Genetic ALS & FTD: End the Legacy

For those in the United States now is the time to take action to protect and advance the cause of ALS and FTD research. End the Legacy in concert with a broad coalition of ALS organizations have made that clear in a unifed letter to congress. Contact your legislators today and share the importance of genetic ALS and FTD focused research to your family. Read more and take action here https://lnkd.in/gU-5nD8a

Many of the inheritance patterns of genetic ALS and FTD unfold sparingly over time with the most likely ages of manifest symptom onset occurring close to normal retirement ages. But that means little when it is your generations turn to reach those milestones in affected families. In one member's family this has resulted in no relatives passing from ALS for 28 years, with their mother passing from ALS in 2019, an aunt in 2023, and an uncle just days ago. That means 3 out of 7 children who reached adulthood in that generation passed from ALS in a span of 6 years. We firmly believe compassionate care in healthy stages of life - tied to reasoned likely ages of symptom onset - will lead to better outcomes for genetic ALS and FTD families. Learn more about this movement at EndtheLegacy.org

ALS took my father 14 months after foot drop, just 6 months ago. And last week, in the 7th year of my MD-PhD at UPenn, I attended the #Packard Symposium at Johns Hopkins, one of the best closed meetings on ALS in the world. This was my first time meeting the incredible physician-scientists, physicians, and scientists in the fight for better drugs that halt this devastating neurodegenerative disease. At Packard I had incredible conversations with Dr.'s Jeffrey Rothstein, Aaron Gitler, Claire Clelland, Rita Sattler, Adrian Isaacs, Jonathan Glass, Leonard Petrucelli, Sarah Mizielinska, Nicholas Seyfried, Zachary McEachin and many more. I have renewed hope that in my lifetime, I will be able to leverage science and medicine to contribute to better treatments (or dare I say it, cure?) for ALS & FTD, both familial & sporadic. It's my only hope to eradicate these diseases from my family tree, and I'm wholly committed. Yesterday I had the opportunity to present findings from four Packard scientists to a group of people affected by familial ALS & FTD at Genetic ALS & FTD: End the Legacy. I received permission from these scientists to distill their confidential translational--and groundbreaking--findings into middle- and high-school level biology language, then present it to a closed group of people whose very survival depends on a new generation of treatments. I'm honored to do this, and grateful to the scientists that granted permission. Otherwise, such an affected group doesn't have access to the science that is 1-3 years removed from publications and clinical trials. During the remainder of 2025, I will attend four more such meetings. Hopefully then I will have a better understanding of when, and how, to leverage my skills and training towards this goal; hopefully then, my hope will take the form of translational efforts to turn the tide for affected families. As always, I dedicate my ALS efforts to my dad, "Brother" Frank Albrecht. You died in my arms, with a fight to live that science & medicine couldn't help you win. I dedicate my life to changing those odds for the Albrecht family.

At End the Legacy we have not been hibernating this winter! See some of what we have been up to here: https://lnkd.in/gDaHQ9ev

Impacted voices are always needed when diseases are discussed. We are proud that our own Nurse Practitioner Cassandra Haddad presented at the annual Packard Symposium on ALS research. There she also met Yentli, an MD-PhD student who recently obtained her PhD at the University of Pennsylvania and who is from a family impacted by C9orf72. We cheer the Packard Center for hosting this event and all who participated to move science forward! #endthelegacy #c9orf72 #