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

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

2/2

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

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

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

Found a bonus buckeye against the house. A critter must have tried to drag it off for a snack, but look at this lady surviving

California Buckeye sizing up nicely. Might plant it out tomorrow after all the rain this week. I don’t want a buckeye on my property so it’ll go out in the local greenbelt

My solo CA Buckwheat seedling this year, collected on a drive with my kids in October. First, the seeds de-husk, then send a finger-like protrusion into the soil and almost simultaneously send up the first green leaves. My favorite part-it’s summer deciduous. Perfectly adapted to survive a CA summer