Rare Disease Month

Today we’re kicking off our Rare Disease Month to raise awareness for over 400 million people affected by rare disease globally — which includes members of our community.

Having a rare disease is not easy. It is so much more than just a diagnosis. Finding support is difficult because not many people share the same diagnosis. The unanswered questions, the lack of experts nearby, the psychological and emotional challenges can be challenging. And the list goes on.

Rare diseases are often unknown and overlooked, falling through the cracks when it comes to research budgets and treatment development. People don’t seem to care enough.

We are here to prove the opposite. Because we —and you— do care. There is strength in numbers. If we, the public, patients, industry, regulators, policymakers, healthcare professionals, researchers, politicians, and advocacy organizations collectively fight for a brighter future for all those affected by rare diseases, we will transform the future for diagnosis and treatment of rare.

Follow us on Facebook, Instagram, and Twitter, and join us this month in sharing facts, your personal story, and raising awareness about your rare disorder. This month, we’re inviting you to share your story as part of the “This is Me” Awareness Campaign. By bringing the faces and voices of those living with rare neuroimmune disorders to the forefront, we can empower our communities, researchers, physicians, and governing entities to understand these rare and life-altering diagnoses better.

The 2020 Virtual RNDS Summary and Videos Now Available

The 2020 Rare Neuroimmune Disorders Symposium (RNDS) took place on August 29th. While the event was originally scheduled to take place in Salt Lake City, we partnered with our co-host, University of Utah Health, to adapt the program to a virtual platform due to the COVID-19 pandemic. The virtual element of the event allowed for participants to join from countries across the world without the difficulty and expense of travel. Participants from Australia, England, Canada, Austria, France, Germany, India, Ireland, Kenya, the Netherlands, Norway, Pakistan, Poland, Portugal, Qatar, Serbia, Singapore, Spain, Sweden, Turkmenistan, the United States, Venezuela, and Vietnam registered to attend. All the presentations were recorded and are now available to view on our website in the 2020 RNDS Resource Center.

The RNDS began with an intro from Sandy Siegel, President of SRNA, and Dr. Jonathan Galli, neurologist at University of Utah Health and former James T. Lubin Fellow. Sandy explained, “It is a fact that you become the best advocate for your medical care by educating yourself. I know by the end of the day you will learn a great deal from all of the experts who so graciously give us their time and knowledge to help our community.” Five talks followed, each one focusing on one of the rare neuroimmune disorders: acute flaccid myelitis (AFM), acute disseminated encephalomyelitis (ADEM), transverse myelitis (TM), MOG antibody disease (MOGAD), and neuromyelitis optica spectrum disorder (NMOSD). The presentations outlined the symptoms, diagnostic criteria, and acute treatments for each disorder. The experts, Drs. Michael Sweeney, M. Mateo Paz Soldán, Stacey Clardy, Sravanthi Vegunta, and Jonathan Galli then hosted a Q&A Panel on the rare neuroimmune disorders and answered questions such as “Can I have a myelitis relapse after having transverse myelitis for 23 years?” and “If a patient who is aquaporin-4 seropositive has had one attack, which was the initial one and is attack-free for seven years, can it be treated as a monophasic NMO?”

SRNA staff members GG deFiebre and Jeremy Bennett then gave a brief update on SRNA programs, resources, and research initiatives. The next four talks were on symptom management: Pain; Spasticity and Tone; Bowel, Bladder, and Sexual Dysfunction; and Visual Issues. The experts Janet Dean, Dr. Justin Abbatemarco, Dr. Jason Poon, and Deb Nikkila then conducted a Q&A Panel on Symptom Management. They responded to questions such as, “Does an increase severity of the symptom indicate an ongoing recurrence?” and “What treatments are recommended for someone who has neurogenic bladder?”

Dr. Benjamin Greenberg gave a talk on COVID-19 and Rare Neuroimmune Disorders in which he discussed concerns specific to individuals diagnosed with a rare neuroimmune disorder and COVID-19. Dr. Greenberg gave an overview of the most up-to-date information known about COVID-19 and the rare neuroimmune disorders, and he discussed the different types of vaccine trials being conducted to prevent infection with the SARS-CoV-2 virus. Dr Greenberg noted, “As these vaccines become available, you can bet we will be doing reviews of the data, posting reviews of the data, and then encouraging a conversation around thoughts on relative safety for any of the patients and families we serve. I am hopeful we’ll get there. It just can’t come soon enough.”

