.
Steve was referred to an endocrinologist who ordered a karyotype (a picture of a person’s chromosomes) that finally gave him the answer. He had an extra sex chromosome. But not as he suspected–an extra X; Steve has an extra Y.
He found a doctor that had treated men with XXY but never XYY. The condition is half as common–XYY affects about 1 in 1,000 males. In some individuals, the manifestations of XYY are mild and barely noticeable, while others have more severe symptoms.
Steve read every research article on XYY he could find online. He learned that about 30% of those with XYY are diagnosed with an autism spectrum disorder. That explained his social issues. While most males with XYY have intelligence in the normal range, many have language-based and other learning disabilities. Other possible concerns include social skill disabilities, immaturity, low self-esteem, ADHD, impulsivity, and anxiety or mood disorders. After learning all of this Steve thought, “This sounds like me.”
The difficulties a person with XYY has can be alleviated with medical and educational interventions. Speech and motor skill difficulties respond to therapy. Anxiety and mood disorders or ADHD can be treated with behavioral therapy, occupational therapy, and sometimes, appropriate medication. Special education accommodations and teaching methods can help those with XYY achieve academic success despite learning disabilities. Some individuals with XYY have significant anxiety related to school, and a change to a smaller classroom environment or an alternative learning setting, including part-time home schooling, can help. If only Steve had been diagnosed sooner.
Sadly, when Steve got his diagnosis, his wife left him, citing his diagnosis. They had adopted a child who Steve raised as a single parent. Steve has a great job as the Student Center Administrator at a university; he’s been there over 30 years. “I learned that I need a hands-on job,” said Steve. “I would not do well sitting behind a desk.” Steve described how he, like everyone, had to find his niche. He recommends that everyone “find where you fit in life.”
It has not always been easy. His job was jeopardized by misunderstandings with a manager, but disclosing his diagnosis to the HR department and filing a claim with the EEOC straightened out the problem. “I knew the sudden poor performance reviews, when I had been a stellar employee, were discrimination, so I took action.”
Today Steve is raising his son and works to educate healthcare providers and parents about XYY. “It is not that bad,” he says. Steve hopes that someday all doctors and educators will be well versed in sex chromosome aneuploidy (SCA) so people affected get diagnosed very young and can receive the interventions that make life easier. “I also hope they will treat the whole person, not just the symptoms. It is a holistic view that aids diagnosis of an SCA and really helps children.”
Steve served on the board of AXYS, the Association for X and Y Variations. He refers parents with questions to their website genetic.org and their toll free Helpline (888-999-9428) or helpline@genetic.org, where trained volunteers answer questions free of charge. He supports AXYS’ efforts to develop clinics for adults with SCA. “We need to know what to expect as we age,” said Steve. “A study back in the 80s reported that the average life expectancy of a man with XYY is 10 years less than average. For an XXY guy it is 5 years less. Maybe we can change that.”
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.
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.
IDEA requires a multidisciplinary evaluation to determine if the child qualifies for special education services. This means that professionals from a variety of fields (medicine, psychology, occupational therapy, etc.) and the parents of the child collaborate to assess the child’s strengths and needs and determine appropriate educational services.
Every child eligible for special education has either an Individualized Family Service Plan (IFSP, for children birth to age 3), or an Individualized Education Program (IEP, for children age 3-21). Both programs specify the details of a child’s educational plan.
Intervention varies and is based upon the child’s individual needs. Areas that may be addressed include: speech and language, cognition, behavior, sensory-motor and academics. Settings range from home-based programs for infants to a variety of school-based classrooms for older children and adolescents.
Resources
This section provides a series of links to other resources that may be useful to some persons dealing with X and/or Y aneuploidy conditions. AXYS is aware that there is wide variability in the signs and symptoms associated with these conditions and not everyone will require the same resources. However, we’re hopeful that a number of these resources may be useful to a significant percentage of this population.
