UDN PEER created a document entitled “Questions to Ask” that aims to help individuals formulate the next steps of their undiagnosed journey and communicate with their healthcare team. We have different sections based on whether a genetic diagnosis was/was not given.Some example questions are:Will they...
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....
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...
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...
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...
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...
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...
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...
/*! elementor - v3.11.1 - 15-02-2023 */ .elementor-widget-image{text-align:center}.elementor-widget-image a{display:inline-block}.elementor-widget-image a img[src$=".svg"]{width:48px}.elementor-widget-image img{vertical-align:middle;display:inline-block} From the age of 12, our son Mitchell lived each day knowing that an unknown disease was slowly robbing him of his hearing, leg movement and sensation, and his overall independence. He was receiving care...