Dr. Cristina Sadowsky presented the next topic, Updates in Rehabilitation in Rare Neuroimmune Disorders. She described how activity and exercise can be used as a tool for enhancing or changing neuroplasticity after a rare neuroimmune diagnosis. Next, Dr. Michael Levy discussed Long-Term Treatments for Preventing Relapses. He described the traditional therapies that have been used for NMOSD and MOGAD, as well as the three new FDA-approved treatments for NMOSD. Dr. Levy explained each of the trials that were conducted for the new treatments and compared the results. Following Dr. Levy’s presentation, Dr. Carlos Pardo gave a talk on AFM Preparedness for 2020 and Beyond. In order to prepare for AFM this year, Dr. Pardo said, “We may need to focus in many efforts, and the effort is first to make people aware about the disease, to have a better diagnosis, to establish better treatments, and perhaps to target long-term management that allows these children and families to have a better quality of life.”

After Dr. Pardo’s talk, the RNDS attendees were able to participate in break-out sessions. Topics included Imaging in Rare Neuroimmune Disorders, Stress Management and Coping, Novel Therapeutic Strategies in NMOSD, and IEPs and 504s: How to Advocate for Your Child in School. Attendees were encouraged to participate in the sessions they attended by sharing their video and microphone and interacting with the session moderators and speakers. The sessions were helpful in facilitating a conversation between the speakers and attendees. Although these sessions were not recorded, any slides that were used have been uploaded to the 2020 RNDS Resource Center.

The 2020 RNDS was closed out by Dr. Galli, who remarked, “Being a part of this community is really special, and I think the providers and the patients, who are constantly contributing just time and energy, are really amazing, and I think that’s what makes SRNA so amazing.”

We are so grateful to our co-hosts at the University of Utah who helped organize and conduct this event. Additionally, the RNDS would not have been possible without the support of our sponsors, Alexion, Genentech, and Viela Bio, and our exhibitor, Kennedy Krieger Institute. We are extremely grateful to all the speakers who volunteered their time and helped make the event a valuable experience for attendees, and we are grateful for our community partners who attended and spent time in the Exhibit booths talking to participants. Finally, we are so thankful to all the attendees of the RNDS. Without their participation, the event could not have been a success.

Announcing the First Virtual Rare Neuroimmune Disorders Symposium!

2020 has been a year of many changes. SRNA has adapted several of our programs to be conducted virtually, which has helped keep our community connected while staying safe during the COVID-19 pandemic. Although we had to make the difficult decision to cancel the in-person Rare Neuroimmune Disorders Symposium (RNDS) that was to take place in Utah this month, we are excited to announce that the RNDS will be held virtually on Saturday, August 29th! We are thrilled to still be able to offer this experience to our community as it is one of our most important and long-standing programs.

The Virtual RNDS is a one-day educational conference, hosted by the Siegel Rare Neuroimmune Association and the University of Utah Health, for those affected by rare neuroimmune disorders — Acute Disseminated Encephalomyelitis (ADEM), Acute Flaccid Myelitis (AFM), MOG Antibody Disease (MOGAD), Neuromyelitis Optica Spectrum Disorder (NMOSD), Optic Neuritis (ON), and Transverse Myelitis (TM). The conference will include speakers on a variety of topics, including presentations on each of the rare neuroimmune disorders, talks on symptom management, two Q&A panels with our experts, several breakout sessions, and more. You can find a full schedule on the event page here.

Another change this year is that the event will be free to attend! You can find details about the conference on the event page here. Please note that although the event is free, you must register in advance in order to attend. Registration for the breakout sessions is required as well, which can be done here.

Although we are disappointed that we will not get to meet in-person with our community as planned, we are excited for the advantages of using a virtual platform. We are utilizing the platform Hopin to conduct this virtual event, which provides an accessible experience for our participants. For example, members from our community across the world will now have access to attend without the hassle or cost of travel. The platform also has a tool for individuals to connect both privately and through a public chat function, which will allow for active feedback and discussion throughout the conference. We are very excited to bring our community together for this educational experience, and we hope you will join us for this event!

Questions? Please feel free to contact us at [email protected].

2020 Virtual RNDS sponsored by  

* The Executive Committee of SRNA with the medical and scientific council determines the content and topics of the event. Sponsors are not able to influence the education program.

A Recap of the 2020 AFM Virtual Symposium Parts I, II, and III

The Acute Flaccid Myelitis Working Group, Johns Hopkins Medicine, and Kennedy Krieger Institute organized a virtual symposium, Acute Flaccid Myelitis: What we have learned in order to be prepared.

