Nicole Frankenstein

Last week my family traveled to the #NIH to participate in medical research and receive care for #ADSLDeficiency. I am in awe. Grateful for science and NIH.

Was considering changing my voter registration to Independent. However I will now wait until I can vote for any other presidential primary candidate other than @gavinnewsom.bsky.social He is crapping the bed in this final stretch and not even Camille’s trolling can save him.

I was an invited speaker at this year’s CCP Phenogenomics Conference in Prague. My talk title was “Decoding patient voice when patients cannot speak: The caregiver role in therapeutic development for ADSL Deficiency”. #ccpphenogenomics

The CCP Phenogenomics Conference was a wonderful time of learning and collaborating. I am very glad to have met so many brilliant scientists doing this important work in genomics, mouse modeling, and rare disease. Looking forward to next time!

💙 #CCPConference2026 closed with a powerful patient-research session: SPATA5, Angelman syndrome & ADSL deficiency, bringing families, foundations & scientists together. The conference concluded with Kiran Musunuru on therapeutic gene editing. 🧬

I’m in my ancestral homeland for the first time: the airport in Frankfurt. A tiny, gorgeous mouse was in the ladies restroom in terminal A. I am home.

We identified the top 100 sprayers of the controversial weedkiller Roundup in California—a state that produces more than three-quarters of the nation’s fruits and nuts and nearly half of its vegetables. Check out our new searchable database to find out who’s at the top of the list. bit.ly/3SqKXDZ

The question isn’t ‘do kids with developmental epilepsies communicate?’ Rather it’s ‘how can WE listen and then connect with joy?’ Learn more here deepconnections.net/event/listen...

I’ve no idea how it happened, but ADSL Deficiency was added to the SSA Compassionate Allowance list. If it was one of you, thank you 💜

People that compare hated politicians to folks with intellectual disabilities are lazy and ableist. Interestingly, two reasons we tend to hate the hated politicians!

This is fore-edge painting: a scene hidden in a book's gilded edge, invisible until you fan the pages just right. Here it meets Tolkien's Lord of the Rings.

@frenchpurine.bsky.social Hello! I am a purine collaborator! My kids live with ADSL Deficiency and our organization Rare Birds Foundation works with an amazing group of researchers. Can we chat?

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

Parents of children with NueroDevelopmental Disorders are at increased risk for cardiovascular disease. jamanetwork.com/journals/jam...

Yesterday, Rare Birds Foundation awarded our first Caregiver Retreat Grants to 3 moms raising kids with ADSL Deficiency. Yesssss… #ADSLdeficiency #caregiver #purines

@frenchpurine.bsky.social Hello! I am a purine collaborator! My kids live with ADSL Deficiency and our organization Rare Birds Foundation works with an amazing group of researchers. Can we chat?

We’re halfway through our week at the #nih. It has been an incredible experience and I’m so thankful to American taxpayers for funding studies into complex pediatric disorders like #ADSLDeficiency

Parents of children with NueroDevelopmental Disorders are at increased risk for cardiovascular disease. jamanetwork.com/journals/jam...

Fine. Passports should be free then.

The chemical building blocks of DNA are present on asteroids!?

3 Ways To Turn Overwhelm Into A Productivity Tool, By A Psychologist

I 💜 JIMD.

Loved Mikaela Shiffrin being tipsy on prime time 🇺🇸 #espressomartini

Folks who read Wuthering Heights after seeing that movie will be soo sad.

What do they do to make Provolone cheese taste like vomit and why don’t they stop?

Quad God!!!

I hosted an ADSL Deficiency family meeting with Dr Oleg from the NIH today for Rare Birds Foundation. Rare Birds patients make up 33% of enrollees in the Natural History protocol, the largest patient group represented! It’s been hard work to get families enrolled and seeing that stat made me 🥹

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

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

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.

Our families insurance premium is increasing 12.7% this year. How much of that increase do you think the employer will cover?