Understanding
Okur-Chung Neurodevelopmental Syndrome
6 Days In The Life Of Our Foundation & Our Quest For Answers
“Hope cannot be a passive concept. It’s a choice and a force; hoping for something takes more than casting out a wish to the universe and waiting for it to occur. Hope should inspire action.” – Dr. David Fajgenbaum, Chasing My Cure
Every day we work tirelessly behind the scenes to unlock the mysteries of OCNDS, connect families and inspire action. Here is a snap shot of six December days in life of the Foundation.
Miles Traveled : 17,218 miles Families Met : 10 Modes of transport : plane, train, rented car, cab, tram and London’s tube Countries visited : France, Netherlands, UK (and Belgium) Survived : Largest public transportation strike ever in France & torrential rain in the Netherlands Research institutions visited : 2 New patients diagnosed in US : 2 Stops at Wagamama : 2 Types of Stamppot tried : 3 Tears shed from meaningful moments : too many to count Fueled by : meeting patients and their amazing families, love, home cooked meals, and lots of coffee Topics of con versations :
Nothing can keep us from finding answers and connecting families. We are continuously grateful that families open their homes and their hearts to us. We are stronger together! This trip inspired lots of action! One day at a time we are turning hope into action. We are stronger together!
Miles Traveled : 17,218 miles Families Met : 10 Modes of transport : plane, train, rented car, cab, tram and London’s tube Countries visited : France, Netherlands, UK (and Belgium) Survived : Largest public transportation strike ever in France & torrential rain in the Netherlands Research institutions visited : 2 New patients diagnosed in US : 2 Stops at Wagamama : 2 Types of Stamppot tried : 3 Tears shed from meaningful moments : too many to count Fueled by : meeting patients and their amazing families, love, home cooked meals, and lots of coffee Topics of con versations :
- Simons Searchlight Natural History Study and how to participate,
- Update on our biochemistry study lead by Dr. Heike Rebholz,
- How CK2 works,
- Website translation,
- OCNDS Expertise Centers in the Netherlands,
- OCNDS Resource web pages for each country,
- Interventions that are helping,
- Disabled bathroom keys in the UK,
- Possibility of an international meeting held in Europe,
- Collaboration with the CSNK2B group,
- How our kids are best supported in the school environment,
- The importance of knowing the exact mutation or change,
- TGen’s research,
- Making reagents for research
- How science is catching up and why the time is now,
- Difficulties of getting a diagnosis,
- Difficulties of finding and connecting with new patients,
- Identifying points of contact in each country,
- Cultivating relationships with doctors and researchers who will champion OCNDS,
- Importance of ICD-10 codes
- Fundraising and awareness.
Nothing can keep us from finding answers and connecting families. We are continuously grateful that families open their homes and their hearts to us. We are stronger together! This trip inspired lots of action! One day at a time we are turning hope into action. We are stronger together!