AFM Awareness Month will kick off with the last session of this virtual AFM Symposium on Friday, July 10, 2020. If you haven’t attended these symposia sessions, we encourage you to sign up for the last session and review the past sessions located on our website. Take some time to review the information and perhaps learn more about your own diagnosis and the importance of advocating for yourself.

The first three parts of the symposium have covered a breadth of topics on AFM diagnosis and acute management, critical care management and understanding pathogenesis, viruses and immunity. We summarize and highlight some of the key lessons we have learned from leaders in the community who have dedicated their careers to understanding AFM and helping families and children. Over 300 people registered for this symposium. All sessions were recorded and are available on our website here.

Dr. Kevin Messacar from Children’s Hospital Colorado commenced the first session and offered an overview of our current understanding of AFM. He was followed by Rachel Scott, co-founder of the Acute Flaccid Myelitis Association (AFMA), who shared her powerful story and experience with her son Braden’s AFM diagnosis, who was diagnosed in July 2016. Dr. Janell Routh from CDC shared that the last six years of surveillance data have showed us that although we have a consistent low baseline level of AFM cases every year, something definitely changed in 2014 and we started seeing a peak of AFM cases every 2 years, mostly during late summer/early fall. This change seems to be related to the circulation of enterovirus-D68 (EV-D68). Dr. Charles Chiu at University of California San Francisco spoke about the connection between AFM and EV-D68 and EV-A71, which are viruses that were identified from respiratory secretions prior to the onset of the weakness from samples of children diagnosed with AFM. He reminded us that diagnosis in AFM is challenging, especially if we want to be able to identify the viruses in blood or other samples, as most of the time we are not able to find it in these samples. He also reminded us of the importance of creating and investing in new methods of diagnosis that are faster and more accurate. Then, the impact of social distancing measures of the COVID-19 pandemic on AFM was discussed by Dr. Bryan Grenfell and Daniel Park. It will likely delay and perhaps even increase the susceptibility of the population to the virus, with the possibility of a larger outbreak in the future.

Drs. Elizabeth Wells, Sarah Hopkins, and Leslie Benson all reiterated for pediatricians and emergency room (ER) doctors across the country to think about AFM when they see a child with weakness and emphasized for parents that if a child starts to develop any type of weakness to seek help at a major hospital ER immediately, even with the fear of the COVID pandemic. Abnormalities in the images of the spinal cord in AFM are sometimes very subtle, especially in the early phase, which could pose a challenge in getting a diagnosis. Dr. Olwen Murphy from Johns Hopkins University discussed research findings and enumerated what to look for radiologically when making a diagnosis. Dr. Roberta DeBiasi from Children’s National Medical Center highlighted key aspects for differentiating AFM from other infectious causes of flaccid weakness like Guillain-Barre and Botulism.

Dr. Jessica Carpenter from Children’s National Hospital in Washington D.C. and Dr. Rebecca Riggs from The Johns Hopkins Pediatric Intensive Care Unit shared about critical management and respiratory management of AFM. More than half of those diagnosed with AFM will require support in the intensive care unit (ICU) during the acute part of the disease, especially those who have weakness of both arms, their neck or face muscles. However, most of them also are able to quickly transition out of the ICU to a general floor. Acute respiratory failure (when the lungs cannot get enough oxygen into the blood) happens in AFM mostly due to weakness of the muscles that help us breathe, and treating this should always be a priority when AFM is suspected. While at present no medical therapies have been proven to be efficacious in AFM, Dr. Leslie Benson from Boston Children’s Hospital shared that all treatments we currently use are off-label and based on anecdotal experience. This also means that there is a lot of room for learning, with very exciting animal experiments currently being conducted. Dr. Cristina Sadowsky, one of the symposium organizers and Clinical Director of the International Center for Spinal Cord Injury at the Kennedy Krieger Institute, shared a key message that appropriate rehabilitation is the best treatment for individuals affected by AFM and early and sustained rehabilitative interventions, done safely under medical management, are essential in resuming mobility and independence. Nerve conduction and muscle studies (recordings of how electricity travels through a nerve and how a muscle responds) can be a very useful tool in AFM for diagnosis, both in telling us which muscles are likely to recover, and in pre-surgical evaluations before a nerve or tendon transfer. Dr. Matthew Elrick shared more about the neurophysiology of AFM. Meghan Moore, and Amy Bayliss, from the Johns Hopkins Pediatric Intensive Care Unit emphasized the need to engage parents in the rehabilitation process of their child very early on, starting from the ICU setting. We must never forget about the families, especially in the acute phase of the disease, where there is little control and a lot of anxiousness. Communication with families and understanding their situation is critical to success in the continued process of outpatient rehabilitation.

