FOR IMMEDIATE RELEASE
CANADIAN Mom LEADS First global
PVNH conference in Memory
of Ella, october 17-19 IN BOSTON
VANCOUVER, BRITISH COLUMBIA, October 17, 2013 – On March 27, 2009, Yolaine Dupont lost her 8-month-old daughter Ella to a rare disorder, which was then undiagnosed. Six months later, after Ella’s DNA was sent to Boston Children’s Hospital for genetic testing, her diagnosis was formally confirmed: x-linked periventricular nodular heterotopia (PVNH). It’s a rare neuronal migration disorder that often goes unrecognized and untreated—and which can strike at any age and affect multiple organs. Further testing also confirmed that Ella was the third generation of females in her family with the disorder.
To bring more awareness to this debilitating, sometimes fatal disease, Dupont founded an international non-profit organization and support network, PVNH Support & Awareness, which unites nearly 200 families in 16 countries. On August 7, 2012, the first World PVNH Disorder Awareness Day was celebrated. Dupont is now gearing up to host the first World PVNH Disorder Conference in Boston, from October 17 to 19, 2013
The conference will bring together patient families who have been impacted by PVNH with medical specialists and advocates from the U.S. and Europe, including expert specialists from Boston Children’s Hospital. Christopher Walsh, MD, PhD, Chief of Genetics and Genomics at BCH, and Cardiologist Ming Hui Chen, MD, MSc, will both be lecturing at the PVNH Disorder conference that takes place at the Hyatt House Boston/Waltham. All presenters and attendees are seeking new means of better diagnosing and treating the condition.
’Our doctor said it was very rare and he did not know what life would be like for my child’ is the common comment from family members after receiving a diagnosis, says Dupont. Choosing Boston as host city made perfect sense for Dupont, since it was the DNA Diagnostics lab at BCH that confirmed the diagnosis for her family. Boston Children’s Hospital’s BrDG (Brain Development in Genetics) Program aligns genetics, neurology, cardiology, genetic counselling, and research to build a comprehensive approach to diagnosing and treating this rare disease state at the earliest stages. Dr. Chen recently started a cardiology clinic to accompany the work being done in the BrDG Program.
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 to 90 percent 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 cardiovascular complications, among other issues. A brain MRI investigation usually confirms the diagnosis. There is no cure for PVNH; only symptoms can sometimes be treated. If unrecognized and untreated, complications of PVNH can sometimes 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; a very rare family with 3 generations of affected members. As founder, Dupont currently provides support to 185 families in 16 countries who have a PVNH or other neuronal heterotopia 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 develop Centres of Excellence for PVNH Care, to launch research studies to better understand symptom management and find new genes at cause and, and hopefully one day, finding a cure.