Home School Legal Defense Association (The HSLDA is a legal support organization that specializes in home school issues and offers some free resources. However, please be aware that they may suggest that you become a paid member to receive full service and information. Users should be aware of their model and proceed accordingly.)
SEA Homeschoolers (Secular, Eclectic, Academic): They hold conferences, workshops, webinars, and have a very helpful website covering most aspects of homeschooling including transitioning out of high school to whatever comes next.
Most states have Facebook groups for homeschoolers; for example Delaware has groups for all homeschoolers (Homeschool Delaware) and for specifically secular homeschoolers (Delaware Secular Homeschoolers) to offer support, organize live, in person classes, arrange meet ups and park days and field trips, organize laboratory classes, discuss scholarships, local laws, swap materials at lower cost, and more.
The Well-Trained Mind: From the author of “Rethinking School” and featuring some really innovative approaches for different types of learners, this site includes sections for children with learning differences (See the section on “Differences, Disorders, and Disabilities”) and giftedness as well as the average kid. The author, Susan Wise Bauer, literally wrote THE major book on homeschooling (“The Well Trained Mind”) and it is popular with both religious and secular families for providing ideas about thinking about education as well as practical, everyday strategies for making a homeschool plan. The author is a professor at the College of William and Mary, homeschools her own kids, and was homeschooled herself. Related to this site The Well-Trained Mind Academy, which offers live online classes in most middle and high school subjects for a pricey, but generally worthwhile fee. In those classes, students receive graded papers, instructor feedback, and classroom interaction online. The author has written some specific curricula that seems to suit kids with issues such as dysgraphia and writing difficulty, too— I’m a big fan of her elementary program, “Writing With Ease.”
Online G3 is a site for online homeschool courses for gifted kids (because yes, kids with X and Y variations can also be educationally gifted despite their learning differences— this is called being 2E, or “twice-exceptional”). This site is unique in that it provides good course descriptions for its live, interactive classes taught by experienced teachers, then allows parents to make the decision about whether a particular class is right for their child— no expensive test or proof is required. It is recommended that parents be realistic, as the classes will appeal more to gifted kids who tend to “drive the bus” than to reluctant learners, but for the right kid, they are fun, encouraging, interactive, varied, and challenging.
Bravewriter offers online classes and curriculum for purchase for teaching by the parent for helping anxious writers or encouraging the aspiring author. Online classes encourage kids to comment (kindly) on one another’s work, even if a particular student is only typing out one or two-sentence responses at first, and the instructors ask questions to help draw out more detailed answers, conversationally, in a message-board format.
CK-12 is a FREE website with high-quality textbooks available online, with many upper-level books including lab manuals and teacher manuals as well (also free). Because the books are online, they include embedded media. Parents can sign up for a teacher account and create a program to assign to their kids and monitor progress, or do it more informally.
There are other resources available, and one of the parents of an XXY child has offered to help other parents looking for more information. You can reach Jen Driscoll at XXYMidAtlantic@gmail.com with questions.
Adapted Physical Education Guidelines Note: While these guidelines are specific to California schools, we think readers may find them helpful no matter where you live.
Special thanks to the National Fragile X Foundation for the use of some content.
Disclaimer: AXYS provides the above information to assist families and professionals in providing the best, possible educational experience for children with an X or Y variation. Inclusion in this list of resources does not imply endorsement by AXYS of any product or service and parents are encouraged to fully research products and services before making any commitments or purchases.
One way to determine if each different type of sex chromosome variation has distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis.
Parents would be asked to submit electronic facial images of their children (affected children at different ages) and share their chromosome findings but no other protected health information. We would try to define the facial features for each type of sex chromosome variation and study the facial features over different ages, through a private online portal that could be made available to the support group.