Dr. Richard Scheuermann at J. Craig Venter Institute at La Jolla, California delved into explaining more about EV-D68. Thanks to his research and that of many others, we now have clues pointing towards the idea that the virus has “evolved” in recent years and has acquired the ability to “attack” the spinal cord and cause AFM. Dr. William Jackson from the University of Maryland showed us how and what happens when EV-D68 infects our cells, and Dr. Amy Rosenfeld from Columbia University explained how EV-D68 is able to infect our nervous system. Understanding how the virus works inside our cells is the foundation for identifying potential therapeutic targets that could reduce the infectivity of the virus.

On the research front, several researchers shared their incredible work both in basic and clinical sciences. Dr. Kenneth Tyler from University of Colorado Anschutz Medical Campus has developed a mouse model of EV-D68 AFM. This has allowed his research team to successfully test the effect of different treatments like antiviral drugs, IVIG, and steroids on mice that have leg weakness because of EV-D68. Good animal models are an essential step in the development of treatments for any disease. Dr. Priya Duggal from Johns Hopkins Bloomberg School of Public Health has led a very important effort for the past 8 years in collecting samples and information from families across the country with the goal to better understand the genetics of the disease and find out if we are able to identify who might be at a higher risk of being affected. Dr. Cristina Cassetti from the NIAID gave us an overview of where we are with the development of a vaccine against EV-D68 that is currently in process at NIAID Vaccine Research Center. Dr. Matthew Vogt shared with us his exciting research on immunity of AFM. Dr. Vogt reminded us that although almost every adult has been exposed to EV-D68, and therefore has developed immunity against the virus (through a “neutralizing antibody”), children in the age range in which AFM is most common do not seem to possess this immunity. He is researching the possibility of being able to protect children from the disease by giving them an immune response (an antibody) against the virus. So far, he has been able to prove this in mice and is looking forward to developing it for use in humans. Dr. David Kimberlin from the University of Alabama at Birmingham spoke about the Natural History Study of AFM, a national and international effort to learn as much about AFM as fast as we can.

Drs. Benjamin Greenberg from UTSW and Ann Yeh from The Hospital for Sick Children gave inspiring talks on the importance of harmonizing all of the incredible research efforts with the reality in our hospitals and with the families, so that we can provide safe treatments and improve the care of these children. They helped us put all the pieces together from what we learned during the talks, leaving us with a very important message: we all have to adapt to the situation, but never accept it. We all need to continue working together, including the basic scientist, the physicians, the advocacy organizations and families, to improve our knowledge and the care we give to our children.

AFM Awareness Month – July 2020

As we turn the page over to the next six months of 2020, there are still many questions about the current pandemic. While the COVID-19 pandemic has dominated headlines and we continue to be extremely cautious, we understand that people still become infected with other viruses and experience other illnesses.

Acute Flaccid Myelitis (AFM) diagnoses have spiked in an every-other-year pattern since 2012. Although the actual syndrome of AFM has been around for many years, the biennial spikes are more recent developments and have been linked to the increase in circulation of particular enteroviruses (although not all AFM diagnoses are caused by enteroviruses).

Based on this every other year pattern, 2020 is a year in which these enteroviruses and, subsequently, AFM, are expected to spike again. Many have asked if public health measures that have been put in place such as social distancing, stay-at-home orders, wearing masks, and messages that reiterate the importance of handwashing and not touching one’s face will impact this spike. The answer is, it could, we hope it will, but we truly don’t know. Regardless, the public, public health officials, medical professionals, and our community need to be prepared for a potential spike in AFM diagnoses this year.

Since AFM spikes generally start in August, we’re highlighting the month of July as AFM Awareness Month. Together with our partners, the Acute Flaccid Myelitis Association (AFMA) and the support of a network of professionals, we hope to reach as many as possible with the imperative message of recognizing signs and symptoms of AFM, so an accurate and swift diagnosis may be made in order for acute treatments to be administered. We know the sooner we can detect, diagnose, and administer acute treatments, the better the potential outcomes are for those with AFM.

