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BEREAVED MOM LEADS WORLD PVNH AWARENESS DAY IN MEMORY OF ELLA ON AUGUST 7, 2013
VANCOUVER, BRITISH COLUMBIA, July 30, 2013 – On August 7, 2012, bereaved mother Yolaine Dupont launched the first ever World PVNH (Periventricular Nodular Heterotopia) Support and Awareness Day in memory of her daughter, Ella, and for affected children and adult. In 2013, Dupont continues her volunteer work, leading the 2nd World PVNH Disorder Awareness Day in 14 countries worldwide. A rare neuronal migration disorder that often goes unrecognized and untreated, Dupont hopes that initiatives such as this will help bring awareness to this debilitating, and sometimes fatal, disease, ahead of the World PVNH Disorder Conference to take place in Boston this coming October.
On August 7, 2013, Ella Dupont Bedassie would have turned 5 years old. Instead of celebrating her daughter’s birthday with family, friends, presents 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 hashtags #PVNHday and #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 5th birthday.
’I thought I was all alone’ and ’Our doctor said it was very rare and he/she did not know what life would be like for me (or) my child’ are the most common comments made by family members after they find the PVNH support community Dupont runs as a non-profit organization. Very few medical professional know about PVNH, so a day to acknowledge this rare disease helps affected families access better care and more support from family and friends”, says Ella’s mom, Yolaine Dupont.
For those that live in Vancouver, Dupont invites you to stop by Ceili’s Pub downtown between 6 – 10:30pm to meet Yolaine, help raise awareness for PVNH as well as collect funds for the cause. Tickets are $10 and there will be a silent auction and door prize. All proceeds to support PVNH families, locally and around the world.
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 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, among other issues. 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 died 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 currently provides support to 165 families in 14 countries who have a PVNH diagnosis. Some know they have a mutation 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 to the fullest.
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 develop research studies to better manage symptoms, find new genes at cause and hopefully, one day, finding a cure.
NO I went to the genetics and told her I think she has this and they told me that Subependymal and Periventricular Heterotopia are aolmst the same but the MRI said she doesnt have no Periventricular.. And i said to him please just do a test on her just to make sure If it wasnt for my research and insisting doctors for help I wold be able to find out The results came in they apologize to me and said its positive she has PVNH4 They have send me to a cardiologist she has POTS in tops of all her heart is leaking mild, her heart its pumping so fast and some times to low up to 30 beats per min. All of these what i am sharing with you has happen this year this month and still is. I feel so alone the doctors never saw this they only had read in the medical book, she is so rare I am afraid they give her wrong medications I call everywhere for answers and I think I found something but not sure at this hospital JOHN HOPKINGS at Baltimore Maryland . I get fustrated when doctors dont know and never saw it and they try to experiment on her with meds and they tell me thing I already know It is hard to leave with my daughter trying her best and you knowing that anytime her aorta is getting larger or the leak of the heart or her body pain or the dislocation, so many thing I only hold on to my faith and for god to guide me to the right path God bless all the people who are reading my story and to those who have this and to the people who take care of this angels They are so fragil And Mrs. Dupont I thank you for your page for other to know abouth PVNH4 specially DOCTORS Connie
Hi Connie, I’d happy to help you navigate through the diagnosis. Please email me at info at PVNHsupport dot com so that we can discuss what is going on and how best we can help. Yolaine