End the Legacy Updates
Fall 2024 Update
Winter 2024/2025 Update
Notes from the ED
We hear it constantly - people are amazed to connect with others in the same position. All our families have heard for generations is how rare being impacted by inherited ALS and FTD is. Now, through our collective efforts that feeling is gone. We are so proud to provide the space and opportunity for this transformational connection.
Ensuring our diseases are set up for the best possible outcome by the most aggressive testing of possible therapeutics at all disease stages is a perspective we must bring to any gathering of ideas for ALS and FTD.
Building community and being in person have costs associated, and we are so thrilled two generous foundations allowed us to conduct a successful matching campaign to close 2024. We must continue to support this work financially if we want it to continue.
Finally, a huge shout of appreciation to the many volunteers of End the Legacy driving so many of our efforts forward. If you see a name you recognize below please reach out and thank them!
In Solidarity
Jean Swidler
EndtheLegacy.org
Education
Guidance Webinar
Following the publication of the first ever historic guidance for the at risk genetic ALS and FTD community in 2024, we were proud and grateful to host the reports lead authors Drs Benatar and Heiman-Patterson for the first informational webinar on this important topic. Watch the video here, with subtitles in French, Spanish, German and Italian.
Genetic Education
In February we debuted a new service: Genetic Counselling Education by a licensed genetic counselor. These free sessions allow impacted community members to learn important information about genetic counselling and testing without creating a medical record. Visit here to learn more and sign up.
Support
Summit
Our community was desperate for a space where being at risk for genetic ALS and FTD was the norm and not an outlier. We created that with our first community summit in 2024 and we are hard at work getting our June 2025 event in Philadelphia ready! Cheers to organizing committee members Kerri, Stephen, Lauren, Betsy, Mindy, Debbie, Jary and Wanda and our support from the local host ALS Hope Foundation Brittny and Jamey.
Anyone impacted by inherited ALS or FTD is invited to attend, and all impacted attendees will have full conference attendance and hotel for 2 nights for a nominal registration fee. Travel subsidies are available. Learn more and register here!
Meetings
Our community team meetings are the heartbeat of our movement. A time for relationships to build and plans to be discussed and news to be shared. We have formalized a 2x monthly meeting structure with times friendly for participants around the world. The current times at 9am US Pacific time the 2nd and 4th Friday of each mont, 3pm UTC/GMT time the 2nd and 4th Thursday of each month, and 2nd and 4th Wednesday 5:30pm Australian Eastern time. To get involved in our community meetings email info@endthelegacy.org
Peer Support
Our peer support effort is going strong thanks to the dedication of our amazing volunteer peer facilitators Mindy, Carolyn, and Lauren. Cheers! To sign up to attend our monthly peer support hour which is the 3rd Wednesday of the month at 3pm Pacific time visit here.
Advocacy
ALS MND Symposium
We were so proud to attend the largest annual ALS MND research conference in the world this past December in Montreal. Our own Cassandra Haddad appeared on panel about presymptomatic research in a packed auditorium. Our own Mindy Uhrlaub took lead presenting our poster on existing information to guide at risk monitoring to dozens of fellow attendees. You can see the poster here. We also participated in many important conversations over the few days. Most importantly connections were made with genetic advocates from across the world !
Genetic Non Discrimination
The issue of advancing genetic protections is not going away. While we feel a federal solution is the best outcome we support state level improvements. To that end End the Legacy advocates are involved across the country supporting these efforts including in Nebraska and South Carolina by member Bill - his member spotlight interview is below! Efforts are also being made with large coalitions in Illinois, New York, and Maryland.
Federal Efforts
We are proud to ensure our communities voice is heard on matters of importance to us at the Federal level in the US. We attended the annual More Than Our Stories conference in February and called on the offices of a few Senators while in town. We are working to support a broad coalition call for adequate research funding and are planning to support joint letters. Expect more news on this soon!
Mindy Interview
Mindy Uhrlaub just had a in depth interview published on the ALS focused "I'm Dying To Tell You" podcast - listen to it here!
Care
The first dedicated at risk genetic ALS and FTD clinic recognized by End the Legacy as a center for our community is continuing at Temple Neurology. We are in talks to bring this method of care at sites across the country. If you are interested in this effort email us at info@endthelegacy.org
Research
Advising CDC
We cheer the addition of the at risk community as a nexus of the CDC ALS Registry. We have provided vital input in early stages and are currently gathering community feedback at our next community meetings the 2nd week of March.
Adding Studies
Our recruiting studies section has a few new studies: Everything ALS has a remote study, and ALL ALS has more prevent sites activated in the US.
Survey Planning
We have a dedicated team working hard to develop a survey to gauge community input on the new monitoring guidance. Cheers to Daniel, Jary, Wanda, Cassandra, Mindy and Nadia for your hard work! Look for more on this in the coming months.
