Stories: Community Members Making An Impact
By Victoria Howard My sister was born on June 1st 2011 and was showing no signs of any delay up until 6 months of age when she had her first seizure. She got diagnosed with epilepsy before the age of 1 and then found out she had microcephaly. She can eat normal and claps...
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“Most parents thankfully don’t know what it is like staying up all night to make sure your child is still breathing while monitoring their heart rate. Or even having to make that choice to even give rescue medications to stop a medical event. The ever-present parental terror that exists on a daily basis.” By...
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by Keri Ninness Today is #rarediseaseday2021. I have a complicated relationship with this day. There are things a parent of a child with a rare disease is *supposed* to say. We should say we are grateful (we are) and that our child is hard working, resilient, persevering (dear heavens is he). We should say...
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by Rhiannon Cramer Days The sun rises up, the sun lowers down The child does not sleep The child breaths and that is our need The sun rises up again The physical therapist comes again The occupational therapist comes again The doctor appointments to be made again The sun is at midday The feeding...
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By Melanie Kretas / artwork by Ava Rare Disease Day Reflection I 💙RUFF💚someone rare! Rare comes in all different shapes and sizes, same with best friends! Ava loves the company of her two best friends, Hero and Ranger🐾She enjoys walking them, playing with them and feeding them. They make her laugh every single day!...
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by Aurélie Aujourd’hui est une journée de sensibilisation aux maladies génétiques rares.. Nous ne nous étions jusque là jamais réellement intéressés au sujet.. Nous ne savions pas à l’arrivée d Helio que nous vivrions un véritable combat avec et pour lui.. Un combat quotidien qui a démarré dès ses 9 mois avec des heures,...
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By Amber Reynolds As we started to learn more and more about Harper’s diagnosis, Okur-Chung Neurodevelopmental Syndrome, we started to understand that our precious nonverbal daughter, Harper, might never learn to speak. One of my saddest moments as a mom was thinking I may never hear my daughter tell me she loves me. Harper...
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By: Claire Whitehill “The future is a mystery, but as long as she is happy and healthy that is good enough.” Early days Kirsty was born 7 weeks early due to Strep B and spent the first 3 weeks in the Special Care Baby Unit with an NG tube. She went back into hospital...
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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...
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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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