🔴 "Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention*" PART 2.

Research over the past decade has established that neurodiversities such as Autism are far common in people with an Extra 47th X or Y chromosome than in the average population. At the same time, most are not Autistic.

What does this mean in practice for parents who have a young child diagnosed with an extra chromosome?

Groundbreaking research published in 2022 shows that Autism in Extra X&Y children be predicted as early as the age of 1. This matters, because it means early monitoring of social adaptive functions of children with Extra chromosomes should be done as routine care within the first years of life.

Not only may it allow to avoid an irreversible cascade of negative lifelong effects, it could also significantly improve parent wellbeing with relief from stress and uncertainty regarding their own parenting and offer the opportunity to learn effective coping strategies when interacting with their child.

Part 1 featured the abstract, introduction and methods that allowed to come to this conclusion. Part 2 explains the study’s results and discusses its important implications.

* Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Eur Child Adolesc Psychiatry. 2022 Sep 15. doi: 10.1007/s00787-022-02070-y. Epub ahead of print. PMID: 36107256.

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://buy.stripe.com/3csg07g8LbaB5X2dQW

🟢 "I'm a thunderstorm kind of guy" - Gary Glissman, 1950 - 2023.

In this podcast you’ll hear two back-to-back episodes with Gary Glissman, recorded October 2022 and re-edited into a single full 45 minute version in tribute to Gary's passing.

It is possibly the most important Chromodiversity podcast to date: Gary discusses with brutal honesty the life and death of his son Michael, and highlights the urgency of changing the way common genetic difference is considered and supported around the world.

Few people made a bigger difference in the lives of many thousands of families and individuals living with #chromodiversity than Gary.

A powerful advocate for awareness, #education, #research and effective #medical care, Gary became involved with #neurodiversity and #Klinefelter syndrome (KS) after his son Michael was diagnosed with an Extra 47th X chromosome in 2008 at the age of 24.

Gary was a Senior Health Care Executive his entire life. He was involved clinical operations for major organizations such as Walgreens, CHD Meridian Healthcare, Interim HealthCare Inc. and the University of Nebraska Medical Center.

Gary served on the Board of Directors of AXYS (Association for X and Y chromosome Variations) and was named Board Chair in 2017. He retired from that position in 2021 and joined the Chromodiversity Foundation Advisory Board in 2022.

Gary was instrumental in the coming of age of the Chromodiversity movement launched January 2022, and the setting of our vision for a new approach to global healthcare for people with common genetic differences.

Born in Omaha Nebraska September 21, 1950, Gary Glissman is survived by his loving wife of 42 years, Paula Glissman. He is preceded in death by his son Michael Glissman, June 23, 2022 at the age of 37.

💜 Gary and Michael, you meant so much to so many. Your inspiration will remain with us forever.

🔴 "Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.*" Although not many medical professionals may be aware, research over the past decade has established that neurodiversities such as Autism are far common in people with an Extra 47th X or Y chromosome than in the average population. At the same time, most are not Autistic.

What does this mean in practice for parents who have a young child diagnosed with an extra chromosome? Is it possible to predict in advance if their own child is more likely than not to be Autistic? If so, is there a way to predict which Autistic traits are most likely? And is there anything that can be done to change outcomes for the better.

Remarkably, as this groundbreaking research published in 2022 shows, the answer to all of these questions is YES.

In today's first of two parts you’ll hear the abstract, introduction and methods that allowed to come to this conclusion. The second part, to be released next week, will explain the study’s results and discuss its implications.

* Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Eur Child Adolesc Psychiatry. 2022 Sep 15. doi: 10.1007/s00787-022-02070-y. Epub ahead of print. PMID: 36107256.

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://buy.stripe.com/3csg07g8LbaB5X2dQW

🟢 "Don't ever underestimate what even 5 minutes of just listening and validating someone's experience can lead to (...). It is the best gift (a doctor) can give any patient."

Historically seen as a rare genetic difference of little interest to medical professionals - taught to "look for horses, not zebras" - Ehlers-Danlos Syndrome (EDS) may be be far more common than previously thought, particularly in its 14th Hypermobility (HSD) form . It is increasingly understood not only to result not only in physical challenges but also potentially neurodiversity like Autism and ADHD.

