About the ACRC Clinics
Since 2015, the scientists and researchers of the AXYS Clinic and Research Consortium (ACRC) collaborate, share information, 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 X & Y variation community.
Types of Clinics
Due to the many X & Y Chromosome variations, not all clinics specialize in 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 use a multidisciplinary approach, offering medical, psychological, and therapy services in one visit. Providers collaborate to create coordinated care plans and may offer take-home materials for local professionals. Check each clinic’s website or ask when scheduling to understand its specific services.
Note: Anyone planning to visit an ACRC clinic should check with the specific clinic and their insurance provider to see if they have coverage
California
Los Angeles
Cedars Sinai Hospital: eXemplarY Kids Clinic
X and Y variations seen: All
Ages seen: Birth to age 21
Medical Director: Co-Directors: Yana J. Tavyev MD and B. Michelle Schweiger, DO, MPH
Appointments/Clinic Coordinator: Katie Grand, MS, LCGC, 310-423-9935
Hospital website
Sacramento
MIND Institute, UC Davis: XY Chromosomal Variation Clinic
X and Y variations seen: All X and Y Chromosomal Variations
Ages seen: Adults and children
Adult and Pediatric Clinic Medical Director: Daniah Beleford, MD, PhD, FACMG
Active Clinical X/Y Variation Researcher: Daniah Beleford, MD, PhD, FACMG
Clinic Coordinator/Questions: Samantha Runa, MS, CGC, Clinical Genetics, sruna@health.ucdavis.edu, 916-703-3032
Referral and Appointments: : 916-703-0300 (Option #4) | Fax: 916-703-0350
Clinic Website
Stanford
Stanford University School of Medicine
X and Y variations seen: All
Ages seen: Children and Young Adults
Medical Co-directors: David Hong, MD and Allan Reiss, MD
Appointments/Clinic Coordinator: Lucia Gutierrez, lgutierrez@stanford.edu, 650-498-4538
Hospital website
Colorado
Denver
Children’s Hospital Colorado: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Prenatal 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
Delaware
Wilmington
Nemours Children’s Hospital, Delaware: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Judith Ross, MD
Co-Director: Chijoke Ikomi, MD
Appointments/Clinic Coordinator: eXtraordinarYkidsclinic@nemours.org, 302-298-8392
Clinic website
Denmark
Aarhus University Hospital
Address: Department of Endocrinology Aarhus University Hospital
X and Y variations seen: All
Ages seen: Children and Adults
Medical Director: Else Vestbo
Contact: Dr. Anne Kirstine Stochholm Krag, annkra@rm.dk
Additional clinicians and researchers:
- Dr. Marie Juul Ornstrup
- Dr. Claus Gravholt
Phone: 0045 78455470
Clinic website
Georgia
Atlanta
Emory University: The eXtraordinarY Clinic at Emory
X and Y variations seen: All
Ages seen: Birth to 18 years
Medical Director: Amy L. Talboy, MD
Clinic Coordinator/Appointments: Emalyn Cork, emalyn.cork@emoryhealthcare.org, 404-778-8570
Referrals should be faxed to 404-778-8562 attention: Amy Talboy, MD/The eXtraordinarY Clinic
Website
Illinois
Chicago
Rush University Medical Center
X and Y variations seen: All
Ages seen: Birth to young adulthood
Medical Director: Elizabeth Berry-Kravis, MD, PhD
Clinic Coordinator: Angel Wang and Milica Milic
Appointments: 312-942-3034 or 312-563-4937
Chicago
Ann & Robert H. Lurie Children’s Hospital of Chicago
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Courtney Finlayson, MD
Appointments: Danielle Lee, MSW, Program coordinator, 312-227-6203
Website
Maryland
Baltimore
Johns Hopkins: 47,XXY Klinefelter Syndrome Center
X and Y variations seen: Klinefelter syndrome; male infertility.