Why should our rare neuroimmune disorder community care about AFM Awareness Month? Because these disorders are all related. Until 2014, AFM was included under the broad umbrella of transverse myelitis (TM). There are likely many in our community who may have been diagnosed with TM, but if they were diagnosed today, they likely would receive an AFM diagnosis instead. There are distinct differences between AFM and TM, but for some, the diagnosis may be somewhere between the two, as some people experience both gray and white matter issues. There are children who are diagnosed with AFM who may need to be monitored for persistent MOG antibodies. Some cases may also involve the brain, making it important to make sure the diagnosis is not ADEM.

The few distinct differences between the rare neuroimmune disorders are largely overshadowed by the similarities between these disorders. The diagnostic tests, the imaging, the acute treatments that are administered, and the subsequent rehabilitation and long-term treatment strategies that take place for an AFM diagnosis could be nearly identical to a TM diagnosis. In ADEM, AFM, MOGAD, NMOSD, ON, and TM – we don’t have a particular treatment that we know works beyond a shadow of a doubt to stop an inflammatory attack that is happening in the central nervous system. Much of what we’ve learned in AFM to date has stemmed from what we’ve studied and known about the other disorders. What we will continue to learn from AFM will only benefit those with the other rare neuroimmune disorders. Dr. Greenberg’s talk at the 2019 Rare Neuroimmune Disorders Symposium (RNDS) was an excellent “primer” on why we should study these disorders together, why it makes sense for people with rare neuroimmune disorders to be united as a community and to support one another. AFM has always been a part of the SRNA community. AFM will continue to be a disorder for which we emphatically advocate for education, research, and support of those impacted by this rare disorder.

Show your support of the AFM and larger rare neuroimmune disorder community by sharing the AFM Awareness Month social media posts and use the Facebook frame to inform even more to #KnowAFM. Stay-tuned to SRNA social media, our blog, and events as we share stories, resources, and additional programming. Share what you learn throughout this month with your family, your friends, and even your physicians.

UK AFM Parents Day on 1st February 2020

By Lew Gray

Acute Flaccid Myelitis (AFM) has gradually spread from the USA to the UK and Europe, with cases starting to be recognised as different from transverse myelitis (TM) in 2014. Like in the USA, outbreaks in Europe seem to occur in small geographic clusters in late summer of even-numbered years 2014, 2016, and 2018. The UK government (Public Health England) has set up a working group to identify AFM cases, confirm diagnoses and recommend best treatments.

Birkdale Rehabilitation Clinic in West London, a long-time specialist in adult and pediatric TM, has led the way in adapting physio techniques like functional electrical stimulation (FES) for infants and children with AFM. Working with Kerry Wilkinson, one of the first AFM parents from Gloucester, Birkdale organised an AFM Parents Day on February 1, 2020. This was an opportunity for parents of children with AFM to meet each other in a group, ask questions and hear from experts in AFM. The Parents Day was well attended, with 24 attending, including visitors from the Netherlands and Spain.

The UK TM Society sponsored the AFM Parents Day. Videos were made of the five presentations, and these are now available in SRNA’s Resource Library and on SRNA’s YouTube channel in the UK AFM Parents Day playlist.

Dr. Ben Greenberg from UT Southwestern in Dallas, TX was the principal speaker. Dr. Greenberg was in the UK at the invitation of the British Association of Paediatric Neurologists to speak on AFM at their annual meeting in Belfast. For anyone who wants to understand AFM, which primarily affects children, was first identified in the USA in 2014, and is now seen in Europe, Dr. Greenberg’s presentation is an excellent summary of AFM and is recommended for all.

Dr. Greenberg was followed by Dr. Julia Stowe from Public Health England (this is the UK government’s equivalent of CDC in the USA). She described the work PHE has done, setting up a working group on AFM and trying to improve diagnosis and reporting of new cases in England and Wales. There are now over fifty confirmed AFM cases in the UK. Dr. Ming Lim from Evelina Children’s Hospital in London then spoke as a clinical neurologist. Dr. Lim stressed that the flaccid paralysis from AFM could be long-lasting, but there is also potential for recovery long after the diagnosis.

Mr. Tom Quick, a neurosurgeon from the Royal National Orthopedic Hospital in Stanmore, spoke on the application of established nerve transplant surgery techniques for AFM. He mentioned that sensory nerves were almost 100% normal in cases of AFM (in limited experience), so surgery could be limited to efferent nerve pathways. He also spoke of the need to develop AFM-specific outcome measures for nerve transplant surgery.

