"Navigating the School System to Get What you Need", Leah Burke, MD, University of Vermont Children's Hospital
Working with the schools on establishing IEPs, 504 plans, and individual therapies can be overwhelming for families. We will talk about handy resources as well as ways to advocate for your child and educate their teachers and schools about your child’s condition.
"Managing a complex disease in a complex health care system", Mark Korson, MD, Rare New England Board of Director
- Rare diseases are often complex and multi-systemic. Physicians and health professionals are not well trained around these conditions which puts pressure on the patient or parents to have to educate and advocate on behalf of themselves or their child. This can lead to high stress situations, especially in the inpatient setting. This talk reviews the nature of complex rare diseases and the challenges patients and families face, and introduces practical suggestions to reduce the opportunities for stress and help make care a smoother process
"How to Navigate the Insurance World When You Have a Rare Disease", Betty Morse, Technical Assistance Specialist, Vermont Department of Health, Children with Special Health Needs
- In a perfect situation navigating your health insurance coverage would be easy. However, the reality is, health insurance is a complex topic for most people. And more so, if you have a rare disease.
Have you ever asked yourself these questions?
How do I know if my insurance plan will fit my needs?
My prescription has been denied, what can I do?
What do they mean it isn’t medically necessary?
How do I talk with my insurance company?
What do I do next?
Where can I get assistance?
Traveling in your insurance world when you, or a loved one has a rare disease can seem frustrating and confusing. This presentation is geared to give you some strategies to develop a better understanding of your insurance needs, and be better prepared to navigate your insurance world with confidence.
"Genetic and Genomic Testing 101", Ben Solomon, MD, Managing Director, GeneDx
The genetic and genomic testing landscape is changing very quickly. It can be dizzying to try to keep up with new developments and understand what they mean for patients and families, as well as clinicians in the field. This talk will discuss the past, present, and future of genetic and genomic testing, focusing on how this area of medicine relates to rare diseases.
"Patient Story" - Krystye Bettney
Krystye 's daughter was diagnosed with Infantile Onset Pompe Disease. When she was 4 months old they noticed that something was wrong. With the help of family, healthcare providers, and friends at Genzyme, they were able to identify that her daughter Mackenzie had the treatable form of muscular dystrophy called Pompe Disease. Also known as Glycogen storage disease type II, IOPD is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe. Krystye's daughter is now 2 years old, on enzyme replacement therapy, and she is doing great. As a caregiver for a family member dealing with a rare disease, Krystye's focus is to provide her with the best care possible, as well as raise awareness for others in a similar situation.
"Patient- and Family-Centered Care: Improving Care through Mutually Beneficial Partnerships", Amy Cohen, PhD, BCBA, CLSSGB, PMP
Patient- and Family-Centered Care Program Manager
The University of Vermont Medical Center
Patient- and Family-Centered Care is a unique approach to the planning, delivery, and evaluation of health care that is grounded in mutually beneficial partnerships among patients, families, and healthcare providers. This presentation will review the 4 core principles of patient- and family-centered care, specifically: dignity and respect, information sharing, participation and collaboration. We will discuss how patient- and family-centered care leads to improved outcomes for patients, family members, and communities, highlighting the various ways that individuals can get involved and how patient and family engagement can shape the future of health care in our area
"Vermont Family Network: Family-to-Family Support, Information and Connections", Joanne Wechsler and Connie Simendinger, Vermont Family Network, Vermont Family Network (VFN) Family Support staff are skilled, caring families of children with special needs who have “walked the walk and talked the talk.” Learn how we can provide support and empowerment as you navigate the complexities of special education and healthcare systems. VFN has many ways that we can help you become your child’s most effective advocate as a partner with the professionals who serve your family.
"Promoting Better Life Quality with Helpful Resources",, Angel Flights, Vermont Therapy Dogs, Muscular DystrophyAssociation
e will hearaboutvaluable resources for patients and families living with rareand complex disorders.