By Elisabeth Mellinger From the day Matilda was born, I had a sense that something was different about her. As she grew, very slowly, I kept asking doctors about my concerns, but they would always push them aside with comments about how cute she was, and how she was just a late bloomer and...
Continue reading
by Amber Reynolds Mamas, always listen to your heart, your gut, your instinct. Since Harper was a couple months old, I knew something wasn’t quite right. People just said, she’s fine, she’s just a little behind, and to stop reading baby books. At her one year appointment, her pediatrician finally decided to send us...
Continue reading
Saturday, May 15th at 12pm PST (Check the time conversion for time in your area: https://www.thetimezoneconverter.com/) Kristen Didzoleit, an OCNDS parent & inaugural Parent Advisory Board (PAB) member, is leading an OCNDS Family Zoom Call for early intervention to entering school age children on May 15th at 3pm EST. A few PAB parents with...
Continue reading
Okur-Chung Neurodevelopmental Syndrome-linked CK2x variants have reduced kinase activity Link to Paper: https://rdcu.be/cjYNS Authors: Dominguez I, Cruz-Gamero JM, Corasolla V, Dacher N, Rangasamy S, Urbani A, Narayanan V, and Rebholz H Research Explained By: Dr. Heike Rebholz Research Explained Summary: All patients diagnosed with OCNDS share one thing in common: they have one change...
Continue reading
Join us on Sunday, March 14th at 12:00pm EASTERN to speak to Jennifer Tjernagel, the Simons Searchlight Senior Project Manager, about the CSNK2A1/OCNDS research opportunity. This Q and A will be recorded. Register in advance for this Q and A here. After registering, you will receive a confirmation email containing information about joining the...
Continue reading
Last week our President, Jennifer Sills, shared her daughter Jules’ story at the California Rare Disease Caucus at which assembly members were present. Thank you to CAL RARE and Angela Ramirez Holmes for giving her the opportunity to share how COVID is affecting those with rare disease. The hearing video is on their website:...
Continue reading
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...
Continue reading
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...
Continue reading
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...
Continue reading
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...
Continue reading