FOR IMMEDIATE RELEASE
Bereaved Mom Launches World’s First
PVNH Support & Awareness Day in Memory
of Ella on August 7, 2012
VANCOUVER, BRITISH COLUMBIA, August 3, 2012 – On August 7, 2012, 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 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, 2012, 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, 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.
Hi, just came across this website. My son Andrew 20 yo has PNH as well as posterior PMG (polymicrogyria) and Cerebellar Hypoplasia. He is independent , loves running, Facebook and has his drivers permit.We saw Dr Rick Leventer ( Neurologist) and Dr George McGillivray (Genetiscist) in Melbourne in April. Dr McGillivray was surprised at Andrews athletics achievements, (he can run 100 m in 15 secs)Andrew does have poor verbal speech but we didn’t even know if he was going to speak. Andrew is very social and looks forward to getting a job.
Hi I have just come across this site which is a supprise as I am sure I have searched before. My daughter Siobhan who is 17 years has been diagnosed with Bilateral PVNH for over four years now, we to live in Melbourne and have seen Dr Rick Leventer and Dr George McGillivary. She has great life skills and is a delight but suffers terrible anxiety as a result of controlling the seizures. I would love to share information with other parents.
Hi, Yolaine I am very sorry about Ella she was an angel. I have being searching in the internet for people all around the world asking question who knew about this PVNH4 and never had a chance to know somebody yet until i found your angel Ella story… I am original from Bolivia South America but I live here in the USA. I have a 13 year old girl all her life I knew there was something special about her but no doctor never notice her symptoms all started with pain in her body dilocations until last year 2011 they finally told she has EDS type 3 I was relieve to find out why she was suffering with to much pain but now i knew how to treat her and take care of her body… Until the ends os 2011 she started conplainin of headache, dizzy, numbing in her face, waking unbalance, loss of memory, lower grades in school, panic attaks, black out, and so on symptoms with no explanation… They did a MRI and found out she had multiple heteroptopia in the brain. They called it Subependymal Heterotopia, the neorologist told me to not worry some people leave with it and as long as she doesnt have seizures she can have a normal life and just in case they will do an neurophysiology testing… I did my research and found there is a chance of PVNH4 she could have. I went back to the neurologist and told her are you sure its not PVNH4 and she said NO… I went to the genetics and told her I think she has this and they told me that Subependymal and Periventricular Heterotopia are almost 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…
Anne and Kayanne, you are moer than welcome to join the support group which is currently on Facebook. Best, Yolaine
Hi, I have read through your website and been really pleasedand impressed about what it is attempting to do for people with PVNH and how it is raising awareness of this condition in its various forms. I’m just so sorry that this had to come about from the death of Ella.
I have PVNH with EDS. This results in fatigue and pain with gastrointestinal problems. Epilepsy is fairly controlled. My daughter has severe EDS. The EDS is of the hypermobile type. We have leaking heart valves and I have impaired gas exchange after feeling breathess and was told this had been found previously in EDS folk. This is managable though.
We both test positive for the Filamin A gene mutation, genetic studies done at St Marys Manchester, tested at Oxford.
My most sincere apologies for not responding to you sooner. Thank you for your message, I am glad you found us! I would love for you to join our PVNH Support group where we have a few PVNH4 (PVNH with EDS due to Filamin A mutation) families and many UK PVNH affected families. Let me know how we can help your family! PS – we are planning our first conference in October 2013 in Boston, USA. Stay tuned for details.