Another neurosurgeon, Ms. Lisa Atkins from John Radcliffe Hospital in Oxford, then spoke about her collaboration with the National Spinal Injury Centre at Stoke Mandeville and US neurosurgeon Dr. Mitch Seruya from Los Angeles, to adapt nerve transplant surgery for AFM. Ms. Atkins has now performed three AFM surgeries in 2019, which are currently being evaluated at NSIC for outcomes.

Mrs. Farshideh Bondarenko, founder and principal of the Birkdale Clinic, then spoke of the particular rehabilitation challenges posed by AFM and various techniques Birkdale Clinic has been applying. Illustrated with plenty of photos and videos of practical rehabilitation, this long final session was valuable for all the AFM parents.

SRNA at the 2020 Reeve Summit

The Siegel Rare Neuroimmune Association (SRNA) was proud to be an exhibitor at the 2020 Reeve Summit in Washington, D.C. on February 26th-29th. SRNA staff members GG deFiebre, Krissy Dilger, and Chitra Krishnan attended the Summit, which was hosted by the Christopher and Dana Reeve Foundation. The goal of the Summit was to “bring together the paralysis community, key thought leaders, and individuals who have had an extraordinary impact on the lives of people with paralysis and related disabilities.” Throughout the event, SRNA made meaningful connections with medical professionals, individuals who are diagnosed and their caregivers, and advocates of people with disabilities.

One of the important highlights of the event was the need for better laws and regulations surrounding disability rights, such as workplace accommodations, healthcare, benefits, and accessibility. A panel on “Tools for Navigating Employment and Benefits” taught us about the work of the National Disability Rights Network, the U.S. Department of Labor’s Office of Disability Employment Policy, and the National Council on Independent Living. One takeaway point of the discussion was that disability benefits are a snapshot in time and can change depending on the individual’s needs. Another takeaway was that employment can be an empowering tool for people with disabilities, but it can be difficult to obtain without losing benefits; however, there are programs and resources for navigating employment without immediately losing benefits. By attending the session, we learned new tools to help our community navigate these challenges, and we hope to cover these topics further in future “Ask the Expert” podcasts.

Senator Tom Harkin gave the keynote address during lunch on the second day of the Summit. Senator Harkin served in the U.S. Senate beginning in 1984 and retired in 2015. Throughout his tenure, he championed the cause of disability rights and changed the lives of people with disabilities in the U.S. by taking a key role in crafting the Americans with Disabilities Act (ADA). During Senator Harkin’s speech, he emphasized, “While a cure is important, we need to keep the promises of the ADA to those living with disabilities.” Senator Harkin encouraged everyone to take an active role in advocating for disability rights, starting with voting for candidates who can effect change for people with disabilities on the local, state, and federal levels.

Another important takeaway from the Summit was the Reeve Foundation’s explanation of their Quality of Life grants. SRNA is thankful to be a recipient of this grant for our 2019 Family Camp, which took place in July of last year. Through the Quality of Life grant, we were able to apply $25,000 toward allowing thirty-four families to experience the joys of summer camp and learn from experts in the rare neuroimmune disorders. During the Reeve Summit, we learned about the process of applying for the grant and how best to report outcomes from the project. We hope to be a recipient of the Quality of Life grant in the future.

Finally, an important part of the Summit was hearing the stories of the attendees whose lives have been impacted by disabilities. Cody Unser was diagnosed with transverse myelitis at eleven years old and has been paralyzed ever since. During the Summit, she spoke about her decision to start the Cody Unser First Step Foundation to raise funds for research, public awareness, and quality of life for those with spinal cord-related paralysis. Cody chose to start with scuba diving, and through her foundation, she has helped countless people with spinal cord injuries enjoy the sport of scuba diving. On the second day of the Summit, keynote speaker Robin Roberts of Good Morning America allowed attendees throughout the room to share their stories. We heard stories from people whose lives have been affected by paralysis, and we learned about the challenges they continue to overcome. It was an enlightening moment that highlighted the power of sharing stories to facilitate understanding of the disability community’s needs.

Altogether, the Reeve Summit was a unique experience, bringing together members of the disability community to learn from each other and work toward common goals. SRNA hopes to partner with the Christopher and Dana Reeve Foundation for future projects that will benefit individuals with rare neuroimmune disorders.

