The 2019 Global Genes Rare Patient Advocacy Summit was filled with incredible presentations that highlighted steps for progress in research and advocacy organization, provided solidarity for the rare community, and motivated the crowd to continue to push forward and make the most of each day.
The first keynote speaker was Susannah Cahalan, who shared her story of a mystery illness that distorted her reality, and her journey to recover and help others in her shoes.
Susannah was working at the New York Post when her mystery illness struck. She only has a guess at when it began in hindsight, which was well before she first saw a doctor. When she did go to be examined, she was told she may have the flu. This, at first, felt reasonable to her, she did feel tired and lacked enthusiasm. Periods of mania began where she would become highly energetic and profoundly unhappy. One day she came home from work only to wake up in the hospital a few hours later, having had a seizure while watching TV.
Susannah’s symptoms progressed and escalated. She was delusional and hallucinating. Her behavior was erratic and she continued to suffer seizures. She was put on medication for bipolar disorder. Her psychosis continued to heighten. She was put on increasing doses of anti-psychotic medication, put in restraints, and guard was delegated to her hospital room. All of her tests came back negative.
A new doctor to her case was able to put all her random symptoms together, and she was finally diagnosed with Anti NMDA Receptor autoimmune encephalitis. The condition got its name in 2007. Susannah was diagnosed in 2009.
She was the 217 person to ever be diagnosed and there was no natural history data for the disease. ANTI NMDA receptor autoimmune encephalitis. She began IV Steroids, IVIG therapy, plasma exchange, and oral steroids- with no one really knowing what her level of improvement might be. At the time of her diagnosis, Susannah wasn’t speaking or walking.
Susannah gained lucidity and capabilities, but the uncertainty of how she would end up plagued her. She was angry with her body and upset that people pitied her. She was able to go back to her job at the New York Post, and wrote an article about her illness. She was inundated with responses.
Susannah’s eyes were opened to how sharing her story could make a difference. She went on the Today show, and was able to hear directly of patients who were unable to be diagnosed until they were made aware of autoimmune Eencephalitis through her work. Amazed that sharing her experiences was leading to others being diagnosed and their lives being saved, Susannah continued to put herself out there and joined two nonprofit groups foe encephalitis. She began educating physicians and others in the community. She realized that the work is never over when it comes to advocacy.
She felt immensely lucky and was, and is, determined to make others as lucky as she was.
“People just want to connect with people who are going through what they’re going through, because rare disease is so isolating, connection is important.” – Susannah Cahalan
You can read more about her story via her book, Brain on Fire.
In addition, to moving patient and advocate stories, the summit provided an opportunity for various organizations and researchers to show others how they have accelerated research, increased an understanding of rare conditions, and utilized technological advancements to bolster their efforts.
For example, the CMTA has developed an app that prompts users to fill out a survey twice yearly. In this way, they are learning the extent of the overall disease burden of CMT on patients –including which symptoms are most severely impacting their lives, the financial implications of living with CMT, and how it effects their personal and professional lives.
Maya Brown-Zimmerman shared information about the Marfan and Related Conditions International Patient Registry, which functions via an app that patients can update and choose which information is shared with whom.
Shimul Chowdhury, PhD, showcased how rapid whole genome sequencing can help children in the ICU be diagnosed sooner. “Before, we identified diseases by phenotypes, but now we can diagnose them before the disease presents a certain way. If we make the diagnosis early enough we can have a measurable impact.”
Ryan Taft, PhD, echoed the promise and possibilities that genome sequencing holds- but cautioned that all sequencing tests are not created equal. He stated that one of the primary barriers to sequencing are a lack of physician education and awareness and, while insurance coverage is increasing, testing often only takes place when the caregivers are well informed. He concluded that the diagnostic efficacy of sequencing continues to improve and that those who had sequencing conducted in the past and did not receive meaningful results should have a re-analysis done.
Manish Butte, MD, PhD suggested RNA sequencing as a complementary test to whole genome sequencing, and advocated for drug re-purposing. Butte stated that, because rare disease populations can be so small, in some cases we need to switch from evidence based medicine to “rational medicine” – pursuing promising potential pathways to move forward.
Sean Baumstark and Kyle Bryant, hosts of the 2 Disabled Dudes Podcast, led a panel discussion with Neena Nizar, Onno Faber, and Katie Stevens. Click here for highlights from the panel in part 2!