Ages seen: Children and adults
Medical Director: Adrian Dobs, MD
Appointments: Hopkins USA Concierge Service, 855-695-4872 (Monday-Friday, 8am – 6pm ET)
Clinic website
Massachusetts
Boston
MassGeneral Hospital Klinefelter Syndrome Clinic
X and Y variations seen: Klinefelter syndrome (47,XXY), 47,XYY, 48,XXYY, 48,XXXY, and other male X and Y chromosome variations
Ages seen: Prenatal through adulthood
Medical Director: Frances High, MD, PhD and Frances Hayes, MBBCh, BAO
Appointments/Clinic Coordinator: Natalie Nguyen, nnguyen47@mgh.harvard.edu, 617-726-5521
For MGH Trisomy X care, call Medical Genetics at 617-726-1561
Clinic website
Read more about this clinic in this AXYS Clinic Spotlight Article
The Netherlands
Leiden
TRIXY Centre of Expertise, Leiden University
X and Y variations seen: XXY, Trisomy X, XYY, XXYY, XXXY
Ages seen: 0-18 years, adults
Medical Director: Prof.dr. Hanna Swaab
Chief Scientific Officer: Sophie van Rijn, PhD
Clinic Coordinator: Kimberly Winkel-Kuiper, PhD
Appointments: TRIXY, part of Leids Universitair Behandel en Expertise Centrum (LUBEC) lubec@lubec.nl | +31-71 527 40 63
Clinic Website
New York
New York City
Weill Cornell Medicine X and Y Chromosome Variations Program/Klinefelter Syndrome Care Center
X and Y variations seen: All
Ages seen: Prenatal through adulthood
Director: Lilian Cohen, MD MPH
Clinic Coordinator: Lilian Cohen, MD MPH
Clinic website | 646-962-2205
North Carolina
Winston-Salem
Advocate Health, Wake Forest University Health, Department of Urology and Carolinas Fertility Institute (CFI)
X and Y variations seen: All
Ages seen: Prenatal, children, and adults
Medical Director: Hooman Sadri, MD, PhD
Clinic Coordinator: Wake Forest Urology: Ashley N Alley, Ashley.Talley@Advocatehealth.org | CFI: Alexis Richardson, arichardson@cfi.clinic
Appointments: Wake Forest Urology: 336-716-4131 | CFI: 336-448-9100
More information by email: hsadri@wakehealth.edu
Clinic website
Additional Information: Dr. Sadri’s profile on the CFI website | Sadri Fertility – X and Y variations seen: 47,XXY, 48, XXYY and other male gonadal dysgenesis (Puberty and fertility preservation management for X and Y variations)
Ohio
Cleveland
eXtraordinarY Kids Care at Cleveland Clinic
X and Y Variations seen: XXY and other X & Y variations
Ages seen: Prenatal to young adulthood
Medical Director: Andrea Mucci, MD
Appointments: 216-444-7987
Clinic website
Pennsylvania
Lewisburg
Geisinger’s Autism and Developmental Medicine Institute (research site only)
Primary contact: Matthew Oetjens, Assistant Professor, mtoetjens@geisinger.edu, 248-376-4438
Website
Philadelphia
Children’s Hospital of Philadelphia: Klinefelter and All XY Variations Program
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Maria Vogiatzi, MD
Clinic Coordinator: Meagan Snow-Bailey, 215-590-3174
Clinical Nurse Coordinator: Maureen Butler, RN, BSN, adrenalpubertycenter@chop.edu, 215-590-3174
Clinic website
Read more about this clinic in this AXYS Clinic Spotlight Article
Philadelphia
Penn Adult Klinefelter Syndrome Program
X and Y variations seen: Klinefelter syndrome (47,XXY)
Ages seen: Above 18 years
Medical Director: Amna N. Khan, MD
Clinic Coordinator: Megan Lee, megan.lee@pennmedicine.upenn.edu, 215-614-0086
United Kingdom
London
The Klinefelter Syndrome Multidisciplinary Clinics, UK
X and Y variations seen: All variations
Ages seen: All ages
Medical Director: Mr. Tet Yap, MD, MA, FRCS, FEBU, tet.yap@nhs.net
Clinic Coordinator/Appointments: theklinefeltersyndromeclinic.com/contact (NHS), Alice Cotton, alice.cotton@nhs.net
Website: theklinefeltersyndromeclinic.com
Single Specialty Clinics
The following clinics primarily focus on a single issue associated with having an X or Y variation and may not necessarily provide the comprehensive evaluation and treatment recommendations provided by the multidisciplinary clinics. If you’re unsure about the types of services provided, be sure to ask at the time you schedule your appointment.