The 2019 Illinois Walk-Run-N-Roll

A week of rain threatened to derail the 2019 Illinois Walk-Run-N-Roll. Willow Stream Park became aptly named as parts of it became flooded. Fortunately, the sun came out, the ground dried up, and more than 150 participants enjoyed a day of awareness, activities, and remembrance.

As people arrived, they were greeted by the energetic sounds of DJ T-Y, who provided the soundtrack for the event. Stories of those diagnosed with rare neuroimmune disorders hung from clotheslines stretched under the pavilion. Emcee Bill Shaner kept the crowd informed by reading off statistics about each disorder. The Jesse White Tumblers, who attended last year’s walk, entertained once again with their amazing tumbling act. A cheering section helped urge the walkers over the finish line with words of encouragement. Bruce Mondschain and Larry Schaefer documented everything with their wonderful photography. Synergy Adaptive Athletics provided wheelchairs for folks to try their hand at some wheelchair basketball. Finally, a short program reminded everyone of those we have lost due to these disorders and why research and fundraising is so critical.

We want to thank the 2019 co-chairs (Nancy Dove, Debbie Bertolami, and Barbara Williams), the volunteers (Liz, John, and the Beutel family; Agnes Policarpio; Carol and John Carney; Jean Alletag; Jon Kartman; Irma and Kevin Dixler; Dan and Ann Bruch; Barbara Ray; and all who helped), and the sponsors (Viela Bio, Mark Drugs, University Associates in Dentistry, Coloplast, DuPage Acupuncture Clinic, Pepsico, and Sheridan Road Financial) who made this event possible. We want to thank anyone who fundraised or donated. Due to all of you, the 2019 Illinois Walk-Run-N-Roll raised more than $13,000! We also want to thank everyone who attended, brought a friend, shared the event on social media, gave a hug or words of encouragement to another attendee, picked up trash, moved a table, or said hi to someone new to our community.

If you have questions about our fundraising events or are interested in organizing a Walk-Run-N-Roll, please contact Jeremy Bennett at [email protected].

Inspiration on the National Mall

By Julie Lefelar

Tanisha Willis is a determined woman. She also has Neuromyelitis Optica (NMO) and Lupus. Don’t be fooled by the notion that she has two debilitating autoimmune disorders; she inspires us all. When she came to me and Cynthia Albright to organize a walk on the National Mall in Washington D.C., we both were a little hesitant. We were worried that we would not be able to pull it off. Little did we know that Tanisha knew better. It was a fabulous idea.

This past September, with the help of TMA, now SRNA, we got up very early in the morning and traveled to the beautiful and historic Constitution Gardens, surrounded by so many of our nation’s coveted landmarks. It was the perfect place to gather with our peers in this journey with rare neuroimmune disorders. We were blessed with a sunny, perfectly temperate day, a tranquil pond full of ducks and geese cutting through the glass-like water, dipping their bills rhythmically almost in unison, and the majestic Washington Monument rising above the trees to remind us that we were, in fact, in one of the most photographed areas in the U.S.  There was a wonderful turnout of people of all ages, some with their furry friends in tow, ready to use their voices and let everyone know that they stand up against the unwelcome visitor who has invaded their lives. With everyone happy and thankful for the medical professionals who help them live as normally as they can, the energy was remarkable.

Our morning started with some words of inspiration by Tanisha, then transitioned to Jeremy Bennett from SRNA who always provides us with the latest SRNA news and lets us know that what we do as volunteers is of immense importance. Our special guest speaker and favorite rock-star doctor, Dr. Michael Levy, who came all the way from Boston, gave a fantastic speech that let us know that the medical community is fighting very hard on our behalf. Then our musical guests, the Dream Team, gave the whole event a reggae vibe as we started our walk. Naturally, in her usual form, Tanisha recorded the walk on her phone as she experienced it live, streaming online for all to see with commentary that was equally fun. We had the promise of a big basket of cookies as motivation to show the best spirit and our guests did not disappoint. We had so much fun passing out door prizes as well and everyone, regardless of whether they won a prize, left much richer with new connections and friends, some from as far as Canada!

We can’t thank our sponsors enough: The MOG Project who sponsored our walk by holding a huge t-shirt drive, Tanisha’s church, The Miracle Center of Faith, Missionary Baptist Church, who reached deeply into their pockets to make sure this event was a huge success, as well as Merle Norman of Olney, Maryland for the fantastic door prizes. We had such great volunteers as well, and we thank the families and friends of the organizers, as well as those from SRNA who have supported us consistently. We walked away thinking that we can’t wait to do it again. It was indeed a good day.

