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This patient and family-focused event provides an educational, immersive, and connection-driven experience for all attendees. Hear real stories from our community and gain practical knowledge to help you and your loved ones live your best rare life.
4:00 pm - 7:00 pm
5:00 pm - 7:00 pm
Attire- clean, neat and casual.
9:00 am - 9:45 am
9:50 am - 10:00 am
10:00 am - 10:20 am
In this opening session, Connie will share her story of being diagnosed with two rare disorders – factor seven deficiency and pemphigus vulgaris – after living with symptoms for her entire life. Connie was raised in a home and culture in which one did not discuss sickness or challenges or show weakness, and these diagnoses were overwhelming. She will talk about accepting and adjusting to her “new normal” and embracing the realities of living rare, living stronger. She will inspire us with her efforts to improve lives and empower the rare community, compelling us all to join in the rare fight.
10:20 am - 11:05 am
The journey through life with a rare disease is often filled with uncertainty. Often times, this takes a toll on the mental health of people living with rare disease and their loved ones. This session will explore ways to navigate life while coping with uncertainty, feel affirmed that your thoughts and feelings are valid and normal, nourish yourself and have a productive life with contentment amidst the unknowns.
11:05 am - 11:15 am
11:15 am - 12:00 pm
Adults living with rare diseases are whole people with relationships, jobs, hobbies and responsibilities beyond managing their care. Many experienced or are still undergoing long diagnostic odysseys that include difficulty finding validation and accessing appropriate care. This experience can negatively affect quality of life and mental health or even be traumatizing. For adults with rare disorders from marginalized communities, the struggles may be even greater. This session will explore the unique challenges of adults with rare disorders and discuss coping mechanisms and approaches to overcoming barriers.
Palliative care is often used as another word for hospice care or end of life care. However, palliative care is appropriate for people with diagnoses that are not terminal and can even be utilized alongside curative treatments! Palliative care helps focus a care team on the goals of the patient and what quality of life means to them while focusing on alleviating burdensome symptoms of disease. Come learn more about the spectrum of palliative care and how your family may benefit from this important service.
12:00 pm - 12:10 pm
12:10 pm - 1:10 pm
Topics:
1:10 pm - 1:30 pm
1:40 pm - 2:25 pm
There are many ways that rare disease patients can participate in research. Participating can benefit patients directly while also contributing to scientific knowledge about rare disorders. Many patient organizations drive clinical research forward by maintaining patient registries and biobanks, collecting data for natural history studies and funding research. This session will explore ways that members of the rare community can engage in research efforts to advance cures.
Since many rare diseases are genetic and diagnosed in childhood, parents often struggle with family planning decisions. Some rare conditions are associated with increased risks during pregnancy and may involve treatment that can impact fertility. This session will explore the important medical, social, psychological, and financial considerations relevant to these personal decisions.
2:25 pm - 2:45 pm
2:45 pm - 3:30 pm
New innovations are helping to advance the diagnosis, treatment and care of rare disease patients. This session will highlight current government initiatives and new technologies that can benefit rare disease patients and their families, now and in the future.
3:30 pm - 3:50 pm
Our concluding session will be a message of hope and inspiration for those who cope with a rare disease diagnosis from someone who is doing just that. Jackson Goodrich is a 17-year old who was diagnosed with a genetic kidney condition called Dent disease when he was 5 years old. Join him as he relates with humor, science, and sentiment about how he is coping with his diagnosis and how scientific advancements, such as gene therapy, shine a bright light of hope on the future of all of us in the rare disease community. We might be dented, but we’re not broken!
3:50 pm - 4:00 pm
