On October 16, 2024 Rare Birds Foundation brought together presentations from 5 pre-eminent scientists in the field of ADSL Deficiency and Rare Disease Research and Treatment (and one Mom) for "Spark Curiosity" - our inaugural Research Symposium. Our goal was to come together and share the latest research and what is coming in the next few years in order to accelerate treatments and cures for the 155 people living with ADSLD worldwide.
We talked about dancing worms, fruit flies that couldn't fly, serendipitous meetings that led to a rare disease treatment, stories of Homecoming dances, and prolonged pediatric hospital stays. We talked about mitochondria and confusing outcomes in trials that illuminate how little we still understand about the role that the ADSL enzyme plays in human metabolism. And we talked about how we can improve diagnostics and patient outcomes through Universal Newborn Screening.
We talked about our kids. Who they are and what we want for them.
I talked about my 'wildest dream' treatment for the group.
Whatever form it comes in, I want it to be:
Safe - It cannot cause more harm than good
Effective - It should correct at least one of the top concerns of families and patients
Epilepsy, Movement Disorder, Communication, Sleep Disturbance
Fast - We lose several children each year to complications from ADSLD. Can symptom relief be a reality in 6 to 8 months? A treatment in 2 to 3 years?
Free - I know! But...I said it was a wild dream! Can it be free to develop? Free to families?
Fair - Will it be available in all countries? Will it be a real possibility for at least 75% of patients including older populations? Will it treat all of the known variants?
I also talked about a Newly Described Symptom of ADSL Deficiency - A Metabolic Stroke has been documented in a 2 year old boy with ADSLD, the first known in the disorder. My closing question to the group was: if other metabolic disorders know of dietary changes, supplementation, and medications and treatments that can prevent these strokes, can ADSLD have those protocols as well? And if so, can those protocols improve daily life as well?
I don't know the answer to that question. After all, we aimed to 'Spark Curiosity" during this research symposium. What I do know is that ADSL Deficiency is even more complex than I realized, and I already knew it was extremely complicated. While this was disheartening, I am comforted to know that this incredible group of folks came together to assert that it was worth finding out more! I'm not the only one on the case, thank goodness, and the hope is that we are fostering relationships and collaborations that will benefit our children and future kids who are diagnosed with the disorder.
Now, we will continue these conversations and develop a 2 Year Strategic Research Plan and Budget.
The hope is in 2025 Rare Birds Foundation can focus on family support initiatives including Respite Retreat Grants and a Bereavement Fund. Possibly even a family conference or gathering!
The future is bright for Rare Birds Foundation and those living with disorders of Purine Metabolism, like ADSL Deficiency!
Thank you to Dr. Wendy Hanna-Rose, Dr. Caleb Bupp, Dr. Andre Bachmann, Dr. Marie Zikanova, Dr. Sarah Elsea, and Dr. Matteo Bordi and to the team members that supported the work being presented. Thank you especially to the families who shared their Rare Birds with us in photos, words, or data.
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