Canada
Vancouver, British Columbia
Flannigan Fertility – Reproductive Medicine
X and Y variations seen: Male Infertility and Sexual Medicine. Genetic disorders leading to male infertility such as Klinefelter Syndrome, mixed gonadal dysgenesis (45X, 46XY), CFTR mutations leading to male infertility. Dr. Flannigan performs sperm retrievals, and fertility management.
Ages seen: Post-pubescent adult population
Medical Director: Ryan Flannigan, MD, FRCSC
Appointments: Sunny Zheng, 604-875-5683
More information by email: clinic@ubcurology.com
Clinic website
Board and Staff
AXYS Board of Directors and staff members are dedicated to the mission of AXYS and to our X and Y variation community. While election to the board is an honor, members also have important legal and fiduciary responsibilities that require a commitment of time, skill and resources. The ideal board member is strongly committed to AXYS’s mission and vision, and has the interest, skills, and resources that will fuel the organization’s growth.
Officers
Chair since 2024, Director since 2024
Your name: Ginnie Cover
Your connection to AXYS: XXY, but have written about all variations
General location: Mid- Atlantic (Washington DC metro area)
How long have you been with AXYS? Since 1995 (originally KS&A)
Brief professional bio: Ginnie worked throughout her career with children and adults with complex medical conditions and developmental disabilities. She holds an MSW from the University of Michigan. After her now adult son was prenatally diagnosed with 47,XXY, in the 1980’s, pre-internet, Ginnie became an advocate for those with X and Y chromosome variations, providing educational programs for families and for professionals who work with this population. In 2012, she published Living with Klinefelter Syndrome, Trisomy X, and 47,XYY, a widely read guidebook to X and Y chromosome variations. During the pandemic, she turned to fiction, completing a novel, Supplemental Needs, about a family coping with a prenatal diagnosis. Ginnie wrote this novel because disability in children is rarely portrayed in fiction, and certainly not where there is a prenatal diagnosis involved. She is a past Board member, and returned to the AXYS Board as Chair in 2024. Ginnie and her husband, who are the parents of two adult sons, live in the Washington, D.C., metro area.
Vice Chair since 2023, Director since 2017
Your name: Gail Decker
Your connection to AXYS: I have a son with XXYY Syndrome
General location: New York
How long have you been with AXYS? I have been a board member since 2017 and part of the XXYY Project since 1998, which joined AXYS in 2015
Brief professional bio: I am retired from banking and management. I am a parent and advocate for individuals with ID/DD here in my local community.
Treasurer since 2025, Director since 2025
Your name: Janine Walker
Your connection to AXYS: 47,XXY
General location: Atlanta, GA
How long have you been with AXYS? I’m new to AXYS.
Brief professional bio: As Treasurer and Board Member of AXYS, I bring my background in finance, nonprofit service, and wellness to support the mission of raising awareness and providing critical resources for individuals and families affected by X and Y chromosome variations. I’m also a passionate advocate for mental health and disability inclusion, and I believe deeply in the power of education, support, and community to create lasting change. I’m honored to serve in this role and help ensure the organization’s impact is both meaningful and sustainable.
Secretary since 2025, Director since 2024
Your name: Jessica Grove
Your connection to AXYS: 47,XXY – my son
General location: Maryland
How long have you been with AXYS? I’ve been on the board since April 2024, but a part of the community for a few years as an observer and receiver of information and resources.
Brief professional bio: Jessica Grove is the Chief Operating Officer for the national mental health organization, Give an Hour. As COO she oversees the day to day operations of the organization including finances, human resources, technology integration, data collection, impact reporting, program management, and more. Jess came to Give an Hour from the professional theater world where she spent many years as a professional Stage Manager and Production Manager at theatres in both North Carolina and Maryland. She considers herself a compassionate and dedicated self-starter. Jess is a graduate of the University of North Carolina at Chapel Hill. She and her husband have three children and are strong advocates for families in need of support for neurodiversity as well as for families built through adoption.
Directors
Director since 2025
Your name: Whitney Barkley-Denney
Your connection to AXYS: Trisomy X
General location: Mid-South
How long have you been with AXYS? Since 2025
Brief professional bio: Whitney Barkley-Denney is a Deputy Director of State Policy and a Senior Policy Counsel at the Center for Responsible Lending, based in Durham, NC. Whitney works with state legislatures, attorneys general, and governors to fight predatory lending, exploitative student loan practices, and unscrupulous debt collectors. Whitney’s lobbying, policy work, and writing focuses particularly on racial disparities in wealth, lending, and the ability to build the American dream.
