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Rare Disease Daily #13: 17q12 Deletion Syndrome

  • Writer: yannick-robin eike mirko
    yannick-robin eike mirko
  • May 24, 2023
  • 3 min read

Updated: May 25, 2023




T-MINUS 281 DAYS UNTIL RARE DISEASE DAY


Hi friends, hope you’re well. What can I say, the disabilities be disabling me sometimes, which is why yesterday didn’t happen for Rare Disease Daily. It’s daily with a little star next to it that says “if there are the spoons for it”, you know what I mean? For non spoonies, the spoon theory essentially makes spoons capacity measurements, where in a healthy/abled persons cabinet there are limitless spoons, people like me may only have like two or one a day, so what we choose to do is rather important. Anyways, luckily we have our first disease we’re covering to actually have a foundation! So in this one we’re getting into the syndrome breakdown as well as hearing about where specifically we can help out, as well as some thoughts from parents of people living with this rare disease.


The National Center for Advancing Translational Sciences describes this syndrome as a “chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome. Signs and symptoms may include developmental delay, intellectual disability, and behavioral or psychiatric disorders. Some people with 17q12 deletion syndrome have seizures, and/or abnormalities of the eyes, liver, brain, genitalia, or other body systems. 17q12 deletion syndrome is inherited in an autosomal dominant manner (which means two copies of abnormal genes must be present in order for this to manifest downwards in the family line from parent to child); however, in most people with this syndrome, the deletion is not inherited from a parent and occurs sporadically. Less commonly, a person with 17q12 deletion syndrome inherits the deletion from a parent. Children of a person with the deletion have a 50% chance of inheriting the deletion.”


The prevalence of this disease is less than one in one million, and the diagnosis can be done through chromosomal microarray testing, or other genomic methods.


Fun fact, July 12th is 17q12 deletion or duplication syndrome day! The 17q12 Foundation is a 501(c)(3) organization that aims to raise awareness, provide up-to-date information, and facilitate resources to affected individuals and families, through supporting research via diligent networking and advocacy. They interact with the community and share stories to help others understand the experiences they live through, I will link to the video that shared some of these parent testimonials, but I’ll read some out to you now, so you can get a feeling for how the things they wish others knew about 17q12 Deletion Syndrome.


“My child doesn’t have certain symptoms now, but it’s unsettling knowing that they can develop at any time, or not at all. I wish people knew how sleepy he is. I wish people understood that just because they haven’t heard of it doesn’t mean it’s not real. It’s so hard to have people look at you like you’re making things up.”



To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.


Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.




This was Rare Disease Daily #13, 17q12 Deletion Syndrome



I’m yannick-robin. Thank you for your time.


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yannick-robin eike mirko [who communicates in Spanish, English, + ASL] is a Manhattan-based Biawaisa/Yamoká-hu/Maorocoti multidisciplinary artist, choreographer, writer, doula and disability justice activist with a rare disease. His work sits at the intersection of movement, access, queer and indigenous survival, death care, and institutional accountability, using the body as archive, protest, and living evidence.

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Her relationship with dance and movement has never been linear or purely technical. From Off-Broadway to online, their work has been shaped by access, interruption, advocacy, and forced stillness. Movement and progress, for yannick-robin, is not simply choreography or activism; it is testimony, how a marginalized body speaks when institutions fail to listen. 
 

In 2021, yannick-robin participated in Drawing Breath, a visual and embodied project by Risa Puno that centered marginalized voices during COVID, with yannick-robin representing disabled people. The work focused on breath, endurance, and visibility at a time when disabled lives were being openly treated as expendable. This project cemented their understanding of movement as political: presence itself became resistance.
 

In 2022, disability justice became inseparable from his professional life. He was the first physically disabled actor/musician [acoustic and electric guitar, accordion, glockenspiel, xylophone, tambourine] to play a physically disabled role written through an ableist lens and publicly fought the theatre and writers for accountability. This work was documented in his blog and a documentary, a social media movement, and ultimately led to his inclusion in the University of Minnesota’s Tretter Transgender Oral History Project, archiving his contributions to disability, gender, and labor justice in theatre (the most recent edition/collection of years awaiting entering the public access archive due to funding and completion of editing. Help fund the preservation of non-cis history here).
 

That same year, he worked on Mr. Holland’s Opus at Ogunquit Playhouse as an actor/musician [bugle, trumpet, drum kit], a fully captioned production where his lived experience as a non-cis deaf and physically disabled artist directly informed their performance rhythm, physical storytelling, and musicality. Also in 2022, she performed in the inaugural Breaking the Binary Theatre Festival on Theatre Row under the direction of L Morgan Lee, delivering work as an actor involving monologuing about wheelchair use, access failure, and systemic injustice, using their body not as metaphor, but as evidence. 
 

In 2024 after a year and some change prioritizing deathcare work, they returned to theatre at New York Stage and Film (NYSAF), contributing to the work of disabled choreographer Jerron Herman as an actor/dancer. They also released their multi-genre EP passing that year, which catalogs their multi-instrumental writing and use of music for processing as they fall deeper into grief, hearing loss and deafness, and a world of being misunderstood for not being cis.

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In 2025, yannick-robin worked on the developmental process for Jay Alan Zimmerman’s upcoming show Songs for Hands on a Thursday, following Jerron Herman’s recommendation. The project included a residency at New York Theatre Barn’s Choreography Lab and a music workshop premiere, where yannick-robin served as both choreographer and dancer. The piece centered a Deaf father’s death and a CODA grappling with silence; yannick-robin’s role was to integrate sign language into choreography and bridge gaps between sound, access, and movement for d/Deaf performers.
 

Alongside his performance work, yannick-robin has been active in nonprofit and advocacy spaces since 2020. She worked for Imara Jones of TransLash Media, one of TIME Magazine’s 100 Most Influential People of 2023, where they were nominated for a Webby Award as an associate and digital producer for The TransLash Podcast, contributed to The Anti-Trans Hate Machine series, and wrote obituaries for TGNC siblings lost to violence. He has written for TalkDeath on racial disparities and discrimination in death care and other deathcare and injustice related topics and now offers obituary writing, death doulaship, and bereavement counseling for TGNC decedents and their families, people with rare diseases, and disabled communities.


for commissions, death care, speaking engagements and more, press the contact button.
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yannick-robin eike mirko is represented by Arise Artists Agency

© 2026 yannick-robin eike mirko

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