A non-for-profit organization created in 2009 by Yolaine Dupont as a legacy for her daughter Ella Dupont Bedassie, PVNH Support & Awareness connects families together and educates patients, family members and medical professionals about Periventricular Nodular Heterotopia and other neuronal heterotopia disorders. Our goals are to positively impact the lives of affected patients, to open Centres of Excellence for PVNH Care, to fund research studies to better manage symptoms, find new genes at cause, and hopefully one day, finding a cure.
PVNH Support & Awareness currently provides support to more than 300 families who have a neuronal heterotopia diagnosis, in 27 countries. All are looking for better care and treatment options to live life to the fullest. In October 2016, Dupont will host the third World PVNH Disorder Conference in Vancouver, BC, where specialists from the U.K., USA, Germany, Netherlands and Canada will meet with families.
WHAT IS PVNH?
Periventricular nodular heterotopia (PVNH) is one of those rare disorders you may not know you have. It is a rare neuronal migration disorder characterized by the presence of nodules of neurons (gray matter) in the wrong spot in the brain. It comes in different forms and often affects multiple organs.
Seizures occur in up to 90% of patients, and learning difficulties are not uncommon. Some individuals have profound motor, cognitive and developmental delays and some have connective tissue problems which can affect joints and blood vessels and lead to gastrointestinal, pulmonary and heart complications, among other issues. A brain MRI investigation usually confirms the diagnosis. There is no cure to PVNH; only symptoms can be treated. If unrecognized and untreated, these problems can lead to death.