Dear AXYS Community Member,
There is no need for me to say that this has been a year unlike any we’ve ever seen. It has been a difficult time in many ways. To those of you who have lost a loved one, may I express my deepest condolences for your loss. I also want to offer my sympathies to those who have lost a job, business, or home. To those who feel especially isolated with social distancing and other restrictions due to COVID 19: know that AXYS is here for you.
During these times where everything can feel demanding, I often reflect on the time I spend working with AXYS. As you probably know, AXYS has only 2 paid employees – the rest of our accomplishments come from the great support of volunteers, and the generous donations we receive.
I became involved with AXYS two years after my daughter, who has Trisomy X, was born. In the seven years since I was asked to “just help moderate the Facebook group,” I’ve served on the board, spoken with countless families, attended and presented at conferences, and am now the Chair. My work with AXYS is important to me – not just because my daughter has a chromosomal variation, but because the people AXYS supports are like a family to me. Especially in times like now, the sense of community and camaraderie is reassuring.
Despite the disappointment of not meeting and working with so many of you face to face, work at AXYS has continued. Just as we’ve all done, AXYS focused on what was still possible this year.
- We moved support groups and our ACRC meetings to Zoom calls. This allowed greater participation in the ACRC as even the most senior clinicians and researchers were able to join us for the meetings.
- We’ve been able to host support groups by region as well as by condition. It is great to see those with less common X&Y variations be able to get together and spend time with one another.
- We combated the boredom and isolation of sheltering in place with AXYS Summer Camp which featured a week of Zoom activities from cartooning to sign language, and AXYS Family Game Night where we played games and won prizes while building our community.
- AXYS added new board members so that individuals and families with XXY, XYY, XXYY, and Trisomy X are represented on the board. We added depth in expertise by adding a social worker, nurse practitioner, lawyer and two people who work in pharma/biotech to our amazing board that already included a doctor, genetic counselor, teacher, and a nurse.
- We created a Families of Color group to begin the work of making sure that everyone with an X and/or Y variation has a voice in our community.
- Collaborating with specialists at Wake Forest Medical School, we created our first CME (Continuing Medical Education) course: Klinefelter Syndrome: Identifying, characterizing and managing an underdiagnosed condition with serious consequences. This course was developed with generous grant support, however we will need funds to pay the admin fees to Wake Forest so that we can offer the course at no charge to physicians with the goal of educating as many as possible. Dr. Sadri’s colleague will translate the course into Spanish for even greater reach.
- The ACRC (AXYS Clinical and Research Consortium) is growing. We expanded our scope to include clinical research groups such as the NIH. We’ve added internationally renowned doctors including Dr. Claus Gravholt in Denmark, and Dr. Ryan Flannigan of the Flannigan Fertility Clinic in Vancouver, Canada.
- Nicole Tartaglia of the eXtraordinarY Kids Clinic was the editor of a special issue of the Journal of Medical Genetics devoted to X&Y variations. The authors of the articles will share their papers with our community via a series of webinars that will continue in 2021. We hope to share more scientific research articles by hosting webinars so that we can ask the authors our questions directly.
I feel that this year was transformative for AXYS as we grow and expand our ability to support those with X&Y variations. As we move into 2021, AXYS is coordinating our first virtual conference. We hope that this format allows more accessibility for those whose situations don’t typically allow them to come in person. We’ll continue to expand the ACRC. We will be creating new CME courses to educate medical professionals in many fields and educate them about all X&Y variations. We are continuing to create content to deliver educational webinars. We will continue providing support groups, and hope to host more social activities. We cannot do this without your help.
We thank you for your ongoing support that allows us to live our mission to help individuals with one or more extra X and/or Y chromosomes and their families to lead fuller, more productive lives.
Please consider donating to support AXYS as we continue our work.
With gratitude,
Erin Frith
AXYS Board Chair