Rare Disease – March 2023 eNews

On Tuesday, February 28, 2023, NORD and the global rare disease community celebrated Rare Disease Day. We came together to:

Join in events held across the country both in person and virtually, which included several of NORD's Centers of Excellence, Rare Action Network (RAN) chapters, Students for Rare, and more.
Celebrate thousands of individuals who joined our #ShowYourStripes campaign by posting photos in their zebra gear.
Dedicate 600+ personal stories and sentiments on NORD's Rare Disease Day Dedication Wall.
Illuminate hundreds of buildings and landmarks in Rare Disease Day colors as part of the global #LightUpForRare campaign.

On February 27 and 28, the FDA and NIH, respectively, hosted events to celebrate Rare Disease Day. These events helped to raise awareness of the challenges faced by rare disease patients and caregivers and highlighted programs to accelerate rare disease research and therapy development. Both events featured incredible speakers from the community, including patients, advocates, caregivers, researchers, and health care providers helping to foster collaboration and accelerating access to cures.

The FDA Commissioner specifically thanked NORD for our five years of partnership and the Patient Listening Sessions program that we have grown together and plan to expand. Debbie Drell, NORD's Director of Membership, also reflected on five years of unforgettable Patient Listening Sessions in her moving blog post.

In addition to holding events and workshops to honor Rare Disease Day, both FDA and NIH participated in the “Light up for Rare” campaign by displaying colorful lights on their office buildings. The Centers for Disease Control (CDC) also joined the "Light Up for Rare" campaign. We are grateful for all of these commitments to the rare disease community and support on Rare Disease Day.

NORD's Rare Diseases and Orphan Products Breakthrough Summit will take place on October 16 and 17 in Washington, DC. We are looking forward to gathering key stakeholders from across the rare disease community to share the latest updates on rare disease diagnosis, drug development, research, patient engagement, public policy, and market accessibility of orphan products.

Speaker proposals are due Friday, March 10, 2023 at 11:59pm ET.
Submit your proposal here.

For further information, eligibility, and requirements, visit the NORD Summit Website.

Join us as we reimagine the future of rare in celebration of NORD's 40th anniversary and the 2023 Rare Impact Awards. This event will take place on Thursday, May 4, 2023, at 6:00pm ET at the Smithsonian National Portrait Gallery in Washington, DC. This special evening will recognize NORD's legacy and commitment to rare diseases, and honor those individuals, organizations, and companies doing remarkable work on behalf of the rare disease community.

NORD has just announced the distinguished 2023 Rare Impact Award honorees! Learn more about each of these rare disease innovators, advocates, and partners here.

The 40th anniversaries of the Orphan Drug Act and NORD remind us that every person in the rare disease community has the power to shape the future and make a lasting impact.

As we picture the next ten years, we want to hear what you (re)imagine is possible for you and the entire rare community. What would make a difference in your rare journey, or a loved one's? What changes could empower you to live your fullest and best lives?

Share your vision and ideas today, and post on social media with the hashtag #ReimagineRare. Your voice is your gift to our community!

The Rare Disease Innovation & Partnership Summit, being held March 21-23 in Philadelphia, brings together experts from across the rare disease community to unite in areas of unmet medical need, create life-transforming therapies and breakthroughs, drive therapeutic progress, propel commercial strategies and inspire impactful advocacy.

Led by 60+ expert speakers and together with your peers, you’ll generate solution-focused strategies surrounding patient access, reimbursement, commercialization, launch, partnering and more. Please register using code 23NORD20 to save 20% off the registration rate, and book your ticket now: www.informaconnect.com/rare.

NORD’s annual State Report Card is a tool for state advocates and lawmakers to assess how all 50 states are serving the rare disease community, and to aid in advocating for meaningful policy change. This year’s State Report Card was compiled using data through November 2022 and provides a detailed analysis of each state’s performance on nine major policy areas of importance such as newborn screening, Medicaid eligibility, RDAC formation, and prescription drug out-of-pocket cost protections.

Curious how your state measures up? Visit our website to read the full report card now!

The Barth Syndrome Foundation, Children's Cardiomyopathy Foundation, National Neutropenia Network and Sudden Arrhythmia Death Syndrome Foundation have partnered with Project Sunshine to offer a virtual hour of play for children between the ages of 5-10 years old who have been diagnosed with a rare disorder and their rare siblings. This is a great way for children with a rare disease and their siblings to connect with others who are a lot like them, regardless of their diagnosis. To be join the meeting, use the password "sunshine" and this link.

Dr. Mary Rensel and Dr. Amy Sullivan joined Krissy Dilger of SRNA for an “ABCs of NMOSD” podcast titled “Mental Health and NMOSD.” They reviewed some of the tools that can enhance quality of life and address depression, fatigue, and pain levels. Dr. Rensel and Dr. Sullivan discussed support groups and stress relief for care partners and loved ones of people who are receiving care. Learn more.

Dr. GG deFiebre of SRNA and Peter Fontanez from The MOG Project were joined by Dr. Jonathan D. Santoro for the first episode of “ADEM Academy,” an ongoing podcast series about ADEM or acute disseminated encephalomyelitis. This episode is titled “Pediatric and Adolescent ADEM.” Dr. Santoro described the diagnosis process for ADEM, testing, treatments, and antibodies such as MOG-Ab, AQP4-Ab, and NMDA. Learn more.

