IDream For A Cure

Kaylee was born in 2013 perfectly healthy and full of the most amazing spirit and personality. She was a free-spirited child that loved nature, animals, the outdoors and all things enchanted. Kaylee started experiencing unexplained falling at age 4. By age 6, she was having trouble walking. The Bland’s received Kaylee’s diagnosis of an IRF2BPL mutation on February 18, 2020. Kaylee lost her ability to run and most of her ability to walk as she turned 7 years old. At age 8, she became G-tube dependent as she lost the ability to eat. Kaylee’s mother, Tanya, said the most devastating loss was completely losing her ability to talk by the age of 10. Now at 11, she is non-ambulatory, nonverbal, struggles with scoliosis, loss of muscle tone, weakened bones, weakened respiratory function, seizures and vision problems. Despite the challenges she faces, when you get to know Kaylee you see a beautiful warrior tween with that same love of all things nature, animals and enchantment. She has a hilarious sense of humor, a wild love of music and has a zest for life that is unmatched. She touches the soul of every person that meets her, and she is the bravest fighter her family has ever known! Tanya says, “We pray every day for a miracle so that this disease doesn't take any more of our amazing Kaylee.”

You can learn more about Kaylee and follow her story at Kaylee’s Krusade.

“Grateful to announce that is funding our work on IRF2BPL / NEDAMSS, a critical gene in brain development and health.” Dr. Paul Marcogliese

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A publication titled “IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA” was published in Movement Disorders on September 3, 2024. The lead author is Dr Venkateswaran from the Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA Background Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child w...

Dr. Pawel’s research.. “Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues”

Frontiers | Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues Recently a broad range of phenotypic abnormalities related to the neurodevelopmental and neurodegenerative disorder NEDAMSS (Neurodevelopmental Disorder with...

https://www.simonssearchlight.org/2023/07/19/leading-the-way-an-interview-with-caroline-cheung/

Simons Searchlight | Leading the Way: An Interview with Caroline Cheung Caroline shows how community can accelerate answers by participating in documentary filmmaking.