WORLD PVNH DISORDER AWARENESS DAY 2020 

Here is a montage of the landmarks lit up in 2019, and two of our Proclamations (the city of Vancouver and the province of British Columbia in Canada) in support of all affected by neuronal heterotopia disorders.

 

Left image: Queen Elisabeth Quay (AU), BC Place (CAN), High Level Bridge (CAN), Optus Stadium (AU), Canberra  Tower (AU), Sydney, Canada Place (CAN), Niagara Falls (CAN), Jack Pool Plaza (CAN). Image on the right: Bell Tower (AU), Vancouver Proclamation, The CN Tower (Canada), BC Proclamation (CAN), Calgary Tower (CAN),  Peace Bridge  (Canada/USA), Parliament House (AU), Science World.

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 (previously 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 550 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.

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 heteropia disorders.

This is for Ella, so that her death is not in vain and her memory keeps on living, forever.

Get your #pinkandyellow ready and join us on August 9th as we celebrate the 7th World PVNH Disorder Awareness Day!!