Nicole Frankenstein
@stevielicks.bsky.social
She’s a disability caregiving, native gardening, theater loving, science learning, potty joking, begrudging non-profit founder with a heart of California Gold 🍊
November 6, 2025 at 5:13 PM
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
A thrilling new hypothesis describing how exactly SAICAr destroys brain cells in #ADSLDeficiency Thanks to Dr Manoj Pandey for this excellent work.
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
Dr. Sylvia Sanguer shares a new paper on their #clinicaltrial of Allopurinol to treat #ADSLDeficiency
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
#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
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
#inbornerrorsofmetabolism
#grief
#childloss
16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
#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
16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
Reposted by Nicole Frankenstein
**Two** constituent wins in the State Senate this morning.
My bill to establish a Silver Alerts system passed unanimously.
My bill to temporarily excuse family caretakers of a hospice patient or a child with a serious health condition from jury duty passed 34-2.
My bill to establish a Silver Alerts system passed unanimously.
My bill to temporarily excuse family caretakers of a hospice patient or a child with a serious health condition from jury duty passed 34-2.
October 21, 2025 at 4:11 PM
**Two** constituent wins in the State Senate this morning.
My bill to establish a Silver Alerts system passed unanimously.
My bill to temporarily excuse family caretakers of a hospice patient or a child with a serious health condition from jury duty passed 34-2.
My bill to establish a Silver Alerts system passed unanimously.
My bill to temporarily excuse family caretakers of a hospice patient or a child with a serious health condition from jury duty passed 34-2.
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
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
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
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!
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.
October 17, 2025 at 4:24 PM
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.
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
October 9, 2025 at 5:47 PM
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
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
Our families insurance premium is increasing 12.7% this year. How much of that increase do you think the employer will cover?
ADSL Deficiency is a metabolic disorder AND a mitochondrial disorder. Damn dude…
#adsldeficiency
#mitochondria
#raredisease
#purine
#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
ADSL Deficiency is a metabolic disorder AND a mitochondrial disorder. Damn dude…
#adsldeficiency
#mitochondria
#raredisease
#purine
#adsldeficiency
#mitochondria
#raredisease
#purine
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
#ADSLDeficiency
#raredisease
#drugdevelopment
September 3, 2025 at 5:27 PM
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
#ADSLDeficiency
#raredisease
#drugdevelopment
Hot and fresh from the oven! New paper on #ADSLDeficiency
#complementpathway
#genetic
#metabolic
#enzyme
#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
Hot and fresh from the oven! New paper on #ADSLDeficiency
#complementpathway
#genetic
#metabolic
#enzyme
#complementpathway
#genetic
#metabolic
#enzyme
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
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.”
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.
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
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.
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.
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
#raredisease
#metabolism
#science
August 18, 2025 at 7:22 PM
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
#raredisease
#metabolism
#science
Reposted by Nicole Frankenstein
New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪
#adsldeficiency
#neanderthal
#science
#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
New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪
#adsldeficiency
#neanderthal
#science
#adsldeficiency
#neanderthal
#science
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
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.
“This is interesting to the point of being spooky.” The opening line from an email from a researcher who collaborates with us at Rare Birds Foundation. Rigorous science 🤝 Mother’s Intuition
July 16, 2025 at 10:38 PM
“This is interesting to the point of being spooky.” The opening line from an email from a researcher who collaborates with us at Rare Birds Foundation. Rigorous science 🤝 Mother’s Intuition
Parents of children with rare diseases are charged with raising the child and also CURING THE DISEASE. What my brothers and sisters in arms are doing is nothing short of heroic. Thanks to my kids Jonah and Flora for showing me what ‘brave’ really is.
#ADSLDeficiency
#ADSLDeficiency
July 12, 2025 at 6:41 PM
Parents of children with rare diseases are charged with raising the child and also CURING THE DISEASE. What my brothers and sisters in arms are doing is nothing short of heroic. Thanks to my kids Jonah and Flora for showing me what ‘brave’ really is.
#ADSLDeficiency
#ADSLDeficiency
What in the Bed Bath and Beyond is going on at Round Table Pizza? $55 for an X Large pie means I’m gonna need a 20% off mailer to pull that off.
July 9, 2025 at 7:42 PM
What in the Bed Bath and Beyond is going on at Round Table Pizza? $55 for an X Large pie means I’m gonna need a 20% off mailer to pull that off.
Called Kevin Kiley today. I will never vote for a candidate that signs on to Medicaid cuts. For my disabled kids and all kids like them 🍊
July 2, 2025 at 8:12 PM
Called Kevin Kiley today. I will never vote for a candidate that signs on to Medicaid cuts. For my disabled kids and all kids like them 🍊