Nicole Frankenstein
@stevielicks.bsky.social
She’s a disability caregiving, native plant loving, science learning, potty joking gal with a heart of California Gold. Translating patient and caregiver experience to clinical outcomes. 🍊 Disorders of Purine Metabolism.
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!
Czech Centre for Phenogenomics (CCP)@czphenogenomics.bsky.social · last mo.💙 #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. 🧬
💙 #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...
Risk of Cardiovascular Disease in Parents of Children Diagnosed With Neurodevelopmental Disorders
This cohort study examines the association between having children with common neurodevelopmental disorders and parental risk of cardiovascular disease.
jamanetwork.com
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?
Flora and I spoke at #grandrounds for the Undiagnosed Disease Program during our visit to the NIH alongside Dr Bill Gahl. Educating clinicians about #ADSLDeficiency and the work of Rare Birds Foundation was deeply meaningful, especially with one of my own Rare Birds at my side.
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.
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...
Risk of Cardiovascular Disease in Parents of Children Diagnosed With Neurodevelopmental Disorders
This cohort study examines the association between having children with common neurodevelopmental disorders and parental risk of cardiovascular disease.
jamanetwork.com
3 Ways To Turn Overwhelm Into A Productivity Tool, By A Psychologist
3 Ways To Turn Overwhelm Into A Productivity Tool, By A Psychologist
We’ve been taught to immediately cut off from the feeling of being overwhelmed. The science, however, might suggest that it’s asking you to lean in.
forbes.com
I 💜 JIMD.
Journal of Inherited Metabolic Disease@jimd-editors.bsky.social · 8mo agoPregnancy outcomes in Gaucher disease: real-world data from the ICGG Registry. 110 imiglucerase-treated pregnancies → 88.5% live births, no stillbirths, miscarriage risk similar to the general population. 🔗 doi.org/10.1002/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?
