“Improving Health Care Experiences in the
Rare Disease Community”
Rare New England is pleased to announce partnership for this conference with
Cambrooke Therapeutics.
When: November 10, 2018
Where: Cambrooke Therapeutics
Time: 8:00am to 5:30pm
Thank you to our sponsors!
Speakers and talk descriptions:
"I teach, but you teach better"
40 years ago, most medical teaching occurred at the bedside; this is not the case today, and yet one can learn so much about patients and their diseases by just listening to their stories. Not only are such presentations informative, they are inspirational. In fact, their compelling nature can attract young professionals to consider rare diseases as a career choice. Having more clinicians working in this area of medicine would benefit all in the community! Consider your role in advancing the field!
Mark Korson, MD graduated from the University of Toronto School of Medicine (1982), completing a rotating internship at St. Joseph’s Health Center in Toronto (1983) and his pediatric residency nearby at The Hospital for Sick Children (1986). After completing a fellowship in genetics and metabolism at Boston’s Children's Hospital (1990), he became director of the Inborn Errors of Metabolism Clinic at Children's until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center's Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.
Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. In 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders (SIMD).
Between 2007 and 2011, Dr. Korson founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US without an on-site metabolic service. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. In October 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Physician Support to promote telehealth metabolic consulting, assisting physicians in the care of their metabolic patients. Also, as VMP Director of Education, he continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.
“Rare Disease Clinical Trials”
One of the most important tools in clinical drug development are clinical trials. In order for a medicine to be approved for use in humans the risk/benefit profile of the proposed drug must be sufficiently described. The risk/benefit profile is typically very specific to the use of the new medicine in a defined disease and patient population. Unfortunately many patients lack sufficient understanding of clinical trials and may be unsure how and where to access information. This talk will provide a fundamental review of clinical trials from the patient’s perspective. The essential elements of clinical trials will be discussed in the context of the broader clinical drug development process. The unique aspects of rare disease trials, various sources of information about trials and the importance of clinical trials will be presented with the opportunity for questions.
John Campbell has 25 years industry experience with 15 years in the pharmaceutical and 10 years in biopharmaceutical business. In 1992 he joined SmithKline Beecham (SB) doing mammalian cell culture and fermentation process development. In 1998 he transferred to Global Clinical Development & Medical Affairs at SmithKline working on the clinical development of Avandia® for Type 2 Diabetes. At SB he led the Avandia® and Avandamet® Investigator Study Program and provided medical promotional preview and publication/lifecycle management for the Avandia® family of products while continuing to work on clinical development R&D projects in diabetes and metabolism.
In 2005 he joined Endo Pharmaceuticals as Associate Director of Medical Affairs serving as Medical Lead for Frova® and played a key role in the acquisition of Indevus Pharmaceuticals helping to establish new capabilities in pediatric endocrinology, urology and urologic oncology. At Endo John worked in a number of therapeutic areas and had responsibility as Medical Lead for Valstar® (bladder cancer), Vantas® (prostate cancer), Frova® (migraine), and Supprelin LA® (Central Precocious Puberty). He also worked in clinical development for a number of opioid and non-opioid pain management compounds. John left Endo in 2012 as Director, Medical Affairs and established Med Affairs Alliance Partners, LLC (MAAP) a consulting business serving various clients in the US, Toronto and Copenhagen.
In 2014 he joined Stealth Biotherapeutics as Senior Director, Clinical Development & Medical Affairs where he led the Mitochondrial Myopathy clinical development program and developed an expertise in the clinical and regulatory development of rare & orphan drugs. At Stealth he established a new group called Regulatory & Clinical Outcome Sciences focusing on incorporating functional clinical outcomes and the patient perspective in the clinical development of Bendavia for Mitochondrial Myopathy.
In 2016 John returned to consulting supporting clients with compounds targeting rare & complex disorders in various stages of pre-clinical and clinical development. John also works with the Genetic Metabolic Center for Education (GMCE) supporting the development of a novel approach to medical education in metabolic and genetic disease. John continues to work with a number of Patient Advocacy Organizations and lives with his family in Pottsgrove, PA.
