Growing old with Alfred

Good to see The Chromodiversity Clinic making headway and reaching out to the people most impacted by genetic differences. As someone who has written extensively about my own experience, I can honestly say when opportunities arise that afford us the opportunity to reach out to an audience beyond social media chat rooms, we should grasp them with both hands. The hope is that our life experiences will make someone else’s journey to acceptance that little bit easier to manage.

In this podcast, the host speaks with Alfred Jonker, the President of the Dutch Klinefelter Association and a visionary in his approach to supporting people with common chromosomal differences.

In this first episode of two, you’ll hear the story of how he found out about his own Extra X, the challenges he faced and coping mechanisms he discovered growing up with a chromosome diversity, and why he believes early detection is the key to unlocking better futures.

Advice for Parents

Please remember I am not you. Allow me to make my own choices and explore my being. Don’t ask me if I feel like a boy or a girl. Chances are I cannot explain my feelings to you in a way you can understand. I need you to make decisions on my health care when I am too young to make them, to base them on good information and not out of a desire to shield me from something you may perceive uncomfortable.

I need you to be honest with me about my health. Allow me to see my doctors on my own. When I am young, please keep my health and school records organised. When I get older, teach me how to do this myself. Always be my number one advocate and speak for me when I cannot communicate my needs and wishes. As I grow, teach me to advocate for myself. Regardless of my age, always respect my privacy. Please don’t use me as a poster child for XXY to your friends or the XXY community. These are sensitive issues, and my health and welfare are confidential information. One day I will become an adult, and it will be my decision about how much of my privacy I am willing to surrender. When you talk about me on support forums, remember nothing on the internet ever truly goes away.

I need you to love and accept me unconditionally for who I am. Take the time to listen to me and get to know me. I am the one to speak to about my private information. Doing so lets me know there is no shame in being me. Let me explore my artistic and creative self through art, dance, language, music, and skills.


What we wish doctors knew about us

If you are a doctor and consider yourself an expert in all things XXY, then it’s best to leave now because you will never learn anything about us. Adult XXY’s often have adversarial relationships with physicians. If you have a patient like that, don’t take it personally, it’s usually because the medical community has mistreated us for several decades. We might be wary when we meet a doctor for the first time. We assess you as a potential doctor as you consider us a likely patient.

Please don’t assume that you are more knowledgeable by going to Medical School than those of us who live it. When you went to medical school, research done and given to you about XXY was smaller than a paragraph, and most of it was negative.

I need my doctor to keep an open mind. Their primary oath is not to harm. I expect them to be interested in new studies and educate themselves about the latest research in complex data and testimonials of XXY people. If I say testosterone is making me ill or if I ask for a trial of estrogen, please explain the outcome without judgment and based on my medical tests. Please respect that I know my body and am in sync with how I feel.

Remember, I am a human being first, not a condition, disease, anomaly, or freak of nature. I am so much more than my chromosomes and my physical body parts. Care for my body to keep it healthy but don’t try to manipulate or change it with hormones or surgery to how you think it should be without asking me first.

Avoid assumptions. Just because I also have a phallus, don’t assume that the best solution is to cut off my breasts. Maybe my breasts are an intricate part of maintaining my inner sense of well-being. I need my doctor to show me how to give a self-breast exam for breast cancer and teach me how often I should do this.

Take the time to explain the virilising effects testosterone will have on my body and allow me to decide if I want to incorporate body and facial hair, male pattern baldness, and hyper sex drive into my being. When you consider any treatment or procedure, be sure also to tell me what will happen if I choose to do nothing.

Just because I choose to identify my gender as male and take testosterone does not cancel out any in-betweenness I might display. Testosterone does not change my genetics. Let me talk about how I experience the Intersex quality of my being in an open, non-judgmental place of safety. The most important aspect of life for all XXYs is appropriate medical care. Forcing them to limit their gender expression to male-only can harm their well-being.

Talk to me, not at me and not just about me with my parents. I can understand things if explained to me, and I can make decisions about my own body. Be honest with me. Ask permission to examine me so I know that you recognise my body and choice. Don’t speak in absolutes or tell me how I will turn out. Always remember that my needs come before the needs of my parents, my doctors and society. If you are unsure about my needs, please proceed cautiously, especially in areas that cannot be undone, such as mastectomy.

Ask to see me without my parents always being in the room. Allow me or my family to disagree about a particular treatment you wish to try. Be willing to be a part of a respectful negotiation process about any disagreements regarding treatment. Celebrate my successes with me. Ask me about my hopes, dreams, and plans. Don’t fix my gender without helping me to understand who I am. Don’t try to fix me with hormones or surgical intervention before I am old enough to understand.

Qualities We Look For In a Doctor

  • Curiosity.
  • An ability to actively listen.
  • Someone who provides cooperative healthcare as in co-relationship, not a doctor “doing” something to me, but a doctor working with me to help me achieve my optimal health.

DNA from a medieval skeleton in Portugal reveals XXY chromosomes

This article was originally published by the Australian Broadcasting Cooperation (ABC). We have reposted it here in its entirety to allow access for non-Australians and also to preserve information specific to the community.

