Nicole Frankenstein
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stevielicks.bsky.social
Nicole Frankenstein
@stevielicks.bsky.social
350 followers 250 following 510 posts
She’s a disability caregiving, native gardening, theater loving, science learning, potty joking, begrudging non-profit founder with a heart of California Gold 🍊
Posts Replies Media Videos
Reposted by Nicole Frankenstein
bubbaprog.xyz
you need to see the solo breakdown https://youtu.be/lhfwmH6Q5yA?t=253
January 17, 2026 at 4:48 PM
stevielicks.bsky.social
Christmas Rainbow over Monterey Bay. 🌈
Landscape photo of the Monterey Dunes in the foreground, and a moody, stormy sea in the back. A small rainbow dips into the horizon in the far distance.
December 25, 2025 at 4:43 PM
stevielicks.bsky.social
Look at this rad job opening for an Endowed Chair in Translational Research at the UC Davis MIND Institute.
#Research
#jobopening
recruit.ucdavis.edu/JPF07378
Robert E. Chason Endowed Chair in Translational Research, MIND Institute
University of California, Davis is hiring. Apply now!
recruit.ucdavis.edu
December 18, 2025 at 4:52 AM
stevielicks.bsky.social
Congratulations to the patient advocacy groups who made this happen.
#raredisease
#advocacy
December 17, 2025 at 3:04 AM
stevielicks.bsky.social
Rare Birds Foundation is raising $2100 to give 3 parent caregivers a break! Can you help?
givebutter.com/G8KvAp
December 2, 2025 at 6:49 PM
stevielicks.bsky.social
I’m a dues paying member of my labor union, United Domestic Workers. ✨
#union
#udw
November 6, 2025 at 5:13 PM
stevielicks.bsky.social
A thrilling new hypothesis describing how exactly SAICAr destroys brain cells in #ADSLDeficiency Thanks to Dr Manoj Pandey for this excellent work.
Rediscovering ADSLD, Recording 6, Dr. Manoj Pandey
Rediscovering ADSLD, Dr Manoj K PandeyDr. Pandey discusses how genetic enzyme deficiencies can act as critical drivers of complement activation and inflammation in distinct metabolic disorders. In G...
www.rarebirdsfoundation.org
November 4, 2025 at 6:14 PM
stevielicks.bsky.social
Dr. Sylvia Sanguer shares a new paper on their #clinicaltrial of Allopurinol to treat #ADSLDeficiency
Rediscovering ADSLD, Recording 3, Dr. Sylvia Sanguer
Rediscovering ADSLD, Dr. Sylvia SanguerDr. Sanguer presents findings from a study on the treatment of ADSL Deficiency with Allopurinol, highlighting improvements in younger and less severely impacted ...
www.rarebirdsfoundation.org
October 29, 2025 at 10:56 PM
stevielicks.bsky.social
A conversation with Natalie K Watson, mom to late Rare Birds William and Hamish and author of Bigger Than My Body, a memoir about loving and losing both of her boys to #ADSLDeficiency

#inbornerrorsofmetabolism
#grief
#childloss
Rediscovering ADSLD, Recording 2, A Conversation with Natalie K. Watson
Rediscovering ADSLD, Natalie K WatsonNatalie Watson shares her experience as a Rare Bird mom from Australia in a discussion about loving, losing and honoring the legacy of her late sons, William and ...
www.rarebirdsfoundation.org
October 28, 2025 at 11:13 PM
stevielicks.bsky.social
16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
Rediscovering ADSLD, Nicole Lytle
YouTube video by Rare Birds Foundation for ADSL Deficiency
youtu.be
October 27, 2025 at 11:59 PM
stevielicks.bsky.social
Are taxes going to be pro-rated for Americans this year? We shouldn’t be taxed for the days our government abandoned its duty to the people IMO
October 20, 2025 at 2:30 PM
stevielicks.bsky.social
Looked like #McConnell fell today because he was too embarrassed to use his mobility aid or accept the arm of his aide. That’s #ableism folks!
October 17, 2025 at 9:55 PM
stevielicks.bsky.social
On October 15th 2025, Rare Birds Foundation hosted our 2nd annual Research Symposium for ADSL Deficiency. I’m blown away by the progress of the past year and excited for what it means for people living with ADSLD.
A Flyer for the Symposium titled “Rediscovering ADSLD”. A collage shows pictures of 40 of the 200 known individuals affected by the disorder, and there are details to join the event, which has since passed.
October 17, 2025 at 4:24 PM
stevielicks.bsky.social
Allopurinol in young children with Adenylosuccinate Lyase Deficiency Disorder (ADSLD) improves behavior and decreases hyperactivity, but does not affect seizures. Study took place in France, 8 patient cohort, no effect on young adults. Thanks to @jimd-editors.bsky.social for this stellar resource
Infographic with study design, cohort size, Well- Tolerated Dosing (maximum 400mg/day for a child, 900 mg/day) and Results.
October 9, 2025 at 5:47 PM
stevielicks.bsky.social
Our families insurance premium is increasing 12.7% this year. How much of that increase do you think the employer will cover?
September 26, 2025 at 3:46 AM
stevielicks.bsky.social
White poster with all blue graphics reads “vote yes on prop 50 California.” The Golden Gate Bridge, a Mission Bell tower, a Joshua Tree, Poppies and a wave are all shown in the same two shades of dark and light denim blue.
September 10, 2025 at 12:26 AM
stevielicks.bsky.social
ADSL Deficiency is a metabolic disorder AND a mitochondrial disorder. Damn dude…

