We are helping our partner at the Research Institute of McGill University Health Centre recruit PVNH-affected children and adults who have / have had seizures to study the phenotypic spectrum of epilespy in PVNH. Details and contact info to participate can be found on our Research page.
The #PaintItPinkAndYellow campaign on August 7th, celebrating the 9th edition of
was once again a true success, thanks to all our Illumination Partners, PVNH, GMH and SBH Families and all our friends. Thank you to each of you!
Click here for the complete list of
WORLD PVNH DISORDER AWARENESS DAY EVENTS held in 2020 !! We’re preparing our all photos and videos for a montage to come soon.
We are thrilled to have had a total of 45 Illumination Partners, including on own Headquarters, and five proclamations, in five countries, supporting 2020 World PVNH Day and of all affected by neuronal heterotopia disorders. To see what was done in 2019, click our 2019 montage
PVNH stands for Periventricular Nodular Heterotopia and is sometimes referred to as Grey (or Gray) Matter Heterotopia (GMH). It falls under the Neuronal Migration Disorders or Cortical Malformations of Development category. Another acronyms for it is PNH, usually seen in some medical journals. It is a rare neuronal migration disorder which is also known as PH, BPH, BPNH, PVH and subependymal heterotopia. The most common form is X-Linked PVNH (formerly called PVNH4), and is caused by a Filamin A (FLNA) mutation. PVNH can sometimes happen in conjunction with other disorders such as Ehlers Danlos syndrome, or Polymicrogyria. In addition to several gene mutations, choromosomal abnormalities can cause PVNH.
There is another form of neuronal heterotopia disorder called Subcortical Band Heterotopia, also known as Double Cortex.
PVNH Support & Awareness proudly supports more than 575 families in 34 countries and collaborates with world specialists, researchers, rare disease organisations and other groups of interests to make a positive impact in the lives of those affected by neuronal heterotopia disorders.
PVNH Support & Awareness TM is patient organization of international reach which collaborates with PVNH genetic leaders, specialists, researchers. We also have alliances with some of the most outstanding rare disease advocates worldwide. PVNH Support & Awareness TM was founded in November 2009 as a legacy for Yolaine Dupont’s daughter, Ella Dupont Bedassie. Ella was 7 months and 20 days when she passed away from respiratory failure brought on by what doctors did not know at the time was a rare disease: X-Linked Periventricular Nodular Heterotopia. The FLNA mutation she had is familial, with both Yolaine and her late mom also affected by the rare disorder, a fact that was unknown until Yolaine demanded and pursued answers.
PVNH Support & Awareness TM exists to give affected patients and families a gathering place, and to educate patients, families as well as medical and other communities about PVNH and other neuronal heterotopia disorders.
This is for Ella, so that her death is not in vain and her memory keeps on living with each affected family receiving the support they deserve.