When Portuguese archaeologists unearthed the skeleton of a remarkably tall man who lived more than 1,000 years ago, they assumed he was too tall to be a local.

Standing around 1.8 metres, he would have been around a head taller than other adults of the time.

But DNA extracted from his bones revealed not only was he from the region, he was also born with a genetic condition known as Klinefelter syndrome.

Those with the condition are born with an extra X chromosome and tend to be taller than average.

It affects one in 600 male births today.

The diagnosis by researchers in Portugal and Australia was reported in The Lancet.

João Teixeira, ancient DNA and evolutionary biologist at the Australian National University and co-author of the study, said it was the oldest confirmed case of Klinefelter syndrome so far.

Key points:

  • Researchers analysed the DNA and bones of a 1,000-year-old skeleton excavated from modern-day Portugal 
  • They found the individual had a genetic condition which meant they were born with an extra X chromosome
  • The diagnosis explains some of the skeleton’s features, such as its unusual height and wide pelvis
The individual was buried in an oval-shaped grave with arms crossed over their chest (Supplied Sophia Tereso)

“We’re interested in developing this [technique] further and applying it to other archaeological specimens to look not only for Klinefelter syndrome cases, but also other [conditions like it].

“This could help give us an idea about the frequency of these genetic conditions through time.”

Site of historical importance

The statuesque skeleton was one of a few dozen excavated from the mountainous medieval archaeological site of Torre Velha in north-eastern Portugal, between 2012 and 2015.

In Roman times, it was the site of a settlement that sat at the junction of roads connecting cities across the Iberian Peninsula.

“We’re interested in looking at this place because of all the different peoples that inhabited it, and to understand the different migrations of people, from the Romans to the Germanic tribes to the establishment of Portugal,” Dr Teixeira said.

When people’s remains were discovered, they were carbon-dated to find out when they died, and their DNA extracted and sequenced.

DNA analysis on ancient specimens isn’t always possible. Long strands of DNA, which are twisted up as chromosomes in our cells, tend to fall apart and get chopped up by bacteria after we die.

Sometimes there are simply not enough long strands left to elicit much meaningful information.

Still, DNA that’s thousands of years old can yield a wealth of information about a person, such as their ancestry and biological sex.

Biological sex is determined by our sex chromosomes, which come in two types: X and Y. We usually inherit an X from our mother or an X or Y from our father.

Genetic females are typically XX while males are XY.

When Dr Teixeira and his colleagues scrutinised DNA from the tallest Torre Velha skeleton, which was thought male from the shape of the bones, they found something unexpected.

“The amount of DNA fragments mapping to the X chromosome was compatible with a female, but then we had as much mapping to the Y as you have for males,” Dr Teixeira said.

“We were intrigued.”

Statistically, the individual was all but confirmed to be XXY — Klinefelter syndrome. This happens when an egg or a sperm contains an extra X chromosome.

And when Dr Teixeira’s colleagues closely examined the skeleton, they could see signs of the condition in the bones too.

First up, the individual’s height stood out, Dr Teixeira said, “and 1,000 years ago, 1.8m was seriously tall”.

The skeleton also had other potential Klinefelter symptoms such as broader-than-usual hips, and teeth that were worn more on one side than the other, perhaps because the person had an underbite.

The bigger picture

Pairing genetic findings with skeletal evidence strengthens the study’s findings, according to Sally Wasef, who works with ancient DNA at Queensland University of Technology and was not involved with the work.

“It’s really interesting that you can tell, from ancient DNA, the existence or not of a medical condition,” Dr Wasef said.

“But without [archaeological evidence], you’re only looking at a single piece of a puzzle, and trying to work out what the whole picture looks like.”

Dr Teixeira said the technique could be used to glean information about extra or missing chromosomes in situations where DNA samples were degraded, such as forensic investigations.

It could also be used to look for genetic conditions such as Down syndrome, which is caused by the presence of an extra copy of chromosome 21, through human history.

And as for how far back they could go?

That depends on the quality of the DNA. If a specimen is left undisturbed in the frozen Arctic, its DNA will be in much better shape than another in the hot, humid tropics.

“But if you find a really well-preserved specimen from 30,000 years ago, I think you could do it,” Dr Teixeira said.

Sourced from ABC (Australia)

Podcasts: By The Chromodiversity Foundation

Photo by: Harry Cunningham

We think you will like this excellent podcast initiative by Elliot Polak, of My XXY – Chromodiversity Foundation that makes understanding research papers a great deal easier for those who yearn for information but fail to grasp the medical language they use. Elliot breaks it down into its raw form and goes to great lengths to ensure it is understood.

Our Sincere Condolences to the Glissman Family

The XXY Project offer our sincere condolences to Gary and Paula Glissman on the passing of their son Michael who was born XXY and struggled to find his place in the world. His father, Gary, has long been associated with AXYS, holding many positions before gravitating to Chairperson, a position he held for many years before retiring in 2021. In that role, Gary often spoke of his son’s struggles and how, following a late diagnosis and subsequent access to Testosterone (the standard treatment of care), Michael was pulling his life back into line, and for a while then, his future had been a lot more positive, and things were looking up.

