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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 |

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Executive Director Carol Meerschaert Celebrates 5th Anniversary at AXYS

I am excited to have celebrated my 5th anniversary as the Executive Director of AXYS on October 8th, marking five years of incredible accomplishments for our organization. I am extremely proud of what we have achieved together during this time, and want to take a moment to highlight some of our key milestones:

Financial: I meticulously examined every expense, forged relationships with cost effective vendors, chose less expensive yet feature rich software platforms, and improved our practices, resulting in annual savings of $25,000 for AXYS.

    • I revamped our financial practices, adding checks and balances to assure accurate accounting. We switched banks allowing us to earn interest on our cash reserves and receive cashback benefits on our credit card.
    • A fund was created that, with continued dedication and hard work, will eventually serve as an endowment, ensuring financial stability for AXYS during challenging times.
    • Since the beginning of the century, AXYS ended the year net negative 10 times. AXYS has not seen a single year with negative net revenue during my tenure.

Expanded Outreach: We expanded our reach by adding dedicated website sections for Mosaic and XXXY variations. Additionally, we welcomed our first board member representing the XXXY community and offered support groups for Mosaic and XXXY during the 2023 virtual conference.

Diversity and Inclusivity: We prioritized board member diversity, now including BIPOC and LGBTQ+ board members, as well as 3 adults with an X or Y variation. We have also introduced support groups and conference sessions for these diverse groups, along with valuable research on gender, sexuality, and other critical topics.

Adaptability: We successfully navigated the challenges posed by the pandemic by pivoting from in-person to virtual programming, ensuring our services continued to reach those who need them. We created innovative chats, a Family Game Night, a week-long AXYS Summer Camp and a virtual conference.

ACRC Expansion: The AXYS Clinical and Research Consortium (ACRC) doubled from 9 clinics when I started to 18 today; half of these clinics serve adults.

We added the clinical researchers to our consortium. They do not see patients as a typical clinic would—they dedicate their professional lives to helping us understand more about X and Y variations.

GALAXY Registry: AXYS supports the GALAXY Registry, a project that has long been on the wish list. AXYS offers both financial support and oversight as AXYS community members serve on the steering committee.

Stewardship and Development: Recognizing the need to secure substantial gifts, I initiated a focused effort on stewardship and development. This effort bore fruit in July, when AXYS received two major gifts, making it a record-breaking month for us.

Cost-Efficient Website Revamp: We revamped our website at zero additional cost, a remarkable achievement considering the $10,000 price tag of our last redesign. Thanks to all of the community members from every variation who contributed their input on dozens of Zoom calls, surveys, and messages, assuring the website content is up-to-date and meets the needs of each part of our community.

Kudos to Richard Frith for all of the work he did on the update, while still serving as communications manager, tech lead and all-around support for AXYS. Rick is amazing!

I extend my heartfelt appreciation to our dedicated board members, support group leaders, Helpline volunteers, and everyone who selflessly contributes to support the AXYS community. I eagerly anticipate the journey ahead, and with your unwavering support, we will continue to make strides toward our mission.

Our work remains unfinished until every individual with an extra X or Y chromosome is aware of their condition, every medical professional comprehends X and Y variations and the unique care needs, every teacher provides the best education our community deserves, and no one faces discrimination or negativity because of their X or Y variation.

Thank you for being part of this remarkable journey, and here’s to many more years of progress and success.

What’s missing in sex chromosome aneuploidies? Representation and inclusion

Article Title: What’s missing in sex chromosome aneuploidies? Representation and inclusion

Authors: Mehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer

Date of Publication: January 2022

“Given that KS/TS happen by chance, theoretically, these rates should be similar across racial/ethnic groups. Namely, the rates of KS/TS should be similar among non-Hispanic Whites and Black, Indigenous, People of Color (BIPOC) communities. Currently, it is unknown to what extent HR-QoL has been examined in BIPOC communities affected by KS/TS. To provide culturally-informed care for all patients with KS/TS, it is critical to understand the experiences of BIPOC communities. We conducted a systematic review of the literature on HR-QoL in KS/TS to examine the extent that BIPOC communities have been included and represented in the literature to date.”

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Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Article Title: Recommendations to improve the patient experience and avoid bias when prenatal screening/testing

Authors: Meredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers

Date of Publication: October 29, 2022

“While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.”

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Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

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Supporting students with sex chromosome aneuploidies in educational settings

Article Title: Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Authors: Thompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia

Date of Publication: August 2022

“Many parents reported their children’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.”

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‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with SCAs

Article Title: ‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies

Authors: Thompson, Stinnett, Tartaglia, Davis, and Janusz

Date of Publication: March 13, 2022

“Students with SCAs, have a unique educational profile that may be challenging to support within the schools. Challenges with reading and writing, EF, fatigue/endurance, social skills and emotion management may act as barriers to learning, and are frequently triggered in busy classroom environments. Skills hovering in the borderline range are common to the SCA phenotype and are not often well served by special education systems with limited resources and strict cut-offs for qualification. As a result, families may feel they need to advocate strongly for their child to receive adequate support services. To improve the educational experience of children with SCAs, we recommend increased collaboration between the school and the child’s medical team, strong parent partnerships and acknowledgement of the significant role the genetic condition plays in the educational experiences of students with SCAs.”

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The Need for Greater Awareness of Sex Chromosome Variations

Article Title: The Need for Greater Awareness of Sex Chromosome Variations

Author: Erin Torres, MSN, PMHNP-BC, RN-BC

Date of Publication: September 2021

From the article’s abstract: “Health care providers remain ill prepared to recognize these conditions and support patients and their families.”

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What microRNAs could tell us about the human X chromosome

Article Title: What microRNAs could tell us about the human X chromosome

Authors: Di Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza

Date of Publication: April 30, 2020

“MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed the highest density of miRNA sequences on the X chromosome; this evolutionary conserved mammalian feature equips females with a larger miRNA machinery than males. However, miRNAs contribution to some X-related conditions, properties or functions is still poorly explored. With the aim to support and focus research in the field, this review analyzes the literature and databases about X-linked miRNAs, trying to understand how miRNAs could contribute to emerging gender-biased functions and pathological mechanisms, such as immunity and cancer. A fine map of miRNA sequences on the X chromosome is reported, and their known functions are discussed; in addition, bioinformatics functional analyses of the whole X-linked miRNA targetome (predicted and validated) were performed. The emerging scenario points to different gaps in the knowledge that should be filled with future experimental investigations, also in terms of possible implications and pathological perspectives for X chromosome aneuploidy syndromes, such as Turner and Klinefelter syndromes.”

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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.)

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