Whitney and her husband are parents to a son, who is seven, and a daughter, a wonderful three-year-old with Trisomy X. Whitney learned about AXYS when her daughter was diagnosed with 47,XXX through an NIPT, and it quickly became an invaluable resource. Whitney has been involved with the Trisomy X community since 2022 and joined the board in December 2025.
When she’s not working, Whitney and her family love to travel, hike, and care for a menagerie of chickens, dogs, and a diva kitty cat named Barbara Streisand.
Director since 2020
Your name: Dalene Basden
Your connection to AXYS: Mother of 47,XXY guy
General location: Boston, MA (North Shore)
How long have you been with AXYS? Member of AXYS community for 25 years, current board member for about two years
Brief professional bio: Dalene Basden, CPSP is a Family Support Specialist serving Lynn since 1998. In 2012, she became the first Nationally Certified Parent Support Provider in the state of Massachusetts. As an African American parent of two sons, one identified with 47XXY, the other with mental health challenges, she experiences firsthand racial disparities in health care. Dalene’s response to this inequality earned her the Rebeka Lee Award from the Harvard School of Public Health. In 2007, Dalene earned her certification as a SEED (Seeking Educational Equity and Diversity) leader with the Wellesley Centers for Woman. She continues to use her personal experience and expertise as a platform to inform and enlighten others about social injustices. Dalene engages her community, particularly those affected by bias and racism, in conversations of race, culture and intolerance as part of her quest to educate and bring awareness to these issues.
Director since 2026
Your name: Andrea Bleifuss
Your connection to AXYS:Trisomy X Syndrome
General location: Portland, Oregon
How long have you been with AXYS? New to AXYS
Brief professional bio: Andrea has over two decades of experience working with children and adults with disabilities. The focus of her career has been to assist others in increasing independence and improving their overall well-being. Andrea has a strong background and understanding of Medicaid Services for I/DD, Mental Health, Aging & Disability, and is knowledgeable about residential and in-home care services.
In addition to her career experience, Andrea has lived experience with the various struggles that can arise when trying to access appropriate care and support. She is a person with Autism, ADHD, CPTSD, and Trisomy X.
In her free time, Andrea enjoys making art with paint and pencils, playing the piano, and computer games. She loves nature and wildlife. Andrea enjoys caring for her plants and going for walks with her dog. She is active in her local Autism Community and enjoys volunteering.
Andrea believes that through advocacy, education, awareness, and compassion it is possible to make a meaningful difference.
Director since 2025
Your name: Andrew Curry
Your connection to AXYS: 47, XXY (diag. 16 yo)
General location: North Carolina, USA
How long have you been with AXYS? I have been a volunteer and known of AXYS since 2008, board member since 03/2025.
Brief professional bio: Andrew is employed within the Cyber Security sector, with previous experience covering Network technicians, cyber security analysts, fraud engineering, and Digital Forensics. Presently he works as an Incident Response Engineer. Otherwise he enjoys volunteering when he can, and can typically be found exploring, hiking, cooking or gardening, and generally never sitting still unless absolutely necessary.
Director since 2025
Your name: Kirsten Dougherty
Your connection to AXYS: XXYY
General location: Iowa
How long have you been with AXYS? 19 years with the XXYY Community and 10 years with the AXYS Community
Brief professional bio: Kirsten is a licensed pharmacist in the states of Iowa, Missouri, and Maryland. She is the Director of Pharmacy at Mahaska Health in Oskaloosa, Iowa. Working in many areas of pharmacy throughout her career, Kirsten found her passion in rural healthcare. She has held several leadership positions in pharmacy throughout the past 25 years. Kirsten and her husband, Sean, have 3 boys – Patrick (age 19 – XXYY), Scott (age 17), and Daniel (age 16). When their first child was born and diagnosed with XXYY at 2 weeks of age, Kirsten and Sean reached out to The XXYY Project for support. They have been an active member of the XXYY Community ever since. Kirsten’s “Why” behind becoming a board member is to give back to the communities that she has been a part of for the last 19 years. She truly believes that we are each other’s lifelines when it comes to raising children with X and Y chromosome variations.