Member Spotlight - Bill , interviewed by Mindy Uhrlaub
1. What is your connection to Familial ALS/FTD?
My story begins when I was twenty years old. I was the seventh of eight kids. Around age 65, after his limp would not improve, my dad told us that he had been diagnosed with ALS. This news made us anxious because his dad had died of what we thought was ALS as well. There was no other history of ALS in the family. He died on September 30, 1987, when he was 67. We discussed this obvious connection with his neurologist who told us that Dad had sporadic ALS and that his connection to his dad was a freak of nature; really bad luck.
Believing that Dad’s case was sporadic, all the kids continued to live our lives as we planned. Personally, I questioned the assessment that the coincidence was sporadic, so I saw a neurologist about every five years. My birth order gave me peace of mind. My older siblings were likely to develop ALS before I would, and I could rest easy if none of them developed ALS.
In early 2016, my sister began exhibiting forgetfulness and showing a significant cognitive decline. She was diagnosed by her family doctor with Alzheimer’s. Her condition continued to deteriorate, and without knowing that there might be a family history, the Hospice caretaker said that her late symptoms resembled ALS. This was unusual, I thought, because she did not have ALS. Whew! She died on December 14, 2019, at age 71.
All changed in July 2020, after my older brother gave me a call in the evening. We talked business for a little and at the conclusion of the call, he said he had something else to mention. He then told me that he had ALS and that the gene mutation identified was C9orf72. My mind was blown and overwhelmed! What is C9orf72? I went straight to Google for the answers and dreaded the result I found.
I contacted my General Practitioner for a referral to an ALS specialist. She referred me to an ALS Neurologist in Charlotte, NC, who ordered a genetic test. Four weeks later, I received a phone call from the doctor. I was positive for the same thing as my brother, and presumably, as my father and grandfather! The weight of the world rested on my shoulders. How do I tell my kids? What do I tell my grandkids? How do I plan?
I first told my oldest son that his uncle had ALS. Within 24 hours, he put the connection together that ALS ran in the family and he asked about me. I told him I was positive for C9. I stressed that with the explosion of research, a cure was likely to be found before he’d be at risk. I then told my daughter. She works in the medical field and immediately put the connection together. ALS ran in the family, and I had the defect. She knew she had a 50/50 chance, and if she tested positive, her kids each had a 50% chance. I told my other two sons who soon understood that they were at risk.
I then received an email from my brother-in-law in Namibia, telling me that my sister had been acting very strangely and needed full-time care. She was diagnosed with Alzheimer’s and soon was institutionalized in a great facility in Swakopmund. I made plans to visit before she passed. I posed the C9 connection to her caretakers, but the concern never materialized, and she never received any genetic testing. However, I’m certain that it was bvFTD that took her life on August 1, 2023, at age 75.
Of the eight children who are at risk, four tested negative for the C9 repeat, two are certain positive for the C9 repeat, and two were never tested and presumed positive for C9.
2. How does knowing your genetic status affect you?
I’m 60 years old and know that the average age of disease onset is 58 in the United States. Penetrance is the question with which I wrestle. What is my likelihood of developing ALS or FTD? My neurologist says it’s 100%. I’ve taken this knowledge to plan for my significant care by purchasing property that adjoins my daughter’s property to assist my wife with care if and when needed.
Coping with this is critical. It could easily drive me crazy, but my Christian faith anchors me. As a Christian, I am not my own, but given to Christ. My body is His to do with as He pleases. I accept His plan because He has changed my life and made me a new creation.
3. Short of a cure, what is your hope for people impacted by Genetic FTD/ALS?
I appreciate the value of End the Legacy, advocating for those at risk for genetic ALS and FTD. Having our voices heard is important to the medical community, pharmaceutical community, research community, regulatory community and legislative community.
Eliminating insurance discrimination in the United States is important to me and I often assist in efforts to outlaw genetic discrimination. We were successful in introducing South Carolina House Bill 4218 last term that would outlaw genetic discrimination in the purchase of life, disability and long-term care insurance policies. Although it did not pass, we hope that we can make more progress in the future.
4. Tell us a fun fact about yourself.
Interestingly, antagonists of C9 patients say that we should not hold responsible professions like airplane pilot or air traffic controller. I’m proud to say that I am a pilot and former plane owner. Some of my greatest joys were in the cockpit of an airplane where I volunteered my time and plane to ferry patients to treatment centers who could not afford the transport for medical care at no cost to them.
Fall 2024 Update
Notes from the ED
This fall has been a busy and impactful time for End the Legacy, and we are incredibly proud of all we’ve accomplished together. The efforts and milestones detailed below reflect our collective work toward a better future for families facing ALS and FTD. If our mission resonates with you, we invite you to consider supporting this important work. Your donation will have twice the impact with a 2-for-1 matching opportunity—learn more about this special challenge here.
As a small organization, we rely on the support of our community to continue our essential work. Without your generosity, we won’t be able to move forward.
* * * * * * * * * * * * * * * *
If you believe in the importance of timely ALS and FTD diagnoses, we hope you will find inspiration in our latest Care updates. What a change this care would have made for so many of our loved ones.