This online portal includes an informed consent section, and directions for patients or their families to submit photographs. Affected boys and girls with extra sex chromosomes would be the primary study group. All submitted photos will be then transferred to the Face2Gene account of the geneticists or clinicians working with AXYS or the principal investigator for this study. Once sufficient numbers of photos have been submitted, FDNA would run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time. AXYS could share the portal’s online address and access code with your members, through the website, newsletter, social media, etc. We have set up such a portal for you to experiment with:
Families need to “sign” that they have read and understood the content of this page. If families do not wish to state their real names or email, they are also free to do so.
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.”
AXYS Stands Against Stigmatizing Words used to Market a Film
AXYS has a deep level of concern and disappointment with the language used in marketing the film Rain Beau’s End. Although we have been in touch with the production team for 18 months, they have not responded to our requests to change the way they are marketing and describing the movie. Using false and disproven assumptions about a group of people simply to grab the attention of potential movie viewers shows a lack of compassion for those who could bear the brunt of this misinformation. This feels cruel, especially when a few changes in the choice of words wouldmitigate the damaging impact.
AXYS cannot endorse this film as we have not seen it. We have asked to view an advance copy, but have received no response to our request.
When the movie was initially brought to our attention, we had hopes that it would depict a family dealing with the struggles and joys of having a child with XYY. This still may be the case, but we feel the language used in their promotional materials is purposefully negative and sensational. We do not support their decisions. We recognize that promoting false stereotypes about people with XYY can be stigmatizing and harmful.
AXYS is committed, now and always, to supporting those with X & Y chromosome variations and their families.
New ACRC Clinic in New York City
AXYS is thrilled to announce that the Weill Cornell Medicine Klinefelter Syndrome Clinic, Weill Cornell Medical College in New York City has joined the ACRC. They see all X & Y variations; they see children and adults. Learn more on their website.
Welcome Dr. Lilian Cohen, MD MPH!
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.
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.
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.
AXYS is thrilled to announce that three members have joined our board in June 2019: Stuart Howards, Andrea Millett and Bill Mulkern.
Stuart S. Howards, MD will serve as the AXYS treasurer. He is a professor emeritus at the University of Virginia Medical School and an active professor of Urology at Wake Forest School of Medicine. Dr. Howards has vast experience having served as a board member of the American Board of Urology and was their CEO for 15 years. He served as the treasurer for the American Society of Reproductive Medicine for 15 years. “I’m happy to serve as the AXYS treasurer, says Dr. Howards, “I want to assure our financial health and grow our funds so we can serve the X and Y community.”
Andrea Millett has a degree in psychology and has worked as a retail manager and preschool teacher. Andrea says “I have been involved in the AXYS community for about 10 years, watching it grow has been incredible. From being part of the ambassador team, to gaining knowledge from doctors and peers from the PCORI scientific conference, we’ve brought together similar minded people who continue to thrive for change. I want to assist in creating and achieving new goals for our future.”
Bill Mulkern is the current leader of the New England XXYs Support Group (NEXXYS), and a soon-to-be-retiree from the retirement plan law and administration field. Bill says “I want to take this opportunity to again thank Stefan Schwarz, who was generous and gracious in his support of me when I was diagnosed in early 2000. A few months after diagnosis, I attended my first meeting of the New England group he had founded, and it was then that I volunteered to become co-chair when he announced that he was leaving. And here I still am, 19 years later.”
Welcome Stuart, Andrea and Bill!
How AXYS accomplishes our mission: introducing the 2019 AXYS Committees
Much of the work AXYS does is handled by our committees.
Klinefelter and All XY Variations Program at the Children’s Hospital of Philadelphia
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.
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.
AXYS Awarded Grant to Develop Adult Specialty Clinics
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.
Exciting Leadership Changes to Support AXYS’s Goals
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.
Extraordinary Care: Families have a place to turn for help with sex chromosome disorders
“Shy at first, Emma warms up quickly when Sharron Close, the pediatric nurse practitioner at the eXtraordinarY Clinic at Emory, notices the doll she’s holding.”