Krissy Dilger of SRNA was joined by Megan Weigel, DNP, 200RYT for an “Ask the Expert” podcast titled “What do we know about holistic therapies to manage symptoms of rare neuroimmune disorders?” Megan explained where medical providers can locate information regarding supplements, their interactions with medication, and evidence in medical publications. She described how holistic therapies such as nutrition, mindfulness, yoga, chiropractic care, and acupressure may benefit rare neuroimmune disorders and recommended resources for those who are curious to learn more about these topics. Learn more.

FDA’s Patient Affairs and NORD are hosting two FDA Patient Listening Sessions on bronchopulmonary dysplasia (BPD) on March 17 and 20. These sessions are private, confidential virtual meetings where a small group of people affected by BPD can share first-hand with FDA staff their experiences of living with this condition. Participants are selected based upon many factors including diversity, age, geographic location, symptoms, disease severity, and other factors. FDA staff wants to hear from parents/caregivers to a loved one with BPD and survivors of BPD, to better understand their perspectives on how this disorder and symptoms impact your life, symptom management, and symptom changes over time. Learn more.

The Patient Genetic Testing Program through National PKU Alliance (NPKUA) is an initiative to provide testing for individuals with PKU. The program aims to identify the precise genetic cause of a person’s PKU/hyperphenylalaninemia. This information can be crucial for informed medical care, family planning, and research that can lead to better treatments. This program offers free genetic testing and genetic counseling to those who qualify. Contact lauren.youngborg@npkua.org for more information. Learn more.

The CureDuchenne FUTURES National Conference is an annual event focused on bringing education, connection, and hope to individuals and families affected by Duchenne muscular dystrophy. This year’s event will be held April 20-23 in San Diego, CA, and the theme is BRIGHT FUTURES, placing importance on the acceleration of critical research, improvement of care and quality of life for all, and fostering a community that supports one another and takes on the future together. FUTURES attendees are guaranteed exclusive access to important updates on therapeutic research, thoughtful discussions on the emerging approaches to care that enhance quality of life, a wealth of valuable resources, and time well-spent with the Duchenne community. This conference is family-friendly, so bring the whole team! Learn more.

The 2023 CMT Patient & Research Summit on Saturday, September 9 will offer life-improving presentations on living well with CMT and will provide a comprehensive update on current STAR research. Spend the day learning how to manage CMT and hear how you can be involved in advancing CMT research through clinical trials and studies. Learn more.

With the goal of expanding our commitment to improving care for all people living with Charcot-Marie-Tooth disease, the CMTA will be hosting a 2023 Clinical Summit for health professionals on Friday, April 21 from 10-2 EST. Eight in-depth accredited sessions will be offered for medical teams in the following areas: neurology, genetic testing and counseling, pulmonology, orthopedic surgery, physical therapists, occupational therapists, clinical studies/patient recruitment, social workers. CMTA is partnering with the best disease experts in the industry to create an incredible day of education. Learn more.

The Life Raft Group (LRG) is currently seeking to fill an Associate Development Manager position. Candidate must have a great personality, be comfortable interacting with patients undergoing cancer treatment and their caregivers, and one to three years of office experience. Primary responsibilities of this entry level manager include assisting with cultivating and engaging donors, identifying and soliciting corporate sponsors for events, managing fundraising event logistics, working with volunteers and assisting with fundraising appeals and donor acknowledgement program. This is a hybrid position located in Wayne, NJ. Learn more.

The CMT 4 Me Podcast is an emotional, heartfelt, and humorous podcast for the 3+ million people who have CMT (Charcot-Marie-Tooth disease), their friends, family, and the general public. In their most recent episode, they are joined by Ashley, a rehabilitation engineer with CMT. Ashley shares with us what a typical day looks like for her and what her focus is, which is to use her engineering background to improve people's lives. Ashley works with individuals to modify their homes and work sites to make them more accessible, as well as helps students with technology to complete their assignments. Learn more.

Join CurePSP on March 22 for a free webinar: Considerations for Your Nutritional Health with PSP, CBD or MSA! Kristin Gustashaw, MS, RDN, LDN, CSG will discuss nutrient-dense foods, strategies for hydration, preventing unintentional weight loss, and more! Learn more.

CurePSP is hosting its first ever Wellness Workshop: Holistic Health for PSP, CBD and MSA on April 19! The free virtual event will consist of educational presentations related to holistic wellness, finding time for self-care, breathwork, seated movement and music therapy. Learn more.

The Operations/Program Coordinator manages the day-to-day business operations of the Appendix Cancer Pseudomyxoma Peritonei (ACPMP) Research Foundation including cross functional collaboration with the Board, business partners and volunteers to advance the foundations mission and achieve common goals. The ideal candidate will have proven non-profit experience, excellent communications (written and oral), knowledge of non-profit donation platforms, excellent Microsoft office skills and proven project/event management experience. To apply please send a resume and cover letter to info@acpmp.org. Review of applications on a rolling basis, continuing until the position is filled. Learn more.

ACPMP has an opening for a part-time administrative coordinator to assist with management of day-to-day operations for this small non-profit organization. This a 15-25 hour per week position, Flexible days, and hours. This position is remote. Staff coordinates by phone and Zoom. Compensation ranges from $16.00 – $20.00 per hour depending on qualifications. This position reports to ACPMP’s Board Members. To apply please send a resume and cover letter to info@acpmp.org. Review of applications on a rolling basis, continuing until the position is filled. Learn more.

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Our mission: We improve the health and well-being of people with rare diseases by driving advances in care, research and policy. Learn more at: rarediseases.org

NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.