If you value the dignity of every family, we believe our advocacy updates will resonate with you - especially our reporting on concerns from ISFTD. Researchers there declared all people with C9orf72 expansions, for life, are “significantly cognitively impaired.” This from results that showed c9orf72 carriers scoring within normal ranges, if mildly lower then controls and the knowledge that our families have been stellar members of our communities. A key concept of research is that statistical significance is not the same as actual significance.
If you think community breeds comfort, check our support section. We are coming back together in person in 2025 and hope you can join us!
If you want to make progress and impact on disease care and treatment, see our research updates - there are new sites for longitudinal studies and valuable perspectives from our community.
If you believe we deserve to know what is being published about us, consider our education updates, which include revamped web pages and new webinars.
And finally, if you want to connect with the real human cost of these diseases and the strength of our families read the Member Spotlight interview at the end.
It’s a lot, but so is the mission of our team!
In Solidarity,
Jean Swidler
End the Legacy Executive Director
Care
We are proud to have pioneered the concept that the personal health of those at risk of genetic ALS and FTD should consider that risk. See our new web page detailing that priority here.
A signature achievement since our founding was helping to inspire, sponsor, participate, and assist in the drafting of the 2024 Review article published in the Journal of Neurology, Neurosurgery and Psychiatry just a few days ago. The project, led by Drs Michael Benatar and Terry Heiman-Patterson, established for the first time that being monitored while at risk for genetic ALS and FTD is sound and recommended if desired. Other recommendations related to exercise, diet, and more are contained in the report. ETL paid for the open access fee, so all can read this groundbreaking development: https://doi.org/10.1136/jnnp-2024-334339 .
We are also proud to share the first End the Legacy Center of Compassion for those at risk of genetic ALS and FTD is open and seeing patients! Congratulations to the team at ALS Hope Foundation and Temple Neurology for this momentous development. To learn more email cassandra.haddad@temple.edu .
Research
In September, our small organization attended the International Society for Frontotemporal Dementia meeting in Amsterdam. This premiere gathering for FTD science was the perfect place for ETL members Jean, Jary, and Daniel to debut a poster on the issue of using loved ones as behavioral and cognitive informants in research and care for healthy individuals at genetic risk for FTD entitled “Informants (Study Partners) in asymptomatic FTD research: Highlighting uncharacterized & uncommunicated potential risk.” See it here.
We are proud to help ensure members of our community know what research is available for them to participate in, and to promote and encourage research that could benefit our community. In this vein, we were excited to share the news many more sites of the new Prevent ALL ALS national USA study for those at risk of genetic ALS went live. Our Executive Director is proud to serve as a patient advisor to the effort. See where you could be seen for this longitudinal study and others here.
We have been disappointed by the setbacks and repeated failures in ALS drug development over the years. As individuals whose personal health is deeply implicated in the endeavor to cure or slow this terrible disease, we proffered some simple requests to increase the odds of success in trials testing new therapeutics (beyond trying them earlier in the disease). Read it here.
Advocacy
Ensuring the perspectives and needs of our community is heard loud and clear is a key area of our mission. This fall we delivered on this resoundingly: We attended, listened intently and spoke up when needed at the bi-annual International Society for Frontal Temporal Dementia meeting. You can see more about what we accomplished at the meeting here.
Our own Cassandra Haddad spoke in the main plenary for the Northeast ALS Consortium Conference this October. See her inspiring remarks here.
The amazing Wanda Smith organized a genetic community outreach table at a large Alzheimer’s walk in San Diego she was joined by representatives from For Their Thoughts, AFTD, Cure VCP , and End the Legacy board member Nadia Sethi. Go Team!
A dedicated team member, Bill, was interviewed for this in-depth article on genetic non-discrimination in the Atlantic Monthly. His efforts with others and End the Legacy continue to pass legislation barring genetic discrimination in insurance products in South Carolina. Go Bill!
Education
Ensuring our community is up to date on important news and information related to our risk is a pillar of our organization we are so proud of. That continued this fall.
We ensured the great expense related to allowing us to attend the ISFTD meeting in Europe was well justified by reporting out to all those interested highlights for those impacted by genetic ALS and FTD. Read about it here.
Since our founding we have been bringing updates straight from the source with informative webinars with esteemed clinicians and researchers freely accessible. This fall we debuted a new web format for seeing our archive easily here.
We hosted two fascinating and important webinars this fall - one a genetic research education series installment focused on TARDPB, and one with the author of a recent publication establishing a method to calculate family-specific penetrance rates for C9orf72 kindreds. Both are available on our webinar page.
Our genetic information guide for C9orf72 was updated as well. See it here.
Support
Our weekly meetings and monthly peer support hours have been continuing - we cheer all who participate!
Following on the heels of our first in-person event in 2024, our 2025 End the Legacy Genetic ALS & FTD Community Summit has been announced for June 6-8th in Philadelphia with local hosts the ALS Hope Foundation and Temple Neurology! To learn more, email info@endthelegacy.org . Subsidies for travel will be available for impacted community members.