Parent and attorney Sheryl Kelly was recently voted onto the AXYS Board of Directors. Sheryl has already been very active in and supportive of the AXYS advocacy efforts and her more formal role will now only add to the knowledge and insight she brings to our mission. Sheryl and her family have also been financially supportive of AXYS and you can learn more about their most recent matching grant here.
Bregante Matching Grant Reached
Thanks to the generosity of the Bregante family, and our many generous donors, AXYS has matched the $5000 grant provided by the Bregante’s. This $10,000 will go a long way in helping us improve our informational and educational materials with an emphasis on services for adults. Learn more about the Bregantes here.
Alexis Rakowski of Oconomowoc, whose younger brother Jason has a chromosome variation known as 48 XXYY Syndrome, led a letter-writing campaign to get Gov. Scott Walker to recognize May as X & Y Chromosome Variation Awareness Month.
AXYS supports our community with in person and online groups. These groups are facilitated by volunteers who schedule the programs and often arrange for speakers on topics of interest to individuals and families affected by X & Y variations. These groups offer the opportunity to share experiences with others and to learn about resources that they have found valuable. Some of our groups meet at AXYS Clinic and Research Consortium clinics. Other groups meet in libraries, medical centers, or parks.
AXYS has official online support groups for each variation. AXYS also shares information about other groups, both in person and online, that may be helpful to our community.
Registration for or indication to attend any AXYS event indicates your agreement to abide by the AXYS Activities Conduct Policy.
National Support Groups Serving All X & Y Variations
Our support group helps families who have been newly diagnosed, toddlers, kids, teens and adults living with X and Y variations. We currently offer education workshops with our local school districts, as well as community and education outreach. We also offer assistance with IEPs and Regional Center advocacy, provide support groups for all ages, hold an annual picnic, and support research through fundraising activities.
Purpose: This group will provide support to those families and individuals with X and Y variations who are in search of more information in NC, SC, GA, AL, FL, TN, MS and KY. We will provide support group meetings at various locations in and around Atlanta, GA and occasionally have social events in more comfortable venues for fun for all.
Condition(s) Served: (XXY, XYY, Trisomy X, Other, All) ALL
Meeting Schedule: Meetings will be announced as scheduled
Typical meeting Location: Sydney
The group also runs a “secret” Facebook support group: Australian X & Y Spectrum Support. This group is “secret” (a Facebook privacy setting) to protect members’ privacy.
Group mission:
To provide support and information to parents of individuals with sex chromosome variations including XXY, XYY and more
To provide support and information to individuals living with XXY (Klinefelter Syndrome), XYY and other sex chromosome variations
To provide awareness and information to education and health professionals and the wider community on sex chromosome variations; to advocate and lobby on behalf of our community
Support Group News:
Australian X & Y Spectrum Support (AXYS Australia) will have a conference on Saturday 10th November in Melbourne for all adults, parents, families, health professionals and educators linked to X & Y chromosome variants. There will be a variety of fantastic speakers.
The group currently serves 6 other families in Greece (individuals with XO, XXX, and XXY).
Group leader, Irene Simeonidou, provides info and translates documents for them.
Her comments:
We are planning to create a Greek organization (let’s call it support group) for families affected by X & Y chromosome disorders. But for now it’s just informal “meetings” through the Internet and friendly talking on the phone. We don’t have specific arranged meetings yet (we are working on it though).
I’ll create a Facebook page in Greek, and there will be a website, too. For the time being, there is only a Greek Facebook page for the rights of people with disabilities and special educational needs in Cycladhes, that I am running and checking every day, so I can also be reached there.
The AXYS XXY Klinefelter Global Support Group is managed by AXYS’s official Facebook group for XXY (to protect our members’ privacy, the group is members-only and requires members to sign up).
Klinefelter’s Syndrome (47XXY) Support Group for the Rocky Mountain Region, including UT, CO, WY, ID, & MT. Adults and parents with KS kids are encouraged to join.
