September 13th & 14th, 2017 – Irvine, California was the place to be for the Global Genes Rare Patient Advocacy Summit. There were nearly 140 rare disease organizations represented, and CMTC-OVM US was one of them! President Rebecca Gallis “Bec” & Ellayna had the pleasure of being 2 of more than 600 people in attendance. The motto of the summit was: CONNECT, COLLABORATE, ACTIVATE. Engagement during this summit was easily achieved by using the Global Genes Summit App, sponsored by Genentech.
The summit was kicked off by a fantastic keynote speaker, Simon Wheatcroft. Simon is known as the blind ultramarathon runner who refuses to quit. Blind since the age of 17, due to the rare disease of Retinitis Pigmentosa. He has spent his life pushing the boundaries, as he began training to climb mountains and run marathons. Simon began training on football fields, positioning himself between goal posts using an app to measure distance and pace.
“Even on this football field though, things were getting dangerous, Simon stated. It was the dog-walkers. They presumed I could see. I presumed they would move. So my wife drove me to a closed-off road nearby. By feeling the double yellow lines beneath my feet I could keep myself on track, and I started thinking about what I could achieve mixing this tactile feedback with Runkeeper’s audio information.”
With humor and perseverance, Wheatcroft has accomplished the unimaginable!
A Patient’s Guide to Next-Generation Sequencing Methods
This session was moderated by Tim Miller, Ph.D., CEO and President , Abernathy Therapeutics, and Member, Global Genes Medical & Scientific Advisory Board. The panel was filled with genomic medicine professionals. The discussion was focused on genetic sequencing and the role it plays in diagnosis and research. The approaches discussed included whole exome sequencing, whole genome sequencing, and RNA sequencing. These tests have great significance in the rare disease community. Obviously, the benefits of this type of testing is impacted by the number of cases in a specific disease.
Beyond Clinical Care
The best way to cope with a current or future healthcare issue, is to address it with the attitude of “Knowledge is Power.” It is crucial to choose the right time to discuss a diagnosis of a rare disease with your child. In addition, it is important to choose the right words to tell them, those that they can understand, and only the words that answer their questions. During this session Brad Thompson, Family Support & Empowerment, Child Neurology Foundation gave his guidelines for tackling this obstacle.
Your kids don’t want to know the same information you want to know.
Remember your kids hear everything, be mindful what you say and discuss in front of your kids.
Find the middle ground, give the information that is necessary. Each child is individualized, and so should the information you give to them regarding their diagnosis.
See life through your child’s eyes
Your child may have limitations. However, it is important for your child to find them, and parents to not place the limitations on their children.
Rare Disease Activism
Fresh Minds, New Ideas: Working with the next generation of clinicians and researchers.
The most advantageous step with the already well-established collaborations between researchers and clinicians, is to initiate these collaborations in the rare disease world during the early stages of their respective careers. Researchers welcome advocacy organizations who have developed programs for ““.
Strengthening Your Care & Support Team
Coping with a long-term hospital stay: The goal is to remain engaged in life throughout and beyond a hospital stay. Financial Planning expert Lori Leathers and Child Life expert Eileen Clark shared ideas to assist families with the best way to plan for a long-term hospital stay. Maintaining quality of life can be a full time job, with a child with a rare diagnosis/special needs. This can be especially difficult when you have to `consider caring for siblings simultaneously. A new financial tool is the ABLE (Achieving a Better Life Experience) accounts, which are tax-advantaged savings accounts for individuals with disabilities and their families. For the first time, eligible individuals and their families will be allowed to establish ABLE savings accounts that will not affect their eligibility for SSI, Medicaid and other public benefits.
Child life specialists are child development experts who support coping and adjustment through therapeutic play, diagnostic education, age-appropriate preparation and expressive activities that enhance understanding and support mastery of challenging experiences. This is achieved through compromise, routine, adaptations strategies, rituals, and more. These techniques create control, in an environment that is generally out-of-control.
Successful Scientific & Family Conferences
Building Community and More: The full potential of family conferences.
Brenda Conger and Genie Stevenson walked us through this session explaining the importance of focusing meetings to provide a greater understanding of a disease and enhance patients clinical care. These gatherings are vital for sharing experiences, feelings, in addition to support. It was exciting to learn how the Global CMTC-OVM US Organization is meeting the guidelines of the model that was presented.
Stories of Hope and Persistence
We Carry Kevan: a story of innovation and perseverance which inspires us all to pursue our dreams. Kevan Chandler and three of his friends began their trek backpacking in Europe in June, 2016. What makes the group unique? Chandler has a genetic disorder and is being carried by his friends in a specially designed backpack. Thirty-year-old Kevan from Fort Wayne, Indiana, has Spinal Muscular Atrophy (SMA), causing progressive muscle weakness by affecting the part of the nervous system that controls voluntary muscle movement. One of Chandler’s biggest dreams was to travel through Europe and, to make that happen, his friends trained to build up the strength needed to literally carry their 65-pound friend. Definitely a story of hope and persistence, coupled with determination and perseverance. Absolutely incredible!! The Mission: Believing in the inherit value of all people, WE CARRY KEVAN mobilizes individuals with disabilities by redefining accessibility as a cooperative effort.