#adsldeficiency
#mitochondria
#raredisease
#purine
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
Bordi et al. identify mitochondrial dysfunction and ERK2/AKT impairment as hallmarks of ADSL deficiency. Mitochondrial defects correlate with disease severity and are partially rescued by ERK2-CA over...
www.cell.com
September 9, 2025 at 3:52 AM
stevielicks.bsky.social
I’m at a conference in my pajamas today! Attending Global Genes and Boston Children’s Hospital Rare Drug Development Symposium to learn the latest on how I can D.A.R.E. to get my kids on drugs.
#ADSLDeficiency
#raredisease
#drugdevelopment
A sleepy white woman with an open mouthed smile sits with her laptop open to the Conference Zoom. The laptop screen shows the “Rare Drug Development Roadmap”. Her kitchen table is a mess in a way that says “Children live here.”
September 3, 2025 at 5:27 PM
stevielicks.bsky.social
Hot and fresh from the oven! New paper on #ADSLDeficiency

#complementpathway
#genetic
#metabolic
#enzyme
Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder
Adenylosuccinate lyase deficiency disorder (ADSLDD) is an ultra-rare autosomal recessive metabolic condition that leads to severe neurological impairm…
www.sciencedirect.com
August 26, 2025 at 3:46 PM
stevielicks.bsky.social
Just telling myself a little brain story where a person commits a crime and is tried in court and the foundation of their defense is “If the President does it, it must not be illegal.”
August 21, 2025 at 3:20 AM
stevielicks.bsky.social
I am a mother of disabled children.
I am a teacher, a nurse, a weight-lifter, a pharmacist, a therapist, a neurologist, a researcher, a bitch, a Karen, a super-mom, a president, a failure, an inspiration, a tragedy, a voice of the voiceless.
I am America.
August 20, 2025 at 3:22 AM
stevielicks.bsky.social
I created a resource for siblings and friends of people with ADSL Deficiency to understand the basics of the disorder. Turns out, it’s really helpful for adults too! #ADSLDeficiency
#raredisease
#metabolism
#science
Let’s explain ADSL Deficiency to a Kid. An educational resource from Rare Birds Foundation for ADSLD. Imagine your body is like a busy restaurant. In the kitchen, there are workers called “enzymes” that chop food into small bits to make new, tasty dishes. Like chefs! One of these enzymes is named Adenylosuccinate Lyase, or Al for short. There’s just one problem. When a person had ADSL Deficiency, it’s like Al the enzyme does all of that chopping with a broken arm! This makes Al work very slowly. Not only does unchopped food pile up, but… The customers are sooo hungry! Imagine the customers are a person’s brain and muscles, and when they don’t have enough food to eat from the restaurant, they lose energy and can’t do their work very well.
August 18, 2025 at 7:22 PM
Reposted by Nicole Frankenstein
elizabethjacobs.bsky.social
www.defendpublichealth.org/press-releas...
Defend Public Health Releases Alternative to RFK Jr.’s Fake “MAHA” Agenda | Defend Public Health
With the public release of Health and Human Services Secretary Robert F. Kennedy Jr.’s “MAHA Strategy” delayed and because his May 2025 “Make America Healthy Again” report fundamentally mischaracteriz...
www.defendpublichealth.org
August 13, 2025 at 1:55 PM
stevielicks.bsky.social
New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪
#adsldeficiency
#neanderthal
#science
Tracing brain chemistry across humanity’s family tree
Small changes to an enzyme suggest how modern humans differ from Neanderthals and Denisovans in biochemistry and behavior.
www.oist.jp
August 7, 2025 at 9:15 PM
stevielicks.bsky.social
I recently went on a Disability Moms adventure retreat with 50 badass women. Someone hacked a bunch of our credit cards. They have no idea who they’re dealing with… we solved that shit in 20 minutes.
August 2, 2025 at 7:07 PM