All Variations Archives - The Association for X and Y Chromosome Variations

Tina Hanif’s Story

When I got the in utero diagnosis of my son’s XXY in 1995, I had feelings of despair, confusion, frustration, and sadness. My husband and I went to the public library in Manhattan to explore KS information, per the geneticist’s recommendation. We were traumatized by the photographs and misinformation.

Dr. Adler, my OB/GYN was very consoling and empathetic. He gave me Melissa Aylstock’s information and told me she was fighting for her son and other KS kids through KS & Associates, the organization she founded.

Melissa was sweet, kind, concerned and very responsive to my plea for help! Back then it was ‘long distance’ phone calls to California from NJ. We were on the phone for hours. Melissa sent me an overnight package with photographs of her son, whom she had self-diagnosed, along with photos of other KS guys. They looked NOTHING even close to the pictures we had seen at the library. In fact, they were handsome guys with no physical signs of anything unusual.

I had the good fortune of meeting Melissa and her son at the 1995 KS&A conference. A couple dozen people attended that event. I witnessed the growth of AXYS, (KS&A was renamed AXYS in 2014) when I attended the 2019 conference with nearly 400 participants: medical professionals, parents, and individuals with X and Y variations, who traveled from all over the US, South America and even Europe to attend. Attending the conference was not only nostalgic for me as I reflected back on 1995, but also a sign of hope that awareness, support and education are on the rise.

I raised my son alone, well, along with a few good nannies and sitters. My son is a smart, handsome, caring, kind, person with drive and passion. As my son struggles with KS related neurocognitive issues, I continue to look for answers while guiding him along the way to independence.

My involvement with AXYS is driven by not only my need to help others, but a moral obligation to do like Melissa did: sincerely give back to others, to give hope to parents not sure of the outcome, listen and empathize with families, provide references or referrals when needed and most of all, to help spread awareness, support and education about X and Y variations.

Tina Hanif
Leader of the Florida Support Group

Rick Frith2019-08-29T13:03:36-04:00Categories: 47,XXY (Klinefelter), All Variations|Tags: 30th Anniversary|

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|

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 […]

Rick Frith2019-08-03T12:52:41-04:00Categories: All Variations|Tags: 2019 AXYS Family Conference|

2019 AXYS Family Conference, Atlanta, Georgia

Rick Frith2019-07-19T11:49:21-04:00Tags: 2019 AXYS Family Conference|

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.

Rick Frith2019-08-06T10:59:50-04:00Categories: All Variations|Tags: AXYS News|

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.

Rick Frith2019-03-23T16:58:19-04:00Categories: All Variations|Tags: ACRC, AXYS News|

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.”

Rick Frith2018-11-30T12:58:56-04:00Categories: All Variations|

Neuroses and neuroticism: What’s the difference?

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

Author: Adam Felman

Date of Publication: January 9, 2018

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

Rick Frith2018-11-30T12:48:27-04:00Categories: All Variations|

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