stories Archives - CSNK2A1 Foundation

A Piece of a Life’s Journey

5 February 2019February 5, 2019Jennifer SillsLeave a comment

Arthur’s mother has shared her story from France. Below is an English translation. The original French version follows. Since the day Arthur was born I felt he was in pain and that something was wrong. We already had a two-year-old daughter when he was born. My baby was in pain. He cried a lot...

KERI Blog Post Thomas in his favorite room, the Rainbow Room

An OCNDS Parent’s Experience at an Intensive Therapy Program at the Star Institute for Sensory Processing

21 September 2018September 22, 2018Jennifer SillsLeave a comment

By Keri Ninness As we began to really prepare for Thomas to go to Public school for kindergarten, we asked his therapists where they saw his biggest areas of need. We then assessed where in our home his functioning was most impaired. While Thomas doesn’t have a full on Sensory Processing Disorder diagnosis, he...

Reflections From an OCNDS Parent on Their Family’s Journey to Diagnosis

13 September 2018September 22, 2018Jennifer SillsLeave a comment

By Rhiannon Cramer I wanted to take a moment to say how thankful I am for the OCNDS community and to tell a little of our story and journey. Our daughter’s problems were evident by the second week of her life. This turned our lives into a journey that has been a long difficult...

Save the Date for Rare Disease Day February 28, 2019

8 November 2018February 5, 2019Jennifer SillsLeave a comment

Come celebrate with The Sills Family & WHAT? Rare Disease Day is to raise awareness for rare diseases and their impact on the lives of patients and families. WHY? Our sweet Jules was diagnosed with a rare genetic disorder in 2016. 1 in 10 people are diagnosed with a rare disease. We all know...

2019 Drive for Diagnosis Golf Classic

21 October 2018February 5, 2019Jennifer Sills

To learn more about TGen visit www.tgen.org 2019 Drive for Diagnosis Golf Classic Sponsorship Package...

Final Thoughts on Our 1st CSNK2A1 Foundation Family Conference

17 September 2018September 22, 2018Jennifer SillsLeave a comment

We walked into the 1st CSNK2A1 Foundation Family Conference as strangers and we finished the weekend as lifelong friends. We now have friends (more like new family) that we can call on at anytime who will understand our excitement when our child hits a milestone, or will understand when its been a tough day...

My Reflection of Rare Disease Day 2018

11 July 2018September 22, 2018Jennifer Sills4 Comments

EVERY DAY I HOPE YOU FEEL LOVED, SEEN, ACCEPTED AND PART OF A COMMUNITY. This was the first time our family, together with our community, celebrated Rare Disease Day. We celebrated in honor of our daughter, Juliet, who has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”), an ultra rare genetic disorder. This celebration documented our huge shift...

2/28/18 is Rare Disease Day

28 February 2018September 17, 2018Jennifer SillsLeave a comment

2/28 is Rare Disease Day We are officially Friends of Rare Disease Day. We are having our first event to celebrate Rare Disease Day and bring awareness to OCNDS in California. ...

Our Journey to Diagnosis and Hope for the Future

28 February 2018July 11, 2018Jennifer Sills1 Comment

Learning and Advocacy for Our Children For parents of children with rare diseases, we are in a constant state of learning. We experience the joy of learning about this amazing new baby in our lives. We learn our child has differences from other children. We learn about those differences through a clinical diagnosis that...

Welcome!

21 February 2018July 11, 2018Jennifer SillsLeave a comment

Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has. Welcome! We found each other. FINALLY! Some of us have waited years for a diagnosis – a name to describe the condition that has affected our children, a name of a...