Member Spotlight Interview with Maureen Whitmore by Mindy Uhrlaub
1. What is your connection to ALS/FTD?
I am very new to this journey of understanding and advocating for ALS/FTD. Dating back to the 1970's and most likely before that, my family has been deeply impacted by C9orf72 gene. I am the eldest of nine, and my paternal grandmother was one of 12. Our family's ALS journey began with her father's side, although we only recently discovered that. We did not learn we carry the C9 gene until a year ago. I now ask myself how could that be with all the evidence before us? My grandmother was born in 1905 and died of TB shortly after my father's birth in 1929. My Dad was estranged from his mom's family, and we did not know about ALS in my grandmother's family until my 63-year-old brother died of ALS nearly six years ago. Nine of her family members, including siblings, nieces, nephews and cousins had died from ALS. No one on that side of the family has been tested for the gene. My Dad died in 1998 of meningitis at 69 and showed no signs of ALS.
My first exposure to ALS was when my brother was diagnosed during autopsy. We suspected he had ALS toward the end of his life, but it was never confirmed. He did participate in an NIH-funded study at Boston University for Chronic Traumatic Encephalopathy, and they confirmed a stage 3 diagnosis of CTE but never mentioned ALS until he had a comprehensive neuropathological study of his brain. Shortly after that, I lost one of my close friends to ALS. Her father had died of ALS as well. I had to bid farewell to another brother four years ago, and like my first brother, the ALS diagnosis came late and again it wasn’t formally diagnosed until he donated his brain to the Boston University study. He had many unnecessary surgeries on his spine and his arms for ulnar nerve and carpel tunnel syndrome. When his symptoms did not improve, he had an EMG that reflected the possibility of ALS. He too had stage 3 CTE found on autopsy. He’d been having trouble walking and suffered a brain hemorrhage and broken nose during a fall. When he went to have his nose surgically repaired, he died while being induced with anesthesia. Before his death and in an attempt to get him to a multidisciplinary ALS team, I was put in touch with I AM ALS and Synapticure. He died before we could keep an appointment with Barrow Neurological Institute in Phoenix.
By now, we knew that our family carried a genetic form of ALS. And yet, no one pursued genetic testing until late 2023. My sister-in-law contacted me expressing concerns about my youngest brother (59) and wanted him genetically tested. He agreed, and in early 2024, we discovered he carries the C9orf72 gene. He saw a neurologist who determined he was asymptomatic. In May of 2024, my 67-year-old sister was diagnosed through EMG and genetic testing to have ALS. She is fortunately involved in a multidisciplinary ALS program and is the first in our family to receive an earlier intervention. Two more of my siblings have died of causes unrelated to ALS, but based on some behavioral issues they exhibited, I wonder if they may have had FTD.
2. Did knowing your genetic test results change anything for you? Now that you know your genetic status, what's next?
After my brother tested positive, it took me nearly eight months to submit my saliva. Honestly, I knew about the availability of genetic testing after my brother died three years ago. It was a very scary decision for me. I was anxious and thought for sure I had ALS and would pass this on to my three sons and eight grandchildren. Then I’d rationalize that I did not have it because I’m 73 with no symptoms. Every time I got a muscle cramp or had trouble finding a word I’d be thrown into fear and anxiety. I decided to get tested after engaging in many conversations with people involved in End The Legacy and NextGEN ALS. Being uncertain was taking a toll on my mental health. I also recognized that getting tested was one more step I could take in contributing to the efforts to learn more about this disease and eventually find a cure. When I found out I did not carry the gene, my emotions were all over the map. I expressed a huge sigh of relief for my sons and their families. I’d been “waiting to exhale" before my genetic counselor gave me the results. It was like "tearing off the band aid." I felt sadness and "survivors’ guilt" in relation to the rest of my family who may or may not carry the gene and for my sister who is active in her journey. If my parents were alive, they would have 24 grandchildren and 30 great-grandchildren. ALS will impact all of them in some way over time, either as a carrier or a caregiver. My goal all along has been to make sure they understand what this means for them and to connect them with the resources to help them weather the storm brought on by ALS. I plan to be active in advocacy work and research. Denial, which I know I practiced, is no longer an option. I feel very much a part of the ALS community. I hope my story will help others on the fence make the decision to get tested.
3.Tell us something about yourself that we don't already know.
I started my career as a special education teacher and then went on to get my MA in Rehabilitation Counseling. I was licensed as a marriage and family therapist in 1980 and just recently retired my license. I worked for over 20 years at a large HMO (Kaiser Permanente) in Employee Assistance and then as a Healthcare Ombudsman Mediator. In that role, I helped facilitate communication and resolution when healthcare outcomes raised questions and concerns. I retired eleven years ago but still keep my connection as an Ombudsman by covering for my colleagues every so often.
In 2001, some of my colleagues and I were given the opportunity by Service Employees International Union and Kaiser Permanente to provide Critical Incident Stress Debriefing for the healthcare workers who witnessed the horror of 9/11 right after the towers collapsed and who provided care to the wounded. We left with trepidation from California right after the airspace reopened. It was an honor and privilege in such a traumatic time in our country's history.