Fortunately, thanks to improved classification of symptoms and better awareness of its wide variability, EDS and HSD are starting to appear on the radar of doctors and diagnosis is increasing.

This matters, because although treatments are still lacking, diagnosis alone can provide enormous relief and improve quality of life by

• Freeing from sometimes decades long diagnostic odysseys
• Providing life changing recognition and validation
• Giving access to highly supportive communities
• Allowing for well-informed self-management
• Avoiding potentially damaging mistreatments.

Thanks to Professor Lara Bloom's success in uniting the Ehlers-Danlos Society into single global organization, it has been able to act as a one-stop source of information and support for people with EDS, accelerate health care provider awareness, increase diagnosis rates, raise millions of dollars for research, and fast-track the perspective of future treatments and cures.

* Professor Lara Bloom is President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic, and invisible diseases related to Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). Lara manages coordinated medical collaboration, raising funds for research, and focusing on the global progression of EDS and HSD. She speaks at conferences all over the world, lecturing to medical students and professionals, and supports specialists in the field by offering her experience as a leading Patient Expert. Commemorating ten years in the field of patient advocacy, Lara was officially appointed a Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, on March 11, 2020.

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://buy.stripe.com/3csg07g8LbaB5X2dQW

🟢 "Great genetic progress", "exciting early neurocognitive interventions", but "grave deficiency in current testing and care models" around the world. Listen to an easy to understand 25 minute summary of the very latest research on the most common chromosomal differences in humans, authored by 10 of the world's leading researchers and clinicians. You'll hear how new science brings more questions than answers, but also exciting breakthroughs for early age support and improved quality of life including:

• Fast changing understanding of how supernumerary chromosomes result in multiple genome wide effects, debunking the traditional thinking that widespread increased health risks are primarily due to hormonal effects, opening novel perspectives for prevention of heightened lifelong health risks
• Breakthroughs in early age identification of Autism, ADHD & emotional regulation developmental trajectories specific to Extra X&Y chromosomal differences, with the first evidence-based interventions shown to improve quality of life both of young children and their parents
• Recognition of the importance advocacy organization priorities in research and clinical care, highlighting enormous burden on families facing ill equipped health, educational and social systems due to grave, persistent deficiencies in current genetic testing and care models around the world.

* Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkebæk A, Tartaglia N, Swaab H. New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XXY. Endocr Connect. 2023 Jan 1:EC-22-0500. doi: 10.1530/EC-22-0500. Epub ahead of print. PMID: 36598290. Copyright 2023: the authors

Click here for link to full written article, including figure 1

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://buy.stripe.com/3csg07g8LbaB5X2dQW

🟢 “Had I been diagnosed earlier, how much more could I have accomplished?”

In our previous episode “Peter’s XXY Journey Part 1: a 63-Year Diagnostic Odyssey”, Peter Street from Australia compares his seemingly endless diagnostic odyssey to getting a boxing ring with as your opponent the invisible man - not knowing where the next punch will come from.

In this second of two episodes, he shares key takeaways from years of hard earned experience such as:

• For people with chromodiversity: it's ok to feel different, important not to compare yourself to others, and essential to find the right support networks.
• For parents: let your children make mistakes, get them the best education you can, encourage their independence, and be wary of endless negative information on the Internet.
• For doctors: listen, listen and listen again. Family practitioners need better training about genetic differences, as do teachers. The earlier the diagnosis, the better, provided there is easy access to up to date information & help.
• For researchers: interview more parents and take the unique insights of lived experience into account.

This episode concludes Season 2 about “Growing Up With Chromodiversity” featuring a mix of groundbreaking early age research and lived experience.

At a time of blistering advances in genetics and digital healthcare, tune in next week for Season 3 on the topic of "New Science and New Support."

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://www.chromodiversity.org/donate

🟢 “95% of my life has been spent not knowing of my 47,XXY. It was like getting into a boxing ring with as your opponent the invisible man. You never saw where the punches were coming from.”

In this exceptional podcast with Peter Street, you’ll hear the remarkable story of a man from Australia who found out 3 years ago, at the age of 63, that he happens to have an Extra X chromosome, also referred to as 47 double XY, Klinefelter syndrome or KS.

