End the Legacy Updates
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:
-
Are or have been a primary caregiver to someone diagnosed with FTD
-
Are 18 years or older
-
Reside in the United States
-
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
​
Archival Newsletters
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
​