Director since 2024
Your name: Erynn Gordon
Your connection to AXYS: XYY
General location: New Jersey
How long have you been with AXYS? I’ve been a member of the AXYS community since 2021 and joined the board in 2024.
Brief professional bio: Erynn began working with the board in 2024. Her son was diagnosed with 47, XYY when he was 10 years old. Erynn is a genetic counselor by training and has been working in the genetics industry for the past 24 years. Erynn is passionate about patient advocacy and recognizes the challenges that parents face in first finding a diagnosis and then accessing information and is motivated to help AXYS support families. Erynn lives with her husband and two sons in New Jersey.
Director since 2025
Your name: Tina Hanif
Your connection to AXYS: Mom to a child affected by a chromosomal variant
General location: Southeast US
How long have you been with AXYS? 20+ years
Brief professional bio: Tina brings a strong professional background in the financial field, where she has spent many years helping individuals and organizations manage resources with clarity and purpose. Her strategic mindset and practical experience contribute to her thoughtful leadership and dedication to sustainable growth within AXYS. As a mother of a child with a chromosomal variation, Tina has been on this journey for over 20 years. Her personal experience has shaped a deep passion for advocacy and connection, driving her to ensure that no family feels isolated when facing an X or Y chromosomal anomaly. Seven years ago, Tina founded and continues to lead a support group in Florida for adults affected by X and Y variation, parents and caregivers, creating a safe, welcoming space for families to share their stories, ask questions, and support one another. Her leadership in this group has empowered countless families and built lasting bonds in the community. As a board member, Tina combines professional insight with personal dedication to help guide AXYS’s mission and growth. She is proud to support the organization’s work as a trusted, inclusive and empowering resource for all those affected by X and Y variations.
Director since 2025
Your name: Chijioke Ikomi, MD
Your connection to AXYS: Clinical care of children with X and Y chromosome variations
General location: Delaware
How long have you been with AXYS? Board member since 2025.
Brief professional bio: Dr. Ikomi is co-director of the eXtraordinarY Kids clinic at Nemours Children’s Hospital, Delaware. She is a board-certified pediatric endocrinologist and is committed to improving the care and outcomes of children with X and Y chromosome variations. Dr. Ikomi provides direct patient care, conducts clinical research and is a member of the AXYS Clinical Research Consortium. She is passionate about sharing knowledge about these conditions, with a focus on early diagnosis, improving gaps in care delivery and optimizing treatment plans as scientific discovery increases. Her goal is to connect medical advances with community impact such that individuals with X and Y chromosome variations thrive in the environments where they live, learn, grow and receive medical care.
Director since 2025
Your name: Pete Orrall
Your connection to AXYS: XXY
General location: Boston, Massachusetts
How long have you been with AXYS? Board member since 2025
Brief professional bio: Pete is a career IT professional and former EMT. As a human being with Autism, ADHD, and PTSD, Pete is a passionate neurodiversity advocate who uses personal experience and expertise to educate others and build equitable and scalable systems. Pete holds a Bachelor degree in Psychology and an MBA from Rivier College and a certificate in Design Thinking from Boston College. Through advocacy, Pete aims to build a better future for his son. Pete’s special interests are trail running and synthesizers. Pete enjoys spending time with his family, his dog Lucy, and his cat Luigi.
Director since 2020
Your name: John Sloss
Your connection to AXYS: I have a son with XXYY syndrome
General location: I live near Ottawa, Ontario, Canada
How long have you been with AXYS? I have been an AXYS board of Directors member for 5 years and have been part of the XXYY Project volunteer team for 8 years.
Brief professional bio: I have been employed in the Radiopharmaceutical medical isotope industry as an Instrumentation technologist for 23 years with BWXT Medical and Nordion. We produce various radio-active cancer treatments which are used globally. I have also been active within my work place as a union/employer contract negotiator and Chief steward.
Staff
Communications Manager
Executive Director Emerita
Prenatal Testing
Our Helpline (1‑267‑338‑4262 or helpline@genetic.org) volunteers and support parents give priority to providing information to expectant parents.
A non-invasive prenatal blood test (NIPT) on the mother only suggests a risk that the fetus has an extra X or Y chromosome. It is not a diagnosis. Follow up is needed.