“Genetics Education Materials for School Success (GEMSS): School Can Be a Great Experience for Everyone!"
“This pre"..sentation will provide an overview of the New England Regional Genetics Network (NERGN) mission and activities, setting the stage for a presentation on a signature project: the Genetics Education Materials for School Success (GEMSS) website. The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. Children who have genetic conditions, about 1 in 20, are members of neighborhood schools across the country. GEMSS encourages collaboration between families, school, and medical professionals. This talk will provide tools for families, schools and health care providers that enable highest achievement for children with genetic conditions
Karen Volle has been with the Institute on Disability (IOD) at UNH since February 2008 and is a Project Coordinator with the New England Regional Genetics Network (NERGN). Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills here at the IOD.
“Advocating for your child in the health care setting; Strategies for Success and Self-preservation”
Parents of children with complicated and rare medical conditions too often have the experience of not being taken seriously or listened to by their children’s health care providers. This workshop will focus on strategies and tips to help you become a strong, successful advocate for your child, without losing yourself in the process.
Three mothers of children with rare disorders, will share their personal experiences and tips for overcoming the challenges of advocating for their children in the health care setting. Dr.Mark Korson will provide a physician’s perspective.
Joy Buzzell joined the staff at Epilepsy Foundation New England as the Resource and Support Services Coordinator in February 2018. She has a BS in Psychology from the State University of New York at Cortland and has been a social worker in New England for over 20 years, serving individuals and families in need. After her son, Seth, was diagnosed with LGS, Lennox-Gastaut Syndrome, Joy began volunteering within the epilepsy community to spread awareness and share her experiences to help individuals and families whose lives are impacted by epilepsy.
2018 RNE Conference Agenda
8:00 to 8:30 Registration and Continental Breakfast
8:30 to 8:45 Welcome
Julie Gortze, RNE Founder and President
RNE Team
8:45 to 9:15 Representative Joseph McKenna
9:15 to 9:30 “Legislation Action Tips 101”, Lisa Deck, RNE Volunteer
9:30 to 10:15 “Navigating the New Era of Sophisticated Clinical Tests”, Amel Karaa MD, Mass General Hospital, RNE Board Member
10:15 to 10:30 Break
10:30 to 11:15 “Rare Disease Clinical Trials”, John Campbell, GlaxoSmithKline, RNE Board Member
11:15 to 11:45 “Welcome & Introduction to Cambrooke Therapeutics Founded by Parents of 2 Children with PKU”, Lynn Paolella
“Medical Nutrition Therapy and its Role in Disease Management”, Rebecca Jennings, MS, RD
11:45 to 12:15 Breakout sessions (pick one session)
Session 1 Ketogenic Diet Test Kitchen - Rebecca Jennings, RD
Session 2 Clinical Trial Workshop - John Campbell
12:15 to 1:15 Lunch
1:15 to 2:00 “Advocating for your child in the health care setting; Strategies for Success and Self-preservation”, Joy Buzzel, Epilepsy Foundation; Mark Korson MD, VMP Genetics, RNE Board Member
2:00 to 3:00 "Promoting Better Life Quality with Helpful Resources", Angel Flights, Amy Camerlin; The Hole in the Wall Gang Camp; Next Steps, Quita Christison; Exceptional lives, Julie McKinney
3:00 to 3:15 Break
3:15 to 4:15 “Genetics Education Materials for School Success (GEMSS): School Can Be a Great Experience for Everyone!”, Karen Volle, New England Regional Genetics Network
4:15 to 5:00 "I teach, but you teach better", Mark Korson MD, VMP Genetics, RNE Board Member
5:00 to 5:30 “What’s Next for RNE” and Closing
Representative Joseph McKenna, State representative at Massachusetts House of Representatives, 18th Worcester
"Legislative Action Tips 101"
Lisa will provide visual insight on how to find your legislator, creating thinking points for connecting with legislative staff,
“Navigating the New Era of Sophisticated Clinical Tests”
Review of diagnostic tools for rare diseases and what to expect from them.