A Facebook page and website developed by Ryan Bregante, an adult with Klinefelter Syndrome. His mission is to help foster a new community and spread positive awareness about Klinefelter Syndrome/XXY for the world to see.
Those interested in joining should contact AXYS by email: info@genetic.org
Our KS Sons Support Group:
The support group is for Parents of Young Adult 47,XXY Sons (18 and up). This virtual support group was started in September 2021 after one of the members attended the AXYS 2021 Virtual Family Conference and met other families with XXY sons around the same age. We noticed our sons were beginning to transition from their pediatric doctors to “adult” medical doctors due to their age.
We currently have about 8 families in the group from NY, Colorado and California. We have a Directory (which includes our name and cell number) for families that provide consent to share their information. We meet virtually via Zoom on the 1st Wednesday of each month at 6 pm Pacific Time (9pm Eastern Time). We welcome parents of young adults 47,XXY ages 18 and up.
The primary language of this group is Spanish. Spanish-speaking persons all over the world are welcome to participate.
The aim of the 47XYY Spain group is to support affected individuals, their families, caregivers, and close friends by sharing, learning, and helping them with information, meetings, remote events, and webinars, etc. in Spanish. Our North Star includes having medical advice, active participation in clinical studies and trials, and legal support to help members to have better access to healthcare and social security funds, in Spanish. Our vision is a society where XYY individuals are diagnosed early, fully integrated, (academically, socially and professionally) supported, and recognized.
Póngase en contacto con Silvia Mann en silvia.valencia@gmail.com para ser agregado a el grupo de WhatsApp. Es dedicado a brindar apoyo a padres de familia de niños con variación XYY.
Frequency of meetings: quarterly initially but would like to increase to monthly based upon group interest
This is a group for parents/guardians of children with X and Y chromosome variations as well as for individuals who themselves have an X or Y chromosome variation. This group is intended to provide support and guidance as well as to provide avenues for friendships within the X and Y chromosome community. Over time, I would like to be able to have speakers come to talk about areas of interest to the group as well as provide family events.
Joanne Burke presents the 2019 Massachusetts Proclamation for X & Y Chromosome Variation Awareness Month.
November 12, 2018
Dear Families,
Thank you for joining us this fall for the 4th Massachusetts Area States Trisomy X Support Groupmeeting. It was such a pleasure to welcome and meet some new Trisomy X girls and families. We had 10 girls/women with Trisomy X and families traveling from all different areas of Massachusetts. We started our meeting with round table discussions with Sharron Close, live from eXtraordinarY Clinic Department of Human Genetics and Pediatrics, Emory University School of Medicine. Many families asked questions and participated in the discussions. We then met as a whole group, welcoming and introducing the girls and women with Trisomy X. The older girls/women with Trisomy X met privately with the younger girls to discuss any questions or issues that they may have. It was described as a “nice bonding experience among each other.” We had lots of great food and desserts. I would like to thank everyone for bringing food/drink items to share. I would like to thank Andrea for helping to organize the event and her endless support to our girls/women with Trisomy X. Andrea also leads the Facebook Support group for only girls and women with Trisomy X. I would also like to thank Eileen, Jim, Kayla and Sunshine for helping with organizing the meeting, setting/cleaning up and bringing activities for the children. Lastly I would like to thank my family for assisting with planning the meeting especially my daughter Jessica. I was impressed with Jessica and the women with Trisomy X who came to the meeting on their own, willing to share their stories and answer questions. It is always heart warming to see girls and women with Trisomy X meet others with Trisomy X for the first time! These girls/women are amazing and beautiful in every way! Thank you to AXYS for their continued support and providing us with the latest information and research opportunities.
I am looking forward to our continued meetings. I am open to suggestions for group outings and activities to do together as well. I have attached the contact list so everyone can reach out and communicate with each other. Please feel free to reach out to me anytime and if you learn of new families please along their contact information.
Thanks again to each and everyone for coming and sharing your wonderful stories and support.
