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...
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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...
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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...
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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...
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We are excited to announce our 2nd family and research conference. In collaboration with Simons Searchlight, we will have a joint family and research conference with 3 other patient organizations that present similarly to ours. When? Thursday, August 6th - Scientific Day for Researchers Friday, August 7th - 9th - Family Conference and Research...
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2018 YEAR IN REVIEW One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year! We started to fund a...
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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...
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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...
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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...
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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...
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