Stories – CSNK2A1 Foundation

We Aren’t Alone: What it means to receive a diagnosis

April 5, 2020April 5, 2020Jennifer SillsLeave a comment

Written by an OCNDS parent My husband and I are parents to two (2) amazing children. Our daughter was diagnosed with OCNDS at the end of October 2019. We have been searching for a diagnosis for her symptoms for 13 1/2 years. Throughout the years, we took advantage of whatever the latest genetic testing...

Celebrating Rare Disease Day in the Rio Grande Valley, Texas, USA

March 16, 2020March 16, 2020Jennifer SillsLeave a comment

by Erica Lee Trevino “My son, Jordan is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own...

The Importance of Raising Awareness and Its Effect on Social Opportunity by Jacquie Lopez

March 11, 2020March 11, 2020Jennifer SillsLeave a comment

Amanda (at right) graduating with her proud sister, Madie, by her side. by Jacquie Lopez “3 weeks ago my eldest daughter, Amanda, had a job interview at Inspire Me Bracelets. Her sister Madie just wanted to go with her to the interview. Amanda didn’t want to tell her no and hurt Madie’s feelings. Even...

Offering Timo The Best Future by Myrthe Dolstra

March 7, 2020March 11, 2020Jennifer SillsLeave a comment

By Myrthe Dolstra Our Timo was born on 11/22/2016, I was exactly 37 weeks pregnant. It was a tiny man with long blond hairs. It was a lot smaller and lighter than expected, but we were not worried at the time. We were in love with our little man. After 6 months, it started...

“We Had No Idea” by Amber Reynolds

March 6, 2020March 6, 2020Jennifer Sills1 Comment

We Had No Idea Rare Disease Day Reflection from a Rare Warrior Mama, Amber Reynolds: When Harper was born we had no idea about genetic diseases, developmental disabilities, and that sometimes “healthy” babies have underlying problems that show up well after birth. We had no idea that 9 months later our lives would be...

I Challenge You

March 4, 2019March 4, 2019Jennifer SillsLeave a comment

by Melissa Burnham Today is Rare disease day!!! After almost 7 years, Belle was finally diagnosed with a rare, newly founded, genetic disease called OKUR-CHUNG Neurodevelopmental syndrome ( Named after the two Scientists who discovered it.) We are so grateful for answers, and the sweet community we have gained. I thought I’d give a...

Reflections on Rare Disease Day

March 3, 2019March 4, 2019Jennifer SillsLeave a comment

by Amber Reynolds As today is Rare Disease day, I wanted to share my sweet Harper’s story again. To honor this day I want to highlight her very rare syndrome, Okur-Chung Neurodevelopmental Syndrome. Many of you are aware of our journey and trying to find a diagnosis for Harper. We knew within Harper’s first...

OCNDS journey in Italy

February 22, 2019December 30, 2019Jennifer SillsLeave a comment

Samuel’s mother has shared their journey in Italy. The English translation is below. The original Italian version follows. We are grateful to our community who submitted stories leading up to Rare Disease Day. To date, one family has been diagnosed with Okur-Chung Neurodevelopmental Syndrome in Italy. Please read this raw, emotional and honest piece...

A Piece of a Life’s Journey

February 5, 2019February 5, 2019Jennifer Sills2 Comments

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

September 21, 2018September 22, 2018Jennifer Sills1 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...