Amel Karaa, MD, Assistant Professor Harvard Medical School, Massachusetts General Hospital, RNE Board Member
Clinical Specialist at Cambrooke Therapeutics
“Medical Nutrition Therapy and its Role in Disease Management”
Medical nutrition therapy can play an important role in the dietary management of rare diseases. Find out about Cambrooke Therapeutics’ mission to serve those with rare inborn errors of metabolism and refractory epilepsy with quality nutritional products. You will hear specifically about the ketogenic diets and how they can be a useful tool in the dietary management of epilepsy and other specific disease state. You will have an opportunity to participate in an afternoon workshop to sample ketogenic foods.
"Next Steps"
Our mission is to shatter limitations and elevate aspirations of teens and young adults living with life-threatening diseases during their transition to adulthood and into an adult healthcare system. Our programs are a place where young survivors feel safe enough to laugh, share experiences, and create a sense of community with peers who truly understand their unique challenges. We empower young people with the tools and knowledge they need to begin asking “what’s next?” instead of “why me?
Speaker Bios
“Accessing Medical Care for Free for Patients and Their Families with Angel Flight NE”
The presentation will cover what it is like to fly on an Angel Flight NE, how we can help, who we can help and where we fly. It will also address who our pilots are along with how our corporate sponsors impact our flights for children and adults.
“Only 10 in the World? Parenting a child with a rare disorder, and creating resources to help other parents find their way through the maze”
In this talk, Julie will share some experiences with her son who has a rare genetic disorder, and describe the things that made it easier as she looked for resources and services. Then she will show a free online resource called Exceptional Lives, which has unique, easy-to-use tools to help families find and apply for services and benefits that can help their child thrive.
Sharon Space, MD - Medical Director at The Hole in the Wall Gang Camp
"An Overview of The Hole in the Wall Gang Camp"
An overview of services provided by The Hole In the Wall Gang Camp including summer camp, family weekends, parent programs, hospital outreach, and regional programming.
8:00 to 8:30 Registration and Continental Breakfast
8:30 to 9:00 A warm Hello!
9:00 to 10:15 Workshop 1
“Hey Hi!”
Short get-to-know-you games and mayhem. Fun easy ways to remember names and have fun. Of course, there will be music!
10:15 to 10:30 Break
10:30 to 11:30 Free Time Fun (for foosball, air hockey, basketball, hanging out, etc.)
11:45 to 12:15 Breakout sessions (pick one session)
Session 1 ketogenic test kitchen- Rebecca Jennings, RD
Session 2 clinical trial- John Campbell
12:15 to 1:15 Lunch
1:15 to 3:00 Workshop 2
“Manifest Your Destiny”
Let's make a map of where you've been, where you want to go and some goals to get you there. It's way more fun than it sounds ;)
3:00 to 3:15 Break
3:15 to 4:15 Games/free time (Quita will be on the panel to talk about Next Step in the adult conference)
4:15 to 5:00 Wrap up and Closing thoughts
5:00 to 5:30 “What’s Next for RNE” and Closing
Teen Event Agenda
The life of a teen or young adult living with a complicated group of symptoms can be challenging. This population has the extra burden of not only deciding what they want to do in the world but also must consider their illnesses around every possible choice. They may not know others affected by complex disorders, nor may they have easy access to helpful resources as they transition from life as a child with a disease to life as a viable, confident and successful adult who happens to have symptoms to manage. This community can be a support to each other during transition and RNE works to help these vibrant young people make connections they need to become who they want to be.
RNE recognizes the need for more services and connections for teens living in the rare disease community and works to find resources and organize events to bring them together!
For this Teen Event, we are excited to be partnering with Next Steps, who's mission is to "shatter limitations and elevate aspirations of teens and young adults living with life-threatening diseases during their transition to adulthood and into an adult healthcare system". Based in MA, they devote time to teens and young adults living with complex health needs and offer programs through music and the arts as therapeutic and catalyst avenues as the students contemplate direction toward adulthood. And there's FUN, lots of FUN involved too!
