Remember to get your stories ready to participate on August 7th as we will be sharing stories on Facebook , X (Twitter), Instagram, and on our YouTube Channel.There will be new awareness banners available too.
World Disorder Awareness Day is made possible thanks to our PVNH, GMH and SBH families, as well as as well as our World PVNH Day illumination, proclamation, awareness partners and allies and their ongoing and unwavering support of #WorldPVNHday on August 7th. You help us raise awareness for all affected by PVNH, GMH and SBH by sharing information and showing the world you care, and about these rare disorders.
We couldn’t do it without you!
You can view photos and read stories on our Facebook, Instragram and Twitter accounts (@PVNHsupport) and here.
—-
PVNH stands for Periventricular Nodular Heterotopia and is sometimes referred to as Grey (or Gray) Matter Heterotopia (GMH) because it is the most common form of Grey Matter Heterotopia. Both fall under the Neuronal Migration Disorders or Malformations of Cortical Development categories. 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 FLNA gene deficiency. PVNH can sometimes happen in conjunction with other disorders such as Ehlers-Danlos Syndrome, or Polymicrogyria. In addition to several gene variants, chromosomal abnormalities can cause PVNH.
There are other forms of neuronal heterotopia disorders, the such as Subcortical Band Heterotopia (SHB), also known as Double Cortex.
PVNH Support & Awareness proudly supports more than 880+ families with PVNH, GMH and SBH in 40 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 an international patient organization of global reach uniting families and 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 gene deficiency at cause 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, educate patients, families as well as medical and other communities about PVNH and other neuronal heterotopia disorders, and facilate and drive research.
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, and treatment their loved ones need.
Your contributions fuels our mission. Every dollar helps us support families, create and distribute awareness tools, host educational events for families and medical professionals, and most importantly: fund research. Thank you!
There will be new awareness banners available too.
