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Vancouver, British Columbia, Canada, 2012/08/03 - Instead of celebrating Ella's 4th birthday, bereaved mom Yolaine Dupont launches the first World PVNH Support & Awareness Day. Wear Pink or yellow, take a photo, share it using hashtag #PVNHsupport to show PVNH-affected families worldwide you care.
On August 7, bereaved mother Yolaine Dupont will launch the first ever Periventricular nodular heterotopia (PVNH) Support and Awareness Day in memory of her daughter, Ella and the affected children and adults worldwide. A rare neuronal migration disorder that often goes unrecognized and untreated, Dupont hopes that though initiatives such as this will help bring awareness to this debilitating, and sometimes fatal, disease.
On August 7, Ella Dupont Bedassie would have turned 4 years old. Instead of celebrating her birthday with family, friends and birthday cake, Dupont is inviting people to participate in the social media conversation about PVNH, wear a pink or yellow piece of clothing or accessory, take a photo of and share it in social media platforms using the hashtag #PVNHsupport telling people why you do so and lastly reach out to medical professionals or organizations that may have an interest in PVNH. Most important of all, Dupont invites everyone to have fun on Ella's birthday.
“’I thought I was all alone’ is the most common comment made by family members after they find out about the PVNH support group. Very few medical professional know about PVNH, so a day to acknowledge this rare disease will help us all access better care”, says Ella’s mom, Yolaine Dupont.
For those that live in Vancouver, BC, Dupont invites people to stop by Ceili’s Kitsilano Pub between 5 - 9pm to meet Yolaine and help raise awareness for PVNH.
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.
Seizures occur in about 80-90% of patients, and learning difficulties are not uncommon, but not everyone has these symptoms. However, some individuals have profound motor, cognitive and developmental delays and some patients have connective tissue problems which can affect joints and blood vessels and lead to gastrointestinal, pulmonary and heart complications. A brain MRI investigation usually confirms the diagnosis. There is no cure to PVNH; only symptoms can sometimes be treated. If unrecognized and untreated, these problems can lead to death.
About PVNH Support & Awareness PVNH Support & Awareness is non-for-profit organization that was created by Yolaine Dupont as a legacy for her daughter Ella Dupont Bedassie. Ella was 7 months and 20 days when she passed away from respiratory failure, the cause of which was not known. Six months later, confirmation came that Ella had the rare disease Periventricular Nodular Heterotopia, with Ehlers Danlos syndrome (PVNH w/EDS) due to a Filamin A (FLNA) gene mutation. Further testing showed that PVNH ran in Dupont’s family whom is one very rare family with 3 generations of affected members. As founder, Dupont provides support currently to 87 families worldwide who have a PVNH diagnosis. Some know they have mutations in the FLNA gene, others do not know the cause of their disorder. All are looking for better care and treatment options to live life.
PVNH Support & Awareness connects families together and educates patients, family members and medical professionals about Periventricular Nodular Heterotopia. Our goal is to change the outcome of affected patients’ lives.