Dr. Amel Karaa is a board certified physician in internal medicine and clinical genetics and the director of the lysosomal storage disorder and mitochondrial disease program at the Massachusetts General hospital in Boston. She has received the 2013 United Mitochondrial Disease Foundation (UMDF) fellowship and is the president of mitochondrial medicine society. Dr. Karaa conducts clinical research for both mitochondrial and lysosomal storage diseases as well as clinical trials.
Dr. Karaa is committed to being an advocate for her rare disease patients and to educate adult providers in recognizing and treating complex patients who are often discounted as having somatization disorders and factitious symptoms.
Rebecca Jennings, MS, RD, has a Bachelor’s of Science in Nutrition and Food Science and Master’s Degree in Foods and Nutrition with emphasis in biochemistry. She is a Registered Dietitian (RD) by the Commission of Dietetic Registration. Rebecca has previously worked in the clinical and academic setting as an RD specializing in inherited disorders of metabolism, ketogenic diets and broad range of pediatric specialties. Rebecca joined Cambrooke Therapeutics in 2015 as a Clinical Specialist focusing on ketogenic and metabolic nutrition.
Amy Camerlin is the Physician and Hospital Outreach Coordinator for Angel Flight NE, a non-profit organization that was founded in May of 1996. Angel Flight NE provides free flights for children and adults needing to access medical treatment for as long and as often as needed. Amy began her career at Angel Flight NE in 1999 and in 2009 left to start her own small business. It would be five short years when Amy realized her passion was with Angel Flight NE. Having survived a serious neurological illness at the age of 17 she understands the importance of access to specialized medical care. Her illness required years of follow up care with multiple physicians as is the case with many AFNE patients. In 2014 she re-joined Angel Flight NE and has been cultivating and fostering relationships with social workers, nurses, case managers, physicians, hospital administrators and other non-profit organizations all to ensure that people in need of access to medical care are aware of AFNEs services. Providing in-services or speaking on panels to help further Angel Flight NE mission has been a priority for Amy and Angel Flight NE.
Quita Christison, MPH is an ever-evolving cyborg. She's been at Next Step for 4 years now in different roles throughout the years. She is Next Step's resident people person. She is responsible for connecting awesome young people and their providers to our programs. She has found a way to merge her two passions of theatre and healthcare by engaging youth in expressive arts to help them take ownership of their narratives. She is all about having young people get into the conversations that matter to them. You can find her exploring new places and cultures, especially through food. She loves singing, laughing, and general noise making.
Julie McKinney is the parent of a child with a rare genetic disorder and is also a health literacy professional. She has been working in health literacy for over 20 years and has extensive experience collecting and disseminating resources, training community-based professionals like adult educators, health educators and librarians, and writing information and curricula for adults with literacy challenges. She currently works with Exceptional Lives, Inc. to develop easy-to-read information Guides for parents of kids with disabilities. Her own experience with her son, who has a developmental disability, gives her a personal motivation for this work.
*Note: although all seen here is confirmed, please check back for any additions and/or any time changes!
Click on speaker's name for BIOs!
Sharon Space, MD has been the Medical Director for The Hole in the Wall Gang Camp since 2005. Sharon is a graduate of Colgate University (1986) and the University of Rochester School of Medicine (1991). She completed a residency in pediatrics at Strong Memorial Hospital in Rochester, NY (1991-1995) and went on to a fellowship in Pediatric Hematology/Oncology at the University of Colorado Health Sciences Center (1995-2000). Following completion of her training, Sharon became the Director of Pediatric Hematology at Boston Medical Center (2000-2003). While there she served as the Co-Director of the New England Pediatric Sickle Cell Consortium and as Medical Advisor for several community based Sickle Cell Anemia organizations. She started at The Hole in the Wall Gang Camp in 1989 as a summer counselor and maintained her involvement since. Prior to becoming full-time Medical Director, she served as a volunteer counselor (1990–1994), medical volunteer (1995-2002), Camp Doctor (2003) and as Medical Director at Victory Junction (2004), another camp in the family of Hole in the Wall Camps.
Breakout Session Workshops
Ketogenic Diet Workshop –Rebecca Jennings, MS, RD
“Ketogenic Test Kitchen”- You will have an opportunity to sample different ketogenic foods out of Cambrooke’s own state of the art ketogenic test kitchen. Sample pizza, donuts, cookies, shakes and more, all keto friendly. Network with other individuals who are interested in ketogenic diets for disease management or with those already on a ketogenic journey.