Recap of the 2019 Rare Neuroimmune Disorders Symposium (RNDS)

On September 19-21, over 200 of our community members gathered in Columbus, Ohio, to participate in the 2019 Rare Neuroimmune Disorders Symposium (RNDS). Our biennial symposium is a pivotal program for the education and research of rare neuroimmune disorders. During this year’s event, we celebrated the Transverse Myelitis Association’s twenty-fifth anniversary and made an exciting announcement: we’re changing our name! After twenty-five years of growth and progress, SRNA is becoming the Siegel Rare Neuroimmune Association or SRNA.

SRNA President and Founder, Sandy Siegel, and SRNA Board Member, Dr. Benjamin Greenberg, began the conference with the name change announcement. They explained how SRNA is a better representation of the inclusivity and power of our organization. Dr. Greenberg remarked, “The Board, for the last seven years, has recognized that our name was outdated. The Siegel Rare Neuroimmune Association, as a title, did not represent who we were as an organization or who we were as a community… Together, as a community, we are stronger when we all live under one tent.” You can view Sandy and Dr. Greenberg’s talk here.

Following the name change announcement, members of our community who live with each of the rare neuroimmune disorders shared their stories and personal experiences with attendees. The panel provided insight into the different diagnoses, demonstrated the impact these disorders have on them and their families, and overall allowed event participants to connect and identify with others. You can view the member panel recording here.

Dr. Greenberg’s next presentation, “Stronger Together,” demonstrated how each of the rare neuroimmune disorders is connected and the benefit of studying them collectively. Sessions on the diagnosis and treatment of each of the rare neuroimmune disorders followed: transverse myelitis (TM), acute flaccid myelitis (AFM), MOG antibody disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD), and acute disseminated encephalomyelitis (ADEM).

After a midday break, sessions continued on Recurrent vs. Monophasic Disorders, Vascular Myelopathies, Myelitis in Systemic Rheumatologic Conditions, and Updates from SRNA. We then heard from a panel of experts on The Future of NMOSD Therapeutics: What Have We Learned? Participants included Drs. Michael Levy and Benjamin Greenberg, two members of SRNA’s Medical and Scientific Council, as well as Dr. Ankur Bhambri of Alexion Pharmaceuticals and Dr. Eliezer Katz of Viela Bio. They discussed recent developments and new medications for the treatment of NMOSD. We ended the first day of the conference with workgroup sessions on Finding Medical Care in Your Area, IEPs and 504s, and ADA, Disability, and Benefits.

The second day of the conference began with talks on research. Dr. Cristina Sadowsky presented on Rehabilitation. We then heard about research on the upcoming stem cell trial to repair the spinal cord in patients with TM and a study investigating a genetic link in individuals with TM. Next, a panel consisting of medical researchers, a member of Centers for Disease Control and Prevention (CDC), and a member of the National Institute of Health (NIH) convened to discuss AFM and the urgent health need to address this growing concern. The panel spoke about their collaborative efforts to begin a multicenter, national research study on AFM with funding from NIH, as well as CDC’s efforts to better address this growing concern. You can view the recording here.

The second half of the day began with presentations on symptom management. Talks continued on Spasticity, Urological Issues, Fatigue, Cognitive Issues, and Pain, Numbness, and Tingling. We learned from Nadia Barakat, PhD, about new imaging techniques for the diagnosis and understanding of rare neuroimmune disorders, which you can view here. Maureen A. Mealy, PhD, RN, BSN, MSCN gave us an update on New Trends in Pain Management, and Anjali Forber-Pratt, PhD presented her research, “How is disability identity formed?” We then heard from a panel of medical experts on Pregnancy and Rare Neuroimmune Diagnoses, followed by a talk on Bowel Management Strategies by Janet Dean, MS, RN, CRRN, CRNP, CRND.

Finally, to close out the day, we heard from four of the James T. Lubin Fellows about their ongoing research and allowed for an open question-and-answer session, which you can view here. SRNA Board Member Dr. Carlos Pardo-Villamizar gave Closing Remarks and rounded out the end of the conference.

The 2019 RNDS was altogether an enriching and successful event. There was palpable energy surrounding the participants as a gathering this large of members of our rare disease community is powerful and unique. You can view the entirety of the talks from the 2019 RNDS in our Resource Library here. If you were unable to attend the event, please stay tuned for the announcement of our next symposium. We hope to see you there!