Our Best to All,
Joanne Burke and Jessica (Trisomy X age 19)
This is a Facebook group exclusively for women and young adults with Trisomy X. Expect to be messaged by the administrator before your request to join the group is accepted.
If you are a member of the AXYS Trisomy X/Triple X/XXX Global Support Group, email Michelle Buckley at m.buckley40@hotmail.com for additional information.
The group is being organized by a parent of a child with Trisomy X.
This is an informal group. Please bring your daughters with you. All children welcome.
We are a group of Parents & Caregivers of boys/men with 48XXYY Syndrome.
If you request to be a member, you MUST be a PARENT or PRIMARY caregiver to an XXYY boy or man to be approved. You will receive 3 questions when you request membership that must be answered before being approved. If you need help with translating to another language, please contact an administrator of this group. Thank you!
This group was developed for people who are associated with 48,XXXY Syndrome (aka 483xy). We would love to hear anything you have to share about this rare diagnosis!
Start an AXYS Group
Don’t see a group near your home? We will help you organize a group. You can get together one time or hold regular meetings.
Groups are started by committed volunteers. If you are interested in organizing a group, please send an email to info@genetic.org.
Reasons to consider forming a local group:
Create a network of people concerned about X and Y variations
Bring together the collective wisdom of people who have experienced similar challenges
Create a group that can make a difference in your community
Offer the lived experience perspective to legislators, the local medical community and educators
Some of the ways that AXYS will assist your local group include
Set up registration for the meeting(s) and collect donations to support the event(s).
Publicize meetings on the AXYS website, via blast emails, in our newsletter and on AXYS Facebook pages
Use of AXYS webinar software to hold virtual meetings or feature a remote speaker
Referrals to your group via AXYS’s Helpline and ACRC Clinics.
Many groups have found that a meetings with a speaker and group discussion, and social events such as picnics or meetings at restaurants work best to build a strong network. Current group leaders are happy to mentor new volunteers.
We look forward to hearing from you and having you fostering connections in your local AXYS community.
This chart contains all of the videos that are found on the AXYS YouTube Channel. This chart makes it easy to search for what you want to watch. To use the search this table box: type in the speaker, topic or condition for which you want to see videos.
Video
Speaker(s)
Relevant Variation
Initial Data from the GALAXY Registry: Generating Advancements in Longitudinal Analysis in X & Y Chromosome Variations
Susan Howell, MS, MBA, CGC and Kayla Molison, BA
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Discovery & Exploration (discovering skills and employment opportunities)
Tricia Zeltwanger, CESP
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
An Interview with Josh Griffin: His Experience with 47,XXY
Josh Griffin
XXY
Updates on the eXtraordinarY Babies Study (2023)
Nicole Tartaglia, MD and Susan Howell, CGC
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Research Partnership: The GALAXY Registry
Shanlee Davis, MD, PhD and Alexa Carl, MPH
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Gender identity, gender questioning, and gender dysphoria in KS/XXY
Claire Harkin and Prof. James Elander
XXY
First Giggles to First Words ( Language Skills )
Michele Martinez-Chadrom, MA, CCC-SLP
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Temperament in Infants with X&Y Chromosome Trisomies
Megan Louderman, PsyD
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Supplemental Needs: A Novel About X/Y Variations
Ginnie Cover, MSW, MBA
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Government Benefits (SSI, SSDI, SNAP, Medicaid, and more)
Ginnie Cover, MSW, MBA
XXY, XYY, XXYY, Trisomy X, XXXY, Other Variations
Gender Identity in Klinefelter Syndrome
Tet Yap
XXY
Understanding the Phenotypic Spectrum and Family Experiences of XYY
Rachel Gore, ScM, CGC and Colleen Jodarski, MGC, CGC
XYY
Trisomy X: A Review and Care Update for Families and Health Care Providers
Kristen Wigby, MD
Trisomy X
Social and emotional function in boys and teens with KS
Allan Reiss, MD, Lara Foland-Ross, PhD, and Andrea Joan Funtila, BS
XXY
Brain structure and function in boys and teens with Klinefelter syndrome
Conference and webinar presenters share their professional and personal opinions and experiences. These opinions and experiences are the presenters’ own and do not necessarily represent the AXYS organization.