I keep very busy in retirement. I’m an avid swimmer and love being in the water. I dabble in watercolor and oil painting. Our grandkids, who range in age from five to 15, keep us very busy in all things sports, sleepovers, and babysitting. We also help care for three grand-dogs. My husband of 45 years and I love to travel. Italy and Ireland are by far my favorites. We took a road trip in October have a trip to Japan planned in November. I’m originally from Chicago, and most of my family is there. I often travel back there for family events and reunions. Family togetherness is very important to me.
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Summer 2024 Update
Support & Community Engagement
Support Hour / Meetings
Through the dedication of a new volunteer team of peer facilitators, our monthly peer support hour program is going strong. A special shout-out to our August facilitator, Carolyn! To sign up to attend, please visit here.
Our weekly meetings continue to draw dozens each week to connect and share perspectives on issues important to us. Email info@endthelegacy.org if you would like to join our weekly meeting list. Even if you can’t make the Friday meeting at 9 am Pacific, we send out detailed notes- often with the assistance of volunteer note keeper Jesse. Cheers to her for the brilliant summaries!
Planning for In-Person Next Year
We are still glowing thinking of the amazing weekend in June when we had our first in-person gathering in partnership with many generous allies. We are starting planning for next year’s event in 2025 - join our weekly meetings to weigh in on planning if you would like to be involved! See this wonderful social media video of our June event created by Rod Malloy.
End the Legacy Board Addition
We are so pleased to announce that the accomplished ALS advocate, Dr. Nadia Sethi, has joined our End the Legacy Board. Nadia was a caregiver for her late husband who had TARDBP ALS. She had this to say “Genetic ALS & FTD: End the Legacy is an organization close to my heart. End the Legacy advocates for those genetically at risk or affected by ALS and FTD, driving advancements in care and research that benefit everyone facing these diseases. They've made remarkable strides in amplifying the voices of this community and encouraging vital research and care.” This increases the number of pathogenic variants our board personally represents to 4.
Advocacy
Mindy Keynote
Our own amazing author and advocate Mindy Uhrlaub provided a prominent key-note address discussing the position of being at risk for genetic ALS and FTD at the 2024 National Institute of Neurological Disorders and Stroke annual Non-Profit Forum. Go Mindy!
Convo with Mark Harrington
Like all patient advocates, we take inspiration from the HIV/ AIDS movement and especially those who participated in ACT UP and Treatment Action Group (TAG). We shared a recorded conversation between noted HIV Advocate and patient researcher Mark Harrington and our own Jean Swidler. Watch here as they compare notes about different diseases but with similar stakes.
Testimony on Adcoms
A debate is occurring within and outside the Food and Drug Administration about the role of Advisory Committee Meetings in the drug approval process. Jean shared at a public hearing that “Ad-Comm” votes wrongly imply that the FDA serves the academic heavy advisory committees. While the academic field do provide the expertise of science, the FDA must balance that view with responsibilities to the people as a government agency. Their special role must not be compromised. Jean will be attending a special meeting held by the American Federation of Scientists on the topic later this month. You can view her comments from the Ad-Comm on Ad-Comms here.
ALS Nexus
The ALS Association held their first ALS Nexus event brining together many different ALS stakeholders in July. Jean spoke on a panel along with Shelby and Stacey Kinsey about the broad effort to push Bluecross BlueSheild to cover Tofersen for Shelby. Cheers to the Association for the success of the event.
Take ETL Out to the Ballgame
End the Legacy had a spotlight at a Sacramento Baseball game due to Rod Malloy who shared about the group in a special interview broadcast to the whole stadium! Cheers Rod!
Education
Tardbp Webinar Thursday September 12th
Our 2024 Genetic Research Education Series continues with another session focused on the genetic variant of TARDBP which encodes the protien TDP-43. Hear from Dr Neil Shneider and genetic counselor Elizabeth Harrington from Columbia University about research available for those impacted by TARDBP , and from people with the variant about how participating in research fits into their life. The event will be held this Thursday the 12th at 5:30pm Eastern. Sign up here.
NASEM Report Webinar
In July we hosted a wonderful talk reviewing the recently released National Academies of Science report on “Making ALS Livable “ with speakers who participated in the development of the report including the amazing Mindy and Dr Rita Sattler. Watch it here.
ALS ONE Biomarker Panel
Jean was honored to be invited to participate in an August panel discussion on biomarkers in ALS by ALS ONE for their Research Publication Review meeting. The presentation can be viewed here .
Research
ALL ALS Prevention Study Recruiting
We are pleased to share that there is a new location and area of the country being served by a longitudinal study for those at risk of genetic ALS. The Prevent ALS arm of the ALL ALS study has begun recruiting at Barrow Neurological Institute in Arizona. See more details on our recruiting studies page.
ISFTD
Jean will be attending and presenting a poster at the bi-annual International Society for Frontal Temporal Dementia symposium in Amsterdam the week of September 16th. Following the poster session we will share the poster, on the topic of possible risks of the use of informants in studies of those at genetic risk of FTD. Jary and Daniel are additional authors on the poster. Cheers to them all!