Working with the NIH and the National Center for Advancing Translational Sciences (NCATS) is the process of moving findings from the lab/patient data into clinical research. NCATS mission is to catalyze the development of innovations that accelerate this process, and includes several programs focused on rare diseases. Christopher Austin, M.D. and Director of NCATS explained how they look at what’s common about rare diseases, rather than what’s different. NIH grants programs is a support mechanism to assist a researcher to follow a line of research, with scientific and/or medical value. NIH houses 27 individual institutes each with a specific research agenda, often focusing on particular diseases or body systems.
How Digital Health Will Transform Rare Disease Clinical Trials
What is digital health technology? The panel for this session included: Lina Molnar, Kent Thoelke, Tomasz Sablinski, Jennifer, and Munther Baara. Digital breakthroughs are enabling healthcare enterprises to improve labor productivity, clinical outcomes, and human experiences. This unprecedented era of technology innovation is allowing clinicians and service workers to broadly apply their knowledge, freeing up more face time to spend delivering a human touch. And, as technology affords greater opportunities for self-management, it’s empowering people to consume healthcare on their own terms. It is no longer about what technology can do for people, it’s what people can do WITH technology. Clinical trials are evolving to incorporate advances in digital health technology to enable faster and more efficient patient recruitment, stronger patient engagement, the collection of a wide range of robust data on patient outcomes, and through the use of wearable devices and sensors.
Care & Support for Your Kids
Support for the Rare Disease Family: Caring for siblings of kids with rare diseases.
This session was lead by Lori Leathers and Elian Marchenko. Parents often tend to wonder if the siblings are feeling neglected because of the attention given to the child who needs special equipment, treatments, operations, visits to clinics, and more. While some siblings lean toward wanting to help, sometimes with everything, others shy away and want to distance themselves from the rare child. Family meetings are helpful to address feelings and thoughts related to the focused care of the rare disease child. During this meeting you can discuss what’s working and what’s not, and to set goals to improve family cohesiveness. It was suggested for families to join a rare disease sibling group and a financial planner to gain insights into the many gifts and challenges faced by siblings, and how to best ensure they are cared for throughout their childhood.
Legislative & Medical Advocacy
A New Approach for State Advocacy: Rare disease advisory councils.
Sharon King and Tara Britt discussed how the state level is where policies affecting the rare disease community are initiated. It is important for patient’s to have a strong voice to recommend changes to policies and organizations, as advisory councils are created. State advisory councils can lead you through the ins and outs of the management and creation of a state rare disease advisory council.
Care & Support For Your Kids
Rare Kids Growing Up: Experiencing transitions in care and life.
Transition – the process or a period of changing from one state or condition to another. Symme Trachtenberg enlightened the group on growing up as a rare kid, they can go through multiple stages of transition. Two areas that can contain the most dramatic change is transitioning from pediatric to clinical care, and transitioning into the workforce. However, there are ways to ease this transition, making it smooth and less painful. The conversation of transitioning from pediatric care to clinical care as an adult, should be initiated by healthcare providers around age 13. Many adult providers have no clue about pediatric rare diseases. Therefore; finding a knowledgeable, or willing to learn, physician can be challenging.
REACH: Rapport, Empowerment, Advocacy through Connections and Health. This is a useful tool Dr. Mary Zupanc shared to demonstrate the empowerment to those entering a transition into adulthood. REACH programs are for adolescents, teens, and young adults with chronic conditions and their parents. The goal is to prepare youth with special healthcare needs for a successful transition into adulthood by providing peer support, guidance, and resources. The Child Neurology Foundation has created a resource focusing on 8 Common Principles to Assist with the Transition of Care. You can find this resource here: 8 Common Principles
Rare Champion of Hope Awards
The categories include: Advocacy, Teen Advocacy, International Advocacy, Collaboration in Advocacy, Innovation, Rare Disease Awareness, Science, Medical Care & Treatment International, Medical Care & Treatment. There was one individual who received one of these awards whom many of you may know, Dr. Millan Patel. Sadly, Dr. Patel was unable to attend the summit to receive his award, Ellayna was truly disappointed. For those who do not know Dr. Patel, please allow us to share his bio.
Millan Patel obtained his Masters in Genetics and M.D. degrees at the University of Alberta and completed residency training in Medical Genetics at the Hospital for Sick Children in Toronto. He is currently appointed as a clinical assistant professor in the Department of Medical Genetics at the University of British Columbia. Millan is a co-founder and Research Director for the Rare Disease Foundation. He is passionate about raising awareness of rare diseases, finding ways to make research on rare diseases more effective and bringing the parent and patient voice more strongly into research funding decision making. As Research Director, he designed and oversees a microgrant program designed to find and fund good ideas that will improve rare disease care within one year. To date, almost 400 microgrants have been distributed to recipients in five countries with results leading to multiple therapies for diseases, global clinical practice changes and improved care for many.
There were other sessions offered simultaneously during the summit including: Rare Activism; the bottomline on giving research grants. The Drug Development Pathway; how a therapy gets developed and approved. Science and Technology Innovation; understanding the biology of rare diseases. Drug Development Getting into the Clinic; getting from the lab to the clinic faster. Development and Approval of New Therapies; the rare disease organization as a researcher.
This was the second year CMTC-OVM US was represented at the Global Genes Rare Patient Advocacy Summit. We made some new connections, and truly had a great time representing your organization.