Nicole Frankenstein

@stevielicks.bsky.social

1101 Followers 316 Following

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.

Onstage at the Lipsett Auditorium at NIH, a mom sits beside her daughter who is in a wheelchair. They are being asked a question by Dr Bill Gahl with a large screen behind them that reads “Adenylosuccinate Lyase Deficiency”. Special thanks to Nurse Sandy Chow and To Dr. Oleg Shchelochkov who gets photo credit 💜
A team of doctors, scientists, nurses, helpers and parents surround Jonah and Flora, 2 kids in wheelchairs, in the atrium of the Clinical Center at NIH
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.
A white woman drives her ADA van and chats while wearing green cat-eye glasses.
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.
Infographic with study design, cohort size, Well- Tolerated Dosing (maximum 400mg/day for a child, 900 mg/day) and Results.
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.”
Less energy can make some people with ADSL Deficiency have… 1. Trouble using their voice and eyes 2. Seizures 3. Autism 4. A wheelchair or other aid to help them move So can a doctor fix Al’s broken arm?
Let’s explain ADSL Deficiency to a Kid. An educational resource from Rare Birds Foundation for ADSLD.
A white family of four poses for a photo with a beach and cloudy sky in the background. The children in the foreground are both in wheelchairs, mom and dad are smiling. They all wear sunglasses.
A white, 8 year old boy is pictured in a gait trainer watching Benson Boone performing Bohemian Rhapsody at Coachella
Several brown California Buckeye seeds in a black plastic pot. One seed sprouted several weeks ago and has put on more large, bright green, palmate leaves.
4 reddish brown California Buckwheat seeds on top of the soil. Only one has sprouted. Its bright green palmate leaves are beginning to open