Australia Research Symposium
All meetings discussing ALS and FTD should have public representatives impacted by genetic ALS and FTD. End the Legacy was proud to provide some small financial support to allow research librarian Taryn Hunt from a family impacted by genetic ALS to attend the 2024 MND Austrailia Research Symposium. She had a warm welcome and shared reflections on the experience here. Go Taryn!
Member Spotlight Michael Cosgray - Interview by Mindy Uhrlaub
1. What is your connection to ALS/FTD?
My connection to ALS goes all the way back to 1970. My grandfather first noticed he
was having difficulty gripping a golf club the day before my parents were married. ALS
took him months before I was born. ( Michael's mother pictured here also passed from ALS)
2. How did you feel when you found out you carried the C9orf72 mutation for
ALS/FTD, and what did you do about it?
I felt a sense of relief to finally know. The 50/50 cloud was beginning to get dark in my
mind. I told my loved ones, had some tough conversations with family, scheduled a
baseline visit with a neurologist, and began enrolling in observational research.
3. What made you decide to participate in a drug trial when you are an
asymptomatic patient?
NADALS was the first ever interventional study for presymptomatic gene carriers. As
the first in my family to know their genetic status, I was blessed enough to qualify, and in
a position where I could participate. I have lots of friends to thank here. Without them
my participation would not have been possible.
4. Please tell us something about yourself that we don’t already know.
My friends often refer to me as “Coz”- the same nickname my father had.
June 2024 - Update
Greetings - End the Legacy and the genetic ALS & FTD movement had a busy June. We hope these updates, separated into our four pillars, are of interest and provide inspiration. Please pay attention to a few surveys at the bottom shared by others seeking input on important issues.
Support & Education:
Our First Summit:
After years of meeting on Zoom (and Google Meet!) , many of our End the Legacy members met in person for the first time from June 7th to June 9th in Chicago. The Les Turner ALS Foundation and Northwestern University were generous local hosts for a weekend of learning, sharing, and celebrating. We heard from experts in genetic ALS and FTD, researchers, and peers. We learned how to read and dissect a research paper. We listened to stories of others with diseases that can be solved by activism and science. Our panelists – many of them End the Legacy members – validated our feelings, challenged our beliefs, and called on us to do more for our community. One of the most powerful takeaways from our first summit was that we’re not alone in the fight against ALS/FTD. We’re a wise, plucky community of friends and colleagues, and we’re here for each other. May this important first be the first of many!
See our Facebook post for some great photos!
Peer Support Hour
We welcomed new peer facilitators for our monthly peer support hour in June - cheers Mindy, Carolyn, and Lauren! While our weekly meetings are about driving on our mission, our monthly peer support hour is an informal space to connect with others impacted by inherited ALS and FTD without judgment or agendas. Sign up here to attend, the 3rd Wednesday of the month at 6pm Eastern.
Weekly Meetings
Our weekly meetings have been ongoing, and Cassandra recently facilitated an excellent session. Our weekly attendance regularly exceeds 20 individuals—we appreciate everyone's participation!
Advocacy
NASEM Committee Report on ALS
On June 18th, the National Academy of Science, Engineering, and Medicine released its report on making ALS a livable disease. End the Legacy’s Mindy Uhrlaub worked for eighteen months with an eighteen-person committee, carrying the flag for the genetic carriers and people
at risk of genetic ALS/FTD. Please join Mindy and two other members of the NASEM committee as they discuss the content and writing process of the report: Living with ALS.
Our conversation on Tuesday, July 9 th begins at 3:00PM Pacific/6:00PM Eastern, and you can sign up here. The full report can be forum on the National Academy’s website here.
Raising the Issue of Stigmatization of Those at Risk of ALS and FTD
This past month, we ran a series highlighting some statements made by researchers about our community. As we desired to educate on the issue and not shame particular people, we shared summaries of statements without naming our sources. If you would like the particulars for each, please reach out. If our posts were unclear about the fact that they were summaries of statements and not direct quotations, often made in meandering Q&A dialogue, we regret any confusion caused and will strive to be clearer going forward.
Research
C9orf72 Prevention Trial Meeting
In June a one day meeting was held in the Washington DC area hosted by the ALS Association and the Association for Frontotemporal Degeneration and chaired by Drs Boxer and Benatar. Jean and Gail were the only impacted participants and cheered the event and were thankful for their invitations to attend. A summary of the lively and promising proceedings is forthcoming.
Surveys to Consider
FTD Caregiver Survey
Subject: Frontotemporal Dementia Caregiver Survey
Thank you for considering participating in the Frontotemporal Dementia (FTD) Caregiver Survey! Your responses will help Alector, a biopharmaceutical company, better understand your experiences as a caregiver of an individual diagnosed with FTD. The survey will ask questions about your interactions with healthcare providers, use of support services, and day-to-day caregiver challenges. The goal of this survey is to improve overall care and resources for people and families affected by FTD.
