2015 QUARTERLY WEBINAR SERIES
Child Neurology Conversations from the Parent, Provider, and Advocate Voice
Quarter II
NAVIGATING A RARE DISEASE DIAGNOSIS: 
A DISCUSSION FROM THE PARENT, PROVIDER,
AND ADVOCATE PERSPECTIVE

Register today to join the conversation, ask questions, and connect with other parents and partners in care!

      Wednesday, July 22, 2015 @ 3pm (EDT) * Free


Click the button to register.  
Webinar Description: 

There is often a misconception that medicine is a black and white process that leads from diagnosis to treatment, from illness to health. Parents and caregivers ultimately seek one answer: How will the provider cure my child? 

In the child neurology community, we understand there is not always a simple answer to that question. In fact, there are many questions that do not have specific answers; others are difficult to find or understand. And so the search begins. 

Often a lengthy journey fraught with anxiety or fear as well as serial assessments, testing, and great use of resources, the diagnostic odyssey toward a rare disease diagnosis exemplifies the challenges and uncertainties of such a search for all involved. Regardless of the role one plays during this process, it is usually described as a life-changing or definable moment, as it challenges the science and art of medicine as well as the human condition. 

Join experts from the child neurology community for a 60-minute webinar as the trials and triumphs of navigating a rare disease diagnosis are discussed from the provider, parent, and advocate perspectives. In this webinar, you will learn:

*The process providers take when approaching a differential diagnosis;

*What it is like for providers to not observe the expected pathology for the initial diagnosis and, ultimately, have to give a rare disease diagnosis;

*The science and art of practice as a child neurologist working with pediatric patients diagnosed with a rare disease;

*The patient/caregiver experience associated with a rare disease diagnosis; 

*What caregivers wish they would have known, done, or asked during the diagnostic process;

*What caregivers should expect from providers during this process;

*Caregiver perspective on research and patient/ family access to clinical trials;

*National advocacy efforts related to rare diseases and resources/ opportunities for families and providers;

*Tips for caregivers to connect with available resources and appropriate research opportunities.
PRESENTER INFORMATION 

Pat Furlong: Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). Their mission is to end Duchenne. They accelerate research, raise their voices in Washington, demand optimal care for all young men, and educate the global community. Duchenne is the most common fatal, genetic childhood disorder, which affects approximately 1 out of every 3,500 boys each year worldwide. It currently has no cure.  When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn't accept "there's no hope and little help" as an answer. Pat immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but she continues to fight-in their honor and for all families affected by Duchenne. In 1994, Pat, together with other parents of young men with Duchenne, founded PPMD to change the course of Duchenne and, ultimately, to find a cure. Today, Pat continues to lead the organization and is considered one of the foremost authorities on Duchenne in the world.

Lisa M. Phelps, MPH: Director of Membership at National Organization for Rare Disorders (NORD). As a member of NORD's senior management team she leads in strategic and operational governance as they pertain to NORD's membership program and services.  She collaborates with other leaders within the rare disease community to provide programs of education, training, advocacy and mentorship.  She is currently involved in leading and implementing a national advocacy network for the rare disease community in the United States.  She received her Masters of Public Health from the George Washington University School of Public Health and Health Services.  Her educational background is in legal studies and health policy.  Her professional background includes legislative and legal work, in addition to a fellowship with the National Biodefense Science Board, a federal advisory committee which provides expert advice and guidance on preventing, preparing for, and responding to adverse health effects of public health emergencies to the HHS Secretary and ASPR. Lisa is committed to improving health outcomes for patients with rare diseases.  

Shafali Spurling Jeste, MD: Assistant Professor in Psychiatry and Neurology at UCLA, and she is the director of the Electrophysiology Core at the UCLA Center for Autism Research and Treatment. She currently serves on the board of directors for the Child Neurology Foundation. She also serves on the Professional Advisory Board of the Dup15q Alliance and the Tuberous Sclerosis Alliance. She has been the recipient of the Child Neurology Foundation's Researcher-in-Training Award (2007) and the American Academy of Neurology's Clinical Researcher-in-Training Award (2008). She also was selected for the AAN Emerging Leader Forum for 2013-2014. Her research focuses on the design and application of novel, electrophysiological methods to better characterize behavioral and cognitive domains in infants at risk for autism and very young children with autism, in order to ultimately use biomarkers to help define treatment targets and predictors of treatment outcomes. She also studies several neurogenetic syndromes that are associated with autism, including Tuberous Sclerosis Complex and Dup15q syndrome. She has published several manuscripts on the neurology of autism, as well as on early predictors of autism in Tuberous Sclerosis Complex. Her research is funded by NIMH, NICHD and the Department of Defense.


Amy Brin Miller:  Amy has been working on behalf of children with special needs and their families for over 13 years. She is a pediatric advanced practice nurse; Board Certified in Pediatrics and Hospice and Palliative Medicine. Miller has been responsible for the development and administration of various tertiary, ambulatory and community-based pediatric palliative and hospice programs in several states. Miller graduated with honors from Vanderbilt University, with a Masters of Science in Nursing. She has a previous Masters in Arts in Communication from Miami University. She is a nationally published author, notably in Pediatrics, as well as in a featured end of life chapter in Advanced Practice Nursing of Adults in Acute Care. In 2011, Miller authored the Pediatric Hospice chapter within the American Academy of Hospice and Palliative Medicine, The Hospice Medical Director Manual. Miller served as adjunct faculty at Vanderbilt University School of Nursing and University of Kentucky's College of Nursing. In 2009, Miller began her consulting career with the American Academy of Pediatrics regarding building systems of care for children with special needs, as well as children's hospitals and community-based agencies related to establishing home health and hospice service lines. In 2013, she began consulting with the Child Neurology Foundation regarding transitioning youth with neurologic disease from the pediatric to the adult healthcare system. Miller currently serves as acting Executive Director for the Child Neurology Foundation. 

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