Rest in peace, Michael; this XXY business will bother you no more.

47XXY/KS Awareness Day 2022

The 10th of May 2022 is the day set aside to mark this important day of awareness. We can think of no better way to promote it than sharing a video presentation from the Klinefelter’s Syndrome Association UK. Unlike all previous presentations, by Klinefelter Syndrome / XXY organisations throughout the world, this particular one was made entirely by an XXY individual and showcases not only his creativity but, also does an outstanding job of telling the story as it really is.

Unfortunately, as doctors gain the upper hand in determining the fate of an XXY fetus and how more would-be parents are opting for Non-Invasive Pre-Natal Testing our numbers are dwindling. Not helping matters are Geneticists who inform parents their child’s upbringing should they choose to proceed will be as difficult as raising a child with Downs Syndrome, yet we who are XXY know nothing could be more further from the truth.

Our lived experiences tell of a different outcome, one where appropriate non-pharmacological interventions beginning in early childhood have a positive outcome and allow the child the ability to thrive and be every bit as successful in life as non-XXY, all that’s required is that initial leg up and thereafter everything else will fall into place. If you are a parent and wondering how to proceed we encourage you to reach out to KSAUK, The XXY Project or another organisation in your country so that we can assist in making that decision a little easier for you.

The XXY Project hopes it is an Xtra special day for all of you and that wherever you are in the world and however, you present your XXY individuality you use the occasion to raise your kind of awareness for the things that matter most to you.

More about the presenter can be found here

Mapping the Lived Experiences of Intersex/Variations of Sex Characteristics in Ireland

Kudos to Tanya, Maria, Mel and Anthony at DCU for finalising and publishing this invaluable report in such unprecedented times. It is hoped the finding will lay the groundwork to improve the lived experiences of those not yet diagnosed and all others who have gone unnoticed or have not been able to find resources and appropriate medical care for their particular needs.

This study is the first of its kind in Ireland that sheds light on what it means to be intersex/born with a variation in one’s sex characteristics. No data set like this previously existed that would facilitate our thinking about how to interrogate aspects of Irish life and society that adversely affect the lives of those born with variations in their sex characteristics. The findings demonstrate that intersex people/those born with VSC are a hidden, vulnerable and extraordinarily diverse and resilient group.

The interview participants are all over forty and their stories document lived experiences of struggling to understand who they are, negative experiences of childhood healthcare, trauma, and attempts at advocacy as they navigate Irish officialdom through health, education and life more generally. In many incidences, the law is not on their side as they seek meaningful and holistic care that is not delivered through rigid adherence to the male-female binary way of thinking about bodies or as they try to learn about themselves in order to assemble a coherent self-concept. There is much room for improvement in terms of health, education and law and the survey participants attest to this also.

Increased risk of Venous Thrombosis in XXY/KS further exacerbated by testosterone therapy

This study demonstrates poor awareness of the known VTE risks in KS and the potential VTE risks of TT within this cohort. Patients not informed of the inherent risks associated with their condition may be less vigilant to complications, unaware of lifestyle decisions affecting risks, and not able to make informed decisions about medical care. Further studies are needed to understand the mechanisms leading to the increased VTE rate in KS. Moreover, an investigation into the relationship between TT and VTE is warranted to weigh the benefits of TT in VTE-prone patient groups like KS. Educational materials, such as a patient information pamphlet distributed in clinics and via associations like the UK’s KSA, are also needed to enhance awareness amongst KS patients of their VTE risk and potentially increased risk with TT.



A New Approach to Seizure Treatment

There are many types of epilepsy, a brain disorder that causes recurrent seizures or periods of altered behaviours or sensations. Around one per cent of the world’s population is thought to be impacted, or as many as 70 million people. In epilepsy, the electrical signals transmitted through neurons in the brain are disrupted. There are some treatments for the disorder, but as many as one-third of cases don’t respond to current therapies.

Scientists have now found a new approach for treating epilepsy that focuses on correcting abnormalities in the blood-brain barrier, which have been associated with epilepsy. The findings have been reported in Nature Communications.

Brain cells use a lot more energy compared to most other cells types in the body. A network of capillaries called the blood-brain barrier (BBB) provides those cells with the nutrients they need, while carefully protecting the brain. The BBB is so extensive, that each brain cell seems to be fed by its own capillary. But when that network of blood vessels becomes disrupted and its integrity is impaired, seizures may occur.

This research has suggested that if the lost integrity can be restored in the BBB, seizures would be prevented. If additional research confirms these findings, it could lead to treatments for epilepsy patients that don’t respond to current drug options, said senior study author Dr. Matthew Campbell, an Associate Professor at Trinity College Dublin. “This work represents one of the first conclusive studies that pinpoint a key feature of seizures that has, to date, not been studied in great molecular detail.”

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