Resources

/Resources

Support Groups

support-groupAXYS has a number of affiliated support groups. Support 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 and 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 are affiliated with AXYS Clinic and Research Consortium hospitals, and they meet in those facilities. Other groups meet in libraries, medical centers, or churches.

National Support Groups

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 IE’s and Regional Center advocacy, provide support groups for all ages, hold an annual picnic, and support research through fundraising activities.

Jacob Flores, Educational Workshops and Outreach

Contact:

Lorena Quiroga
818/640-5393
lorena.quiroga3@gmail.com

November 5, 2016

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Third Massachusetts Area States Trisomy X Support Group Meeting

“Taking it to the MaXXX”

What a wonderful time we had sharing each other’s stories, reconnecting and meeting new families! Here is a recap of events that occurred:

  • Nineteen families expressed interest in comingmass-trisomy-x-meeting-2016-1
  • Eleven families attended our meeting, traveling from all over MA, NH, and NY
  • Seven girls with Trisomy X ranging from 8 years old to 28 years old
  • Three girls with Trisomy X had never met another girl with the condition!
  • Sharron Close, a pediatric nurse practitioner and scientist at Emory University, and her students, Cathy and Janette, have a special clinical and research interest in X & Y variations. They were able to call in to the meeting and help answer questions and gather ideas from families regarding future research areas.

The highlight of the meeting was seeing the girls with Trisomy X meet their peers for the first time. It was very heartwarming to see. It is this very reason I enjoy so much bringing these amazing girls and their families together.

I want to thank all the families who brought food items to share. A huge thank-you to Andrea Wilczynski for her hard work developing and maintaining the Facebook site for our girls with Trisomy X. I’m so glad Andrea won the free raffle which was Virginia Isaacs (Ginnie) Cover’s book Living with Klinefelter Syndrome, Trisomy X and 47,XYY. Special thanks to Andrea W, Brian, Eileen Curran, Jim Zuis and Kayla, who supplied crafts and kids games. Many thanks to Kim Smith-Daly and Erin Frith for maintaining the Facebook site for Trisomy X and all members involved in AXYS for all the support and education they provide our families.

A very special thank-you to my daughter Jessica Burke for reaching out to all the new girls/ladies with Trisomy X in our support group. Jessica, you are truly amazing!

Thank you all […]

Categories: Resources|

Clinics

ACRC_Logo
In 2015, the AXYS Board of Directors voted to approve funds to help develop the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to help organize, fund and build out a clinic consortium that will operate as independent clinics committed to collaborating with one another, sharing informational resources, and exploring opportunities 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 and Y variation community.

The goal of AXYS is to ensure that all families impacted by any of the chromosome variations have access to the best available evaluation, treatment or treatment recommendations. The AXYS Clinic & Research Consortium is an important means of achieving that goal.

For help in determining which clinic might be most appropriate for you or your family, please read the following and/or call us at 1-888-999-9428.

Types of Clinics

Due to the many X and Y chromosome variations, not all clinics offer services for all conditions. Below is a listing of ACRC clinics. The specific conditions and patient ages served by the clinic are noted in the description.

Multidisciplinary Clinics

Some clinics are multidisciplinary in their services. A multidisciplinary clinic provides a comprehensive, integrated approach to caring for individuals. Patient visits are organized to provide access to all necessary medical, psychological, and therapy disciplines in one visit. Professionals then meet, discuss each case, then collaborate to develop a fully coordinated care plan tailored to the patient. Some clinics also provide “take-home” materials for local medical, therapy and school professionals. Please review each clinic’s website and/or description of its services for information regarding its specific approach to seeing patients. If you’re unsure about the types of services provided, be sure to ask at the time you schedule your appointment.

