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.”
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.”
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.)
Article Title: The Expert in the Room: Parental Advocacy for Children with Sex Chromosome Aneuploidies
Authors: Richardson, Riggan, and Allyse
Date of Publication: November 2, 2020
“Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs.”
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.”
After thought and discussion, and with direct input from the participants on the Families of Color call, AXYS has the following goals:
To support people of color in receiving equitable healthcare, education, and social support
To integrate information on the impact of systemic racism in the healthcare system into our CME courses
To better connect people with similar ethnic and cultural backgrounds for support within our community
To increase accessibility to research opportunities for people and families of color
To increase diversity of location for future in-person meetings
To achieve these goals, we will be taking the following steps:
Shifting the focus of our next ACRC meetings to discuss how each of our clinics can support equity
Modifying our “Stay Connected” form to include requests for demographic information including race and gender expression
Encouraging researchers to report information based on race so that families can take more specific information to their medical providers
Going through our professional directory to identify providers of color
Creating research-based additions to our CME courses
Continuing our conversations with people and families of color to reflect on AXYS’s past, present, and future actions
As individuals, as a community, and as a country, there is so much work that needs to be done to bridge the gap between the ideals of our society, and the realities for people of color. Another statement during the phone call that resonated with me was: “I have the power to make things happen.” I know I can count on the AXYS community to not only know that we can do better, but to take action.
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. His main role on the board will use his expertise on finance and compliance. “I looking forward to utilizing my professional experience to give back to the community,” said Justin.
“As a School of Nursing doctoral student, Amy Blumling provides much-needed care to a special patient population at Emory Healthcare. Twice monthly, she and other providers see patients at the eXtraordinarY Clinic, the Southeast’s only clinic for children with sex chromosome disorders.”
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.