We need people who:
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Are or have been a primary caregiver to someone diagnosed with FTD
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Are 18 years or older
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Reside in the United States
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Additional criteria will be reviewed in the survey
We are looking for 50-75 caregivers to complete the survey, after which the survey will be closed. The survey will take about 20 minutes to complete, and the respondents who submit the completed survey will be compensated for their time in the form of a $20 gift card.
If you have any questions, please contact the non-profit organization administering the survey, The Center for Information and Study for Clinical Research Participation (CISCRP) at research@ciscrp.org.
ALS Patient and Caregiver Survey
The Lived Experiences Igniting Transformations in Health (LEITH) Lab led by Chelsey R. Carter at the Yale School of Public Health is looking for caregivers of those with ALS and people with ALS to take a survey. The LEITH lab is looking to collect surveys and conduct interviews with caregivers of people with ALS and people who live with ALS. The purpose of this research study is to examine the socio-cultural and behavioral factors influencing care interactions among people with ALS and their caregivers.
The survey will take approximately 20-35 minutes to complete. All responses will be kept strictly confidential, and data will be anonymized in any resulting reports. Our research project is funded by a Seed Grant through the ALS Association. Individuals who meet the criteria and complete the survey will be eligible to receive a $50 gift card of their choosing.
Thank you for your participation!
Best,
Dr. Chelsey Carter
SURVEY LINK
Caregiver Survey link: https://yalesurvey.ca1.qualtrics.com/jfe/form/SV_bPXKlK8K8GAJsqi
Care Recipient Survey link: https://yalesurvey.ca1.qualtrics.com/jfe/form/SV_8GheZIzI4QRqRzo
April / May 2024
We are proud to share these updates with you! These updates are separated into our 4 pillars - Education and Support for our community, Research about our community, and Advocacy on behalf of our community. We are also glad to share the spotlight of Dr Roubenoff, whose wife, Dr Falk, joined our community as she suffered from ALS. To have received Dr Roubenoff into the team following her passing is a touching reminder of the ever-lasting fight that these genetic diseases imbue into our families. We honor Dr Falk’s memory, especially as she participated in the Biogen C9orf72 ASO trial that did not work but provided such valuable knowledge of the disease.
Education
An Amazing webinar explaining the Loss of Function theory of C9orf72 disease was held on April 11th. Presented by the generous Professor Janice Robertson it was extremely informative. Watch it here.
When an amazing development for our community debuted in the new Miami Framework for ALS we shared an analysis for our community breaking down what it meant for diagnosis of ALS in gene carriers. Read it here.
For ALS Awareness month Cassandra designed a great infographic series for us to share about what we do! See it here.
We are eagerly anticipating our first in-person meeting ever - the inaugural End the Legacy Genetic ALS & FTD Community Summit! Taking place in just 7 days we couldn't be more proud and excited that this is really happening!
Advocacy
Jean spoke at the ALS Canada Research Forum on a panel about asymptomatic research. Thanks to the team at ALS Canada for the Invite!
Karen King spoke at the ALS Drug Development Summit on a panel about genetic research.
Jean is preparing to speak at a meeting to prepare for C9orf72 Prevention studies, hosted by the ALS Association and the AFTD. Thanks to them for the invitation!
Research
We had an abstract accepted for a poster presentation at the International Society of Frontal Temporal Degeneration meeting in September - congrats to the authors Jean, Jary, and Daniel.
Jean advised and collated feedback from the group for the ALL ALS asymptomatic study and attended their Investigator training. Thanks to the leaders of the study especially Drs Berry , Harms and Garret for soliciting this feedback.
We are pleased to share that the guidance from the meeting last year on care advice for the at-risk community has been submitted and is pending review.
Support
Our weekly meetings proceeded well throughout April and May, with Cassandra facilitating one of the meetings while Jean was on vacation. Recently, we had our largest Friday meeting to date with over 30 participants.
Our monthly peer support hour announced a time change to 3pm Pacific every 3rd Wednesday. Sign up here. Cheers to newly enrolled facilitators Laura, Mindy and Carolyn!
Member Spotlight: Ronnen Roubenoff, interviewed by Mindy Uhrlaub
1. What is your connection to Familial ALS/FTD?
My wife, Barri Falk, died of C9orf72 ALS in October 2022. Her brother had died of it a year earlier. Her sister has it now. Their mother, in retrospect, probably had FTD, though it was not diagnosed during her lifetime. Barri’s 17 year old son is at risk for carrying the gene but has not been tested.
2. These neurodegenerative diseases can make patients and families feel out of control. What gives you agency over ALS/FTD?
Not much, I’m afraid. I’m a physician and have been working in biotech and pharma for over 20 years, including on drugs for ALS. Being involved in research and in patient support groups is the best I can do.
3. Short of a cure for ALS/FTD, what is your hope for the genetic community?
We need better systems for identifying and recruiting patients and carriers for clinical trials. If we’re going to find treatments that work, we need to build networks of patients, families, clinicians, and researchers who can openly discuss new ideas and move studies forward faster and more cheaply than today.
4. Please tell us something about yourself that we don't already know.
I was widowed twice before, each time from cancer. ALS is worse, in a way. With cancer, you’re always waiting for the next shoe to drop, but you’re ok until you’re not. With ALS, the screw turns every day, it’s a continual retreat.
