The National Organization for Rare Disorders (NORD), a Patient Worthy partner, formed in 1983 to provide support and education to people and families living with rare diseases, advocate for change and medical equity, drive policy, and advance research. In 2023, NORD celebrated 40 years of community, change, and progress within the rare disease world. This made this year’s Living Rare, Living Stronger Patient & Family Forum in Washington, D.C. even more impactful. During the Forum, patients, families, and other stakeholders come together to gain clinical knowledge, share stories, and find our strength.
Welcome Reception & Opening Remarks
Patient Worthy attended this year’s event and feels grateful to have met so many wonderful people! At the Welcome Reception on Friday night, we met Alex Gaudlap, who spoke to us about her son’s VAMP2 diagnosis earlier this year, and Robert Glenn, who created Living with a Rare Disorder to provide support and information to families in the rare disease community as a parent to a daughter with Double Cortex (lissencephaly). The Welcome Reception felt like home: warm, welcoming, and understanding.
The main event began on Saturday, May 6 with opening remarks from NORD’s President and CEO Peter L. Saltonstall, followed by a vibrant opening keynote address by Connie Montgomery of the CHES Foundation, Inc. Connie shared her own health journey: how a car accident actually saved her life. After years of fighting for answers and help, Connie ended up in the emergency room after a car accident; it was here that doctors finally diagnosed her with Factor 7 deficiency and pemphigus vulgaris. Although a rare disease journey can be scary and isolating at times, Connie says:
“We are family. We have each other. That bears repeating: we have each other. We are resiliently rare—and we are awesome!”
After some upbeat dancing and awesome affirmations, the entire room felt undoubtedly jazzed up to see what came next!
Breakout Sessions and Lots of Learning
In a plenary session called “Living with Uncertainty,” Dr. Al Freedman, PhD, a psychologist and father whose son passed away from spinal muscular atrophy (SMA), led a discussion on how to navigate life while coping with uncertainty. As many people know, uncertainty can be a huge part of your rare disease journey — and trying to cope with changes in life can come with a mental health burden. Joanne Sperando, a rare community member and advocate with pulmonary arterial hypertension (PAH), shared that adaptability is an important part of dealing with uncertainty:
“You will adapt and move forward because you have to. We have a choice when we’re faced with adverse situations. Hope can only arrive and flourish when you believe that your actions can change your future.”
Dr. Maggie Kang, MD, a mother and a caregiver to daughter Nell (who has NMOSD), and a Life Coach for mothers of children with chronic illnesses, and active-duty USAF Col. Steven Coffee, a caregiver for a son with galactosemia, also chimed into the discussion. Col. Coffee shared how his son (also named Steven) was the youngest person in the United States to have a liver transplant at the time and how his son being in the PICU really changed his perspective. The pair discussed grief and guilt—and how, to be the best caregiver, you need to adapt to this new normal and connect with the community. They offered tools on how to move forward with hope, such as learning how to reframe, staying informed, and being mindful.
Dr. Brittany Clayborne, MS, PsyD moderated a panel with Dr. Lara Bloom, President and CEO of The Ehlers-Danlos Society, and Rebekah Palmer, Vice President of Advocacy and Awareness for Next Generation of Cystinosis. This session focused on the unique challenges of adults living with rare disorders and how to overcome barriers. One way to hold steady is by finding an anchor: A(ttitude) N(ormalize that we’re not OK) C(ommunity) O(pportunity) R(est). Says Dr. Clayborne:
“The very first thing that we have to do is listen to our bodies and know WHEN to rest, but most importantly HOW to rest.”
After a lunch that included a talk with Tracy and laughter yoga, we dove into the afternoon’s sessions on family planning and decision-making with rare diseases, how to participate in rare disease research, and current government initiatives and new technologies that could benefit rare disease patients and families in the future. Two important tips shared in the rare disease research breakout session include don’t be afraid to continue reaching out to researchers and build your network. Finally, the Living Rare Forum ended with a closing keynote address from 17-year-old Jackson Goodrich, a teen ambassador for the Dent Disease Foundation.
This was just a taste of what was shared during the Living Rare, Living Stronger Patient & Family Forum. Take a look at the On-Demand Videos!
