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The Importance of Naming Every Disease...Rare Disease Daily #14: 17q12 Duplication Syndrome

  • Writer: yannick-robin eike mirko
    yannick-robin eike mirko
  • May 25, 2023
  • 4 min read

T-MINUS 280 DAYS UNTIL RARE DISEASE DAY


Hello friends, hope you’re well. So, if you haven’t noticed already, in this program, I am going down the list of documented rare diseases, in an alphabetical manner, putting all numbered diseases before getting to the alphabet. In the first two weeks of Rare Disease Daily, we’ve gotten to know a series of syndromes caused by chromosomal microdeletions and duplications. Today’s syndrome is a duplication variant of the disease we covered yesterday! I’m bringing this all up because I had a thought in the process of writing these that I worried some of you might’ve had as well, so we’re going to dismantle what lies underneath the thought, together.


I think a LOT about the time I spend online, what I say online. Taking pride in myself as an advocate can be difficult, considering part of being the change you wish to see means crossing paths with people who aren’t ready to see you yet, which can be a painful experience. If people squirm their thoughts into the squishy parts of my brain well enough, I start to question the point in making anything at all. I am not Hank Green, or Mark Rober, science loving bros who can also have some fun with it. I pay a lot of attention to the little things, in ways that I fear bore others. I had a choice when starting Rare Disease Daily, to clump any similar diseases together in a single episode, or to give them all the space to breathe. I considered clumping them together, out of the imposter syndrome looming above everything I do. But then I thought about the concept of using the phrase ‘I have a rare disease’, when people ask about my health. I don’t name the disorder, I say the term ‘rare disease’. Why do I do this, you ask?


Because there are over 7,000 documented rare diseases. The varying prevalence of the disorders within the population of this spinning globe really puts the term ‘varying’ to use. My disease has a very, very small handful of people living with it - and I only met one other one through a chance encounter. No one is going to know what I’m talking about if I say specifically what I have, because no one else has it, no one wants to put the effort or money into studying it, no one cares….so why name it? The National Organization for Rare Diseases says, "Alone we are rare, together we are strong."


All of that to say, I want to apologize to the community affected by today’s rare disease, as I tried to silence you in the fight against the silencing. This is not me dogging on the term ‘rare disease’, as I am grateful to belong to a community of over 30 million strong. I just sometimes feel a little lost and forgotten when we talk about it so vaguely, so broadly. I would want someone to take the time to name my specific, affecting-almost-no-one disease, because even me, the one person, imposter syndrome and all, deserves to be seen, heard, and respected.


I am sorry I almost let the opinions of others get in the way of you shining, I promise it won't happen again.


The National Center for Advancing Translational Sciences 17q12 Duplication as a syndrome occuring when a person has an extra copy of a portion of chromosome 17. People with an extra piece of genetic information in chromosome 17 may range from a variety of experiences including never having any symptoms to having symptoms from birth to symptoms developing later in life. The signs and symptoms include association with “developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects, non-specific dysmorphic features, hypotonia (which is decreased muscle tone), cardiac and renal anomalies, schizophrenia.


The prevalence of this disease is less than one in one million. Diagnosis can be confirmed through genetic testing using chromosomal microarray, or CMA. Treatments for people with this syndrome include physical, occupational, and speech therapies, as well as behavioral health management. The 17q12 Foundation assists those with the Deletion, as well as helping those with the Duplication syndrome. You can learn more about how to help them, in the episode transcription links.


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 #14, 17q12 Duplication 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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