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"Clinical Trials, Hands-On" - John Campbell
Coming soon .....
“Welcome & Introduction to Cambrooke Therapeutics Founded by Parents of 2 Children with PKU”
Lynn Paolella is co-founder of Cambrooke Therapeutics and represents the heart and soul of Cambrooke’s mission. Originally inspired to feed her two children who have PKU, Lynn’s passion for feeding others keeps her at the forefront of food science, processing technology and patient advocacy.She will briefly share her story.
Lynn Paolella, Founder, Cambrooke Therapeutics, VP Product Development, Patient Advocate
Lynn Paolella is co-founder of Cambrooke Therapeutics and represents the heart and soul of Cambrooke’s mission. Originally inspired to feed her two children who have PKU, Lynn’s passion for feeding others keeps her at the forefront of food science, processing technology and patient advocacy.
A recognized leader in the PKU community, Lynn continues to focus refining existing product formulations while working with the Cambrooke team to develop new and innovative product ideas. Amongst her roles, she serves as a support group liaison that provides support and patient advocacy while building strong metabolic community ties to both the families and the clinicians that serve them throughout the US and abroad. Her efforts on a national and international level keep her connected to leading researchers and health care providers in the rare disease space.
GOLD
SILVER
BRONZE
RNE 2018 Conference: I Teach But You Teach Better, Dr. Mark Korson.
40 years ago, most medical teaching occurred at the bedside; this is not the case today, and yet one can learn so much about patients and their diseases by just listening to their stories. Not only are such presentations informative, but they are also inspirational. In fact, their compelling nature can attract young professionals to consider rare diseases as a career choice. Having more clinicians working in this area of medicine would benefit all in the community! Consider your role in advancing the field!
Lisa Deck is a multiple stroke survivor, experienced patient-advocate and motivational speaker. Lisa became active in the volunteer community after suffering her first stroke twenty years ago. Lisa has survived three more strokes and recently underwent double brain surgery far from home to restore her health. She serves as a motivational speaker, sharing her story of thriving after literally having her blood vessels moved to preserve her life. She too is a leading advocate and volunteer for the American Heart Association and served as a Go Red for Women National Spokeswomen 2014-2015. Lisa advocates at the local, state and Federal level for positive policy change. Lisa speaks throughout New England to inspire others and raise awareness of heart disease, stroke and Moyamoya disease. Lisa also volunteers in her kids’ schools, as a Girl Scout leader and with Rare New England. Lisa is proud to be a founder and director of Sisters@Heart.
Click here to see all the amazing presentations from our 2018 Conference!
RNE 2018 Conference: Genetics Education Materials for School Success, Karen Volle
This talk provides an overview of the New England Regional Genetics Network (NERGN) mission and activities, setting the stage for a presentation on a signature project: the Genetics Education Materials for School Success (GEMSS) website. The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. Children who have genetic conditions, about 1 in 20, are members of neighborhood schools across the country. GEMSS encourages collaboration between families, school, and medical professionals. This talk will provide tools for families, schools and health care providers that enable the highest achievement for children with genetic conditions
RNE 2018 Conference: Advocating for Your Child in the Health Care Setting, Joy Buzzel
Joy Buzzel shares her experience with having a child diagnosed with Lennox-Gastaut syndrome (LGS). Joy is a social worker and began volunteering with the epilepsy community after her son’s diagnosis, which turned into a position at the Epilepsy Foundation of New England.
RNE Conference 2018: Legislators and Personal Connections With Rare Disease, Massachusetts State Representative Joseph McKenna
Joseph McKenna of the 18th Worcester District shares his family’s experience living with hemophilia. He also talks about his co-sponsoring “An Act to Create a Rare Disease Advisory Council” in Massachusetts along with Rep. Hannah Kane.
RNE Conference 2018: Legislative Tips 101, Lisa Deck
Lisa Deck provides a talk about how to find your legislator and creating thinking points for connecting with legislative staff.