AXYS wants you to stay connected to news regarding research, treatment, education and therapy for X and Y variations. We also want to alert you to upcoming support group meetings in your area, and to send you a periodic online newsletter. Please use the following link to provide us with your name and email address. The form will ask you which variations you want to hear about and your, or your child’s, year of birth. This will help us let you know about opportunities to participate in research that specify an age range. Please also provide us with your postal address so we can send you an informational brochure specific to the condition of concern to you, and which you can share with others. Once or twice a year we may also send you a fundraising letter because, after all, that’s how nonprofit organizations like AXYS survive and prosper!
By the way, you can be certain that your information is secure with us and we will never share it without your specific approval.
Please do not use an email address from Hotmail, MSN, or Outlook. These services tend to block email from many organizations including AXYS. UPDATE (12/11/23): We are also experiencing problems with sbcglobal.net and bellsouth.net email addresses.
Thank you for sharing this helpful information! Please consider a donation, of any amount, so that we can ensure that the X and Y variation community receives the latest and most accurate information available.
“AXYS serves individuals who have one of the most prevalent and yet confoundingly unknown genetic conditions, sex chromosome aneuploidy. The most common of these conditions is 47,XXY, also known as Klinefelter Syndrome. There are many other aneuploidies, affecting 1 in 500 males and females in total. Life is certainly worth living for these individuals. Early diagnosis leads to effective interventions that vastly improve lives, yet the majority of individuals with these conditions go undiagnosed for years—even a lifetime. Misdiagnosis and resulting mistreatment are common and lead to unwarranted suffering. One man spent 52 years diagnosed with bipolar disorder only to discover by accident he is 47,XXY. He was transformed from suicidal to exuberant when he received the right treatments. Undiagnosed individuals are susceptible to myriad comorbid conditions, such as heart disease and cancers, which can strike by surprise. Those with an accurate diagnosis can watch for and address these problems before they become life-threatening. AXYS strongly urges rapid development and deployment of early diagnostic testing to detect these conditions. In the case of X and Y chromosome variations, ignorance most definitely is NOT bliss.”
Please support our effort by submitting your letter to the Wall Street Journal at these two email addresses:
Stuart S. Howards, MD will serve as the AXYS treasurer. He is a professor emeritus at the University of Virginia Medical School and an active professor of Urology at Wake Forest School of Medicine. Dr. Howards has vast experience having served as a board member of the American Board of Urology and was their CEO for 15 years. He served as the treasurer for the American Society of Reproductive Medicine for 15 years. “I’m happy to serve as the AXYS treasurer, says Dr. Howards, “I want to assure our financial health and grow our funds so we can serve the X and Y community.”
Andrea Millett has a degree in psychology and has worked as a retail manager and preschool teacher. Andrea says “I have been involved in the AXYS community for about 10 years, watching it grow has been incredible. From being part of the ambassador team, to gaining knowledge from doctors and peers from the PCORI scientific conference, we’ve brought together similar minded people who continue to thrive for change. I want to assist in creating and achieving new goals for our future.”
Bill Mulkern is the current leader of the New England XXYs Support Group (NEXXYS), and a soon-to-be-retiree from the retirement plan law and administration field. Bill says “I want to take this opportunity to again thank Stefan Schwarz, who was generous and gracious in his support of me when I was diagnosed in early 2000. A few months after diagnosis, I attended my first meeting of the New England group he had founded, and it was then that I volunteered to become co-chair when he announced that he was leaving. And here I still am, 19 years later.”
This chart contains all of the videos that are found on the AXYS YouTube Channel. This chart makes it easy to search for what you want to watch. To use the search this table box: type in the speaker, topic or condition for which you want to see videos.