While this may seem late in life to discover a genetic difference that affects almost every aspect of one’s growth and well being, in fact the vast majority of people with common X&Y chromosome variations are never diagnosed at during their lifetime.

As far as we know, this is the first time ever a person with an X or Y chromosome variation accepts to speak publicly about a diagnosis so late in life - and Peter was understandable hesitant to do so.

Once he agreed, he spent many months preparing this interview, working hard to put to paper over half a century of experience in the rear view mirror of an entirely unexpected life changing discovery.

This is why, as you will hear, most of Peter’s answers are not improvised, but read out from his pre-prepared written notes.

🙏 Chromodiversity™ is a listener funded podcast. Make a difference by donating here: https://www.chromodiversity.org/donate

🟢 "Kindness Kills..." Despite all the talk about diversity and inclusion, why are children with genetic differences and disabilities still socially excluded? And what do we plan to do about it?

In this second of two episodes, Jodi Samuels, author, speaker, disability advocate and mother of a teen daughter with Down syndrome, explains why she "hates kindness", relentlessly questions our current approach to diversity, and calls for "radical inclusion".

* ABOUT JODI

Jodi Samuels is an author, speaker, serial entrepreneur, world traveler, disability advocate, super mom and wife living in Jerusalem. She challenges mindsets and brings her passion for life to her work as a not-for-profit leader, community activist, disability advocate and entrepreneur. Her message is simple: Go be unstoppable.

Jodi’s highly regarded memoir is called Chutzpah, Wisdom and Wine: Journey of an Unstoppable Woman. She is currently working on a new book dedicated to concrete, practical advise for parents with children who have disabilities. Learn more on www.jodisvoice.com and https://twitter.com/cailysworld.

🟢 "YOUR CHILD IS A PERSON FIRST, NOT A MEDICAL CONDITION." In this first of two episodes, Jodi is brutally honest about the challenges she faced...

• coming to terms with her daughter’s diagnosis of Down's syndrome ("Trisomy 21": 3 copies of chromosome 21 instead of the usual 2, thought to occur in 1 in 800 infants);

• dealing with seemingly endless stream of negative information shortly after birth

• and lack of positive information how children with Down's can live happy, increasingly healthy long lives.

You'll also hear about

• how Jodi came to accept and embrace her daughter's differences and strengths;

• her skepticism of "performative kindness" that can mask the absence of real, meaningful action;

• and - facing the reality of social exclusion - how she has come to advocate for what she calls "radical inclusion".

Perhaps the biggest takeaway of this episode is her belief that for parents, the single thing that matters most is to see your child as a person first, not a medical condition.

ABOUT JODI

Jodi Samuels is an author, speaker, serial entrepreneur, world traveler, disability advocate, super mom and wife living in Jerusalem. She challenges mindsets and brings her passion for life to her work as a not-for-profit leader, community activist, disability advocate and entrepreneur.

Her message is simple: Go be unstoppable.

Jodi’s highly regarded memoir is called Chutzpah, Wisdom and Wine: Journey of an Unstoppable Woman.

She is currently working on a new book dedicated to concrete, practical advise for parents with children who have disabilities.

Learn more on www.jodisvoice.com and https://twitter.com/cailysworld.

🟢 "We're not a disorder. We're not a syndrome. We're people." [Warning: this episode contains explicit language]. Toby Whittington is a successful social entrepreneur from Australia who found out he has an Extra X chromosome at the age of 32 - a discovery that changed almost everything in his life.

In this second of two episodes, he explains why he believes it is important not to become the victim of diagnosis, rejects considering Klinefelter’s as a "syndrome", and identifies as a part of the wider Intersex community - on the premise that diversity in humans is the norm not the exception.

This straight talking conversation covers a wide variety of topics including

• the rise of the Intersex movement
• what it's like to live with synaesthesia that turns touch into 3-D images
• how he believes it in our power to turn our lives into "heaven" or "hell".

🎁 Your weekly podcast Chromodiversity™ will be back Tuesday January 3 2023 with fresh content featuring world leading researchers, authors and advocates. Thank you for your interest and support in 2022 and Happy Holidays to all!