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Rare Disease Daily #16: 18 Hydroxylase Deficiency

  • Writer: yannick-robin eike mirko
    yannick-robin eike mirko
  • May 31, 2023
  • 2 min read

T-MINUS 274 DAYS UNTIL RARE DISEASE DAY



The National Center for Advancing Translational Sciences describes CMO 1/18 Hydroxylase Deficiency as a disorder developing from two copies of an abnormal gene passing down a family line or, in an autosomal recessive manner. In this case, the “abnormal gene” lies within the penultimate biochemical step of aldosterone biosynthesis, which is the process where aldosterone (a steroid hormone) is “sythesized and secreted from the outer layer of the adrenal cortex” which is triangular glands right above both kidneys. Fun fact: the main role of aldosterone is to regulate sodium homeostasis, which helps control blood volume and blood pressure. Going back now to CMO 1 Deficiency now that we know about this enzymatic defect, we can see that it results in aldosterone not being detectable, whereas its immediate precursor, 19-HB, is low or normal. This can cause decreased aldosterone and salt-wasting. Symptoms can include poor feeding, vomiting, dehydration, intermittent fever,



The prevalence of this disease is unknown, or at least hard to find on my end. This disease is tripping me up a little bit because Orphanet, a common source for me that offers disease reports in various languages (though is in some ways lacking in it’s equity in describing some experiences and symptoms, as all websites have work to do in that regard, it’s why this program exists), once had a page for this disorder, now marked with an all-caps OBSOLETE along with a link to a completely different disorder that doesn’t really add up to me. I wish there was a clearer answer on this one, I’m sorry if there is and I just hadn’t found it yet at the time of recording this, though I’m very open to edits for the English and Spanish reports of this that are going up on my website, if anyone has org recommendations or leads on the history of this disease.



There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? 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.


English and Spanish transcripts available at yannickmirko.com.




This was Rare Disease Daily #16, CMO 1/18 Hydroxylase Deficiency.




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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