Created the first-ever global patient registry with patient information for clinical-trial readiness.
Presently 550 children have been diagnosed – Estimated to be 500,000+ based on incidence rates.
Galvanized and inspired a global network of renowned researchers, enlightened doctors and credible medical centers. Funded top research investigators focused on the most promising outcomes and breakthrough treatments.
Designed systems to promote Open Science, accelerate knowledge transfer; and incentivize collaboration—all core to our value system.
Facilitated international conferences, monthly roundtables and Share What Works programs with scientific researchers and medical clinicians. This has allowed families to understand symptoms and prognosis for better care and invaluable coping information.
Creating standards of care for treating 8p (largely unknown about by physicians and healthcare providers) by way of funding a Neurogenetic Multidisciplinary Clinic at Children’s Hospital of Colorado to serve as the model for a Center of Excellence.
I’m stepping for the community. Virtually linking arms with the family, friends, and caregivers from around the world who understand. It reminds me that we are all not alone. We’re stepping together for our 8p heroes.
At age 4, after many hours of therapy and a spinal surgery, my niece walked for the first time. At almost six, she has learned to get into a standing position without assistance. She is resilient, like her 8p hero friends, who work hard every single day. Their determination is why I will be taking 8,000 steps.
Attending the 8p conference was a life changer for us. Meeting fellow families felt like we found our extended family. I left the conference better educated and feeling empowered for our 8p hero’s growth. I can’t wait for the 2021 conference and seeing our 8p family again.
It is amazing how you can meet a complete stranger, and yet, connect with them on such a personal level. I left the conference truly inspired by all the wonderful families we had met. I wanted to do more and contribute to this empowering community of individuals.