Jonah and Flora were diagnosed with ADSLD in 2019 and hearing there was no treatment or cure for this progressive, neurodegenerative disorder was one of the hardest moments of our lives. Soon after, Justin and I joined an ADSLD Facebook group where we met many people with similar stories. Families were told to go home and enjoy the time they had with their children.

With developments in science, and an explosion of resources in the Rare Disease Advocacy space, our family feels hope for the first time that we may be able to find a drug treatment to slow the progression of this horrible disorder that threatens these children's lives every day.

Through a collaboration with Perlara, we have identified a potential drug treatment called Disulfiram through a process called "Drug Repurposing." Here's how it works:

Perlara creates a yeast strain that can survive with ADSL Deficiency. Then they test a "library" of FDA approved drugs and compounds and see if any of them resolve the disease in the yeast. We found Disulfiram through one library of drugs, but the project was more difficult than first expected, so money ran out to test the second larger library. While it is exciting to have a potential treatment, our group would like to know all potential "hits" in the screen in case Disulfiram isn't well tolerated, or simply doesn't work. It has never been used on kids.

Can you please help this group of 128 patients (mostly children) around the globe on their path to a treatment in 2024?

Your contribution means the world, even if it's a share with a heartfelt note. <3