Los Angeles, CA (Southern)
Cedars Sinai Hospital: eXemplarY Kids Clinic
X and Y variations seen: All
Ages seen: Birth to 21
Medical Director: Co-Directors: Yana J. Tavyev MD and B. Michelle Schweiger, DO, MPH
Ludmila Zaytsev, Ph.D., Pediatric Neuropsychologist
Appointments/Clinic Coordinator: Margaret Au, MBE, MS, CGC Margaret.Au@cshs.org
310 423-7779 (appointments) / 310-423-9935 (clinic coordinator) / 310 423-7940 (office)
Hospital website

Stanford, CA (Northern)
Stanford University School of Medicine
X and Y variations seen: All
Ages seen: Children and Young Adults
Medical Director: David Hong, MD
Appointments: Clinic Coordinator: Reiko Riley reikor@stanford.edu
Hospital website

Denver, CO
Children’s Hospital Colorado: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Birth to young adulthood
Medical Director: Nicole Tartaglia, MD
Clinic Coordinator: Susan Howell, MS, MBA, CGC
Appointments: 720-777-8361 or extraordinarykidsclinic@childrenscolorado.org
Clinic website

Wilmington, DE
Nemours Alfred I. duPont Hospital for Children: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Judith Ross, MD
Appointments/Clinic Coordinator: Karen Kowal: 215-955-9008, kkowal@nemours.org
Clinic website   Clinic brochure

Atlanta, GA
Emory University: The eXtraordinarY Clinic at Emory
X […]

Categories: Resources|

Research and Clinical Trials

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Toward Better Diagnosis and Treatments

Research is the lifeblood of all medical conditions that stand to be improved as we learn more about them. No serious advance can be made against diseases without carefully constructed scientific research. Research helps raise awareness, inspire hope, and lead to early diagnosis and effective treatments.

Many studies on X and Y variations take place simultaneously at research centers around the world. If you want to know more about individual studies, scroll down the page and click on the website or email links directing you, or simply follow the instructions listed for each study.

If you are new to these conditions and the nature of clinical trials, click here for more information.

Post New Trials

If you are the Principal Investigator or other responsible person for a study that you believe may be applicable to one or more of the X and Y variations that AXYS serves, we would be happy to post information concerning your research on our website.

Click here for more information.

Specific Research Announcements

For a regularly updated list of specific research recruiting announcements that are open and actively recruiting families, please click here.

Categories: Resources|

Prior Conferences

Every two years, AXYS sponsors a conference that brings together those with an extra X or Y chromosome variation, their parents or other family members, researchers, medical professionals and others. The conference features individual presentations, panel discussions, and plentiful opportunity for informal discussion and support on a wide range of matters relevant to our members and friends. Much of the material is of a timeless nature that can be highly informative and helpful to those new to the field.


2017 AXYS Family Conference, Aurora, Colorado

2015 AXYS Family Conference, Baltimore, Maryland


Powerpoint Presentations From the 2013 Conference

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PRESENTER

SESSION TOPIC
Sharron Close, PhD Family Management Style and Diagnosis Disclosure in Klinefelter Syndrome: Preliminary Findings
Sharron Close, PhD Columbia University & Yale University – Research Update (Panel)
Sharron Close, PhD When Others Don’t Get It
Jackie Frazier, MA, SLP-CCC Speech-Language Intervention: Goals and Expectations, Early intervention through High School
Sydney Martin, MS OTR Occupational Therapy Treatment Across the age span
Phyllis Quatman; Gary Glissman Legal and Law Enforcement Issues
Rebecca Wilson, PsyD, Erin Gorman Bozorgpour, PhD, Jamie Blume, PsyD Behavioral Considerations for XY Chromosome Differences
Christa Hutaff-Lee, PhD Supporting the Development of Planning and Org Skills
R. Maria R. Ochoa, LCSW Strategic Planning & Resources for Crisis Prevention and Intervention
Pravin Rao, MD  XXY and Fertility – and introduction to Johns Hopkins Klinefelter Syndrome Center
Ram Raj Singh, MD X/Y chromosome variations & Immune System Health
Ram Raj Singh, MD UCLA Research Update (Panel)
Phillip S Zeitler, M.D. PhD A Brief overview of endocrine issues in Klinefelter syndrome
Phillip S Zeitler, M.D. PhD Endocrine Issues Related to X and Y Chromosome Variations
Jeannie Visootsak, MD, FAAP Streams of Development and Behavior in XXY
Jeannie Visootsak, MD, FAAP Health and Development in XYY Syndrome
Categories: Resources|

Library

Categories: Resources|