Amniocentesis (a needle inserted into the uterus to draw out fluid-containing cells surrounding the fetus) and chorionic villus sampling (CVS, in which a small sample of the developing placenta is taken) can both show whether extra chromosomes are for certain present, and can serve as a definitive diagnosis.
After prenatal testing, it is always worthwhile to consult a genetic counselor. The National Society of Genetic Counselors have an online directory.
Watch this video on prenatal tests.
Children with X or Y variations are unlikely to have severe developmental disabilities. These genetic conditions tend to involve speech delay or learning disability, not profound delays that prevent independent living. Many families find that early intervention and special education services minimize the impact of the extra chromosome.
AXYS is pleased to provide you with the following letter written by a parent of a child with Klinefelter syndrome, but relevant to all parents of a child with an x or y variation:
I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy (SCA), one or more extra X and/or Y chromosomes. First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome… Read entire letter
Pregnancy Story
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TYLER: DELETE THIS!
Frequently Asked Questions
Frequently Asked Questions
47,XXY
47,XYY
47,XXX
All Conditions
Social Services Resources
Research Organizations
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How to Help?
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A Letter to Expectant Parents
Dear Parents:
I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy, meaning that your child has one or more extra X and/or Y chromosomes. First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome, a condition known as Klinefelter syndrome, or 47,XXY.
I also know that this diagnosis is an indescribable shock, and that it causes great apprehension for your child’s future. You may even have been told that you need to make a decision, quickly, about whether or not to continue with this pregnancy. So let me tell you a little bit of my story.
My son is now 25. He lives independently in an apartment, he drives, he can work, and he has also had girlfriends and hopes to get married in the future. I can tell you, however, that he had substantial delay in developing speech as a young child, along with low muscle tone and poor coordination, which is fairly typical of many children with X and Y chromosome variations. He responded well to early intervention, and largely caught up with his peers. Although he has an IQ in the normal range, he has significant learning disabilities and received special education services during school. He did, however, play violin and received a number of musical awards.
He is also kind, and compassionate, and has a great sense of humor. He plays golf and badminton, and although he dropped out of college in his second year because of his learning difficulties, he has determined that he now has the maturity to return, obtain the extra help that he needs, and complete a degree.
If I were to characterize John’s functioning on the “spectrum” of sex chromosome aneuploidy (SCA), I would say that he is squarely in the middle of the bell curve. There is enormous variation in how these children and adults present. In perhaps one-third of kids, there are no learning disabilities and few other complications or signs of the syndrome. In the other two-thirds, there can be mild to moderate learning disabilities, but intellectual disability is rare.
Most adults with SCA establish themselves in careers and live independently. Many have satisfying relationships and become parents. Most adults will tell you that while it took them a bit longer to become independent than their peers, they have had good lives, even though they may have had some struggles in childhood and adolescence.
I can’t tell you specifically what to expect. I can tell you that parenthood is always both a joy and a challenge and that the mild or moderate disabilities that may be present in children with X and Y chromosome variations are manageable. These conditions are not devastating, either to the child or to his or her family.
When you know about the condition before birth, you have a great advantage. Without prenatal diagnosis, these conditions often cause such subtle symptoms that diagnosis and the therapies that can minimize developmental difficulties are delayed, sometimes by years. Children with SCA often are remarkably responsive to early intervention therapies, and to special education programs that target their difficulties with reading and with verbal and written expression.
When you are aware of the specific deficits that SCA may cause, you can more quickly qualify your child to receive the services that he or she needs. When parents are committed to learning about SCA and address developmental and learning difficulties promptly with effective therapies, potential problems can be minimized.
More good news: AXYS is committed to assisting families in helping their children live successfully with X and Y chromosome variations. The organization also provides substantial and ongoing support and education for adults with SCA. This website features a number of resources that summarize some of the childhood manifestations of SCA, and provide you with a listing of resources so you can learn as much as possible about X and Y chromosome variations.
Finally, I want to emphasize that these conditions are surprisingly common, affecting 1 in 500 children. You do not need to feel that you are coping with this news alone; our community is there for you to provide support and education that will help you promote your child’s development and well-being.
Yours sincerely,
Virginia Isaacs, MSW
Author: Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by X and Y Chromosome Variation