Any Photos you would like to share?
There’s one of Barri at a Red Sox game in August 2022; one of her before she was ill, in 2019; one of her and her sister Lisa at the same time.
In Solidarity,
Jean Swidler
Genetic ALS & FTD: End the Legacy
EndTheLegacy.org
Update - March 2024
Greetings. This simple update is replacing our prior newsletters. Many thanks to newsletter editor Julie Granning!
We have been busy as an organization, and we are proud to share these simple updates with you! Below I've included an anonymous member spotlight interview conducted by our own Mindy Uhrlaub.
Community Summit 2024:
We are so pleased and excited to open up registration to all impacted by Genetic ALS & FTD to our first Community Summit of those impacted by genetic ALS & FTD. The event will be held in Chicago with local host the Les Turner ALS Foundation, from Friday afternoon, June 7th, through Sunday mid-day, June 9th. The summit will focus on informal connections for the dozens of participants, a NEALS Clinical Research Learning Institute, and skill-building panels for a strong Genetic ALS & FTD patient movement. Learn more and sign up here!
Education:
We held a great webinar on Practical Updates in Genetic Testing in ALS and FTD; many thanks to our presenters, Genetic Counselor Tara Jones and Professor Ammar Al-Chalabi. View it here.
We recently debuted our SOD1 Genetic Research Education Series webinar recording with translated captions in French and Spanish. View it here.
Our next educational webinar will be hosting Professor Janice Robertson discussing the role of the Loss of Function of C9orf72 in ALS and FTD on April 11th. Sign up for it here!
We debuted a section on Genetic Testing on our website.
Support
Our peer support hour continues! It's held on the Third Wednesday of the month at 4pm Pacific. Sign up here!
Our weekly community team meeting is held every Friday at 9am Pacific. Reply to this email if you would like to attend, along with why.
Advocacy:
We were proud to share with allies in the UK the news of the public board meeting of the NICE committee that made a wrong decision on Qalsody. We applaud the many clinicians, organizations, and patients standing up against this injustice.
We broke the news of the unjust denial of Qalsody for 22-year-old Shelby in Texas by Blue Cross Blue Shield of Texas, a subsidiary of HCSC. Please condemn these insurers on social media with the hashtag #fightingforshelby and stay tuned for new updates on the campaign.
We are supporting the education of State Legislators across the country on the need for broader genetic non-discrimination protections, including in South Carolina, New York, and Maryland.
Research:
We have been hard at work helping fine-tune the report from the first-ever workshop on clinical advice for those at genetic risk of ALS and FTD - it will be a watershed moment when the final product is released, and we are so proud of our part in making that happen. Expect robust community education from us when that debuts.
We submitted our first new abstract of the year for the ISFTD conference in September. We can't wait to share the important information contained in it. Cheers to Jean, Daniel Brickman, and Jary Larsen for their hard work on it.
Many of us, including Linde Lee, Karen King, Cassandra Haddad, Jean, and others, have been invited to speak on panels in the coming months at different conferences. A few years ago, the voices of the at-risk community were absent from the conversation. We have helped turn this tide mightily.
Member Spotlight by Mindy Uhrlaub
1. What is your connection to FTD?
I am a caregiver for my 57-year-old husband who was diagnosed with behavioral variant FTD. He carries the mutation in the progranulin gene which also is thought to be the cause for his mother's early death nearly three decades ago. At that time, doctors told us she did not have Alzheimer's, but instead had "Pick's Disease". We did not make the connection between my mother-in-law's disease and my husband's because their symptoms were vastly different. It was only after worsening symptoms and a second opinion from a new neurologist that genetic testing was done and this revealed the mutation.
2. What are your feelings about genetic testing?
I would encourage anyone that has a loved one with an FTD diagnosis consider genetic testing for the impacted/sick person. If the FTD diagnosed person carries any of the known genes that cause FTD, family members can have a better understanding of their own risk and can make an informed decision for themselves as to whether or not to test. There are clinical trials ongoing now for patients with the progranulin mutation, and they may slow or potentially even stop progression of disease. The only way to participate is if the patient knows they have the mutation. Genetic testing and participation in clinical and observational trials may offer hope for some FTD patients and their families.
3. Short of a cure, what are your hopes for people (and their families) with genetic FTD?
I can't really focus on anything except a cure for each and every type of FTD. Since the disease is so heterogenous, this is a tough hill to climb, but I hope that bit by bit we will get there. In the meantime, I hope for privacy, fairness, and emotional/financial support for impacted families.
4. Please tell us something about yourself that we don't already know.
I'm an avid gardener and have an extensive collection of cacti and succulents that I've grown from cuttings or from young plants. I am obsessed with all things that grow and it gives me peace and strength to reap the benefits of my hobby. My husband loves to watch me garden and enjoys sitting outside looking at all of our beautiful potted plants.
In Solidarity,
Genetic ALS & FTD: End the Legacy
EndTheLegacy.org