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End the Legacy Updates 

Current Update - June 2024

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.

LINK TO SURVEY

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 

https://www.theleithlab.com/ 

 

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 

 

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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

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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

 

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