Christmas Rainbow over Monterey Bay. 🌈

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

Congratulations to the patient advocacy groups who made this happen. #raredisease #advocacy

Rare Birds Foundation is raising $2100 to give 3 parent caregivers a break! Can you help? givebutter.com/G8KvAp

I’m a dues paying member of my labor union, United Domestic Workers. ✨ #union #udw

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

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

16 minute presentation reviewing a year of Rare Birds Foundation. #inbornerrorsofmetabolism #purines #ADSLDeficiency

**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.

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!

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

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

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

Hot and fresh from the oven! New paper on #ADSLDeficiency #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.”

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 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

New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪 #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.

“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

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 🍊

Feeling weird being on a plane with a dude wearing a vest that says “J6 Insurrectionist.” Never thought I’d fly with a proud domestic terrorist.

@zebrafishrock.bsky.social Hi! I’m Nicole and I have a hookup for ADSL Deficient Zebrafish for use in research. #adenylosuccinatelyasedeficiency

Congrats to Rare Birds Scientific Advisor Marie Zikánová et al for the recent identification of a newly described disorder in the purine biosynthesis pathway, PFAS Deficiency. onlinelibrary.wiley.com/doi/10.1002/...

Urea Cycle Disorders are closely related to #ADSLDeficiency so we are feeling a lot of hope from this advancement. So happy for this family. apnews.com/article/cris...

Bohemian Rhapsody is to Musical Performances as the Baked Alaska is to Desserts.

I read this paper. Think it means my ADSL Deficient kids might be…delicious? www.sciencedirect.com/science/arti...

We all used to watch the same commercials hundreds or thousand of times. Justin and I are reciting the Begging Strips commercial in unison over dinner

The Algorithm Method™️

It’s baffling even to me how much I despise ketchup

My kids go to a medical daycare with nursing staff on site. Telehealth cannot do what the nurses in these facilities do, like tend a trach or feeding tube, administer meds, or monitor the kids they come to *know* for changes in health. We refuse to accept worse care for vulnerable Americans

My son is 3 days seizure free!!! This hasn’t happened in over 2 years. 🌈 #epilepsy #seizuressuck

I’m giving Kiley a ring a ding right now!

Posting to read later

Rare Disease day at the @nih has been cancelled @altnih4science.bsky.social

Learned this week that my local rep Kevin Kiley introduced a bill to outlaw “Confucius classrooms” none of which are in his district. He greatly exaggerated the numbers of these classroom in his address. Get a grip, dude m.youtube.com/watch?v=pny_...

Can we circle back on why insurance pays for Viagra? I’ve never met a medically necessary boner

Happy Valentine’s Day ♥️

This is the worst kind of traitor. Boo hiss

Universal Design is the way of the future. I think even Elon would approve 🍊

DEI is changing tables in men’s restrooms. Because all parents can change diapers.