UDNF |

26 Jan MyGene2

Posted at 16:23h in Resources

By Dr. Chong and Dr. BamshadAfter you’ve been evaluated by the UDN and received a genetic diagnosis or a candidate gene has been found, what comes next? Or, if a genetic diagnosis couldn’t be made, what can you do to increase your chance of eventually...

26 Jan Simons Searchlight

Posted at 16:22h in Resources

Simons Searchlight is a research registry for gene and Copy Number Variants that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders.By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders....

26 Jan RareConnect

Posted at 16:21h in Resources

If you are newly diagnosed, RareConnect is a patient-led platform that can help you find a community specific to your disease. Through this resource, you can share symptoms, stories, and treatment experiences with others. If you can’t find your disease community on their platform, you...

25 Jan Sanam Kadhoda

Posted at 23:45h in Stories

Eli is a very energetic and playful kid. He loves Superheroes! His favorite characters are the PJ Masks, and he loves to run around the house imitating them. Eli is the most loving and pure child. He LOVES hugs and kisses and asks for them...

25 Jan Sarah Marshall

Posted at 23:44h in Stories

Phoebe, now nearly 13 years old, was first evaluated by the UDN in April 2017. It’s been four years and, like for so many others, information has been slow in coming. The timeline is blurred in my memory in a way that is likely familiar...

25 Jan Meghan Halley

Posted at 23:42h in Stories

Posted originally on Once Upon a Gene. Written by Effie Parks.I met Meghan Halley on the NORD Living Rare Living Stronger planning committee. She co-chairs the patient and family support group for the Undiagnosed Diseases Network. She's a Stanford research scholar and a mom to her...

24 Jan Kelley Coleman

Posted at 05:12h in Stories

Finding Connection While UndiagnosedHaving an undiagnosed child with a disability leaves our family with many unanswered questions. What doctors specialize in our child’s care? How do we learn more about his condition? How do we map his future when there are no other maps for...

24 Jan Ingrid Kovitch

Posted at 05:11h in Stories

Like so many in the Rare and Undiagnosed Disease community, my story begins with… surprise. For some it was an unexpected pregnancy complication. For others, a missed milestone, some insidious decline, or a dramatic medical crisis. And in the blink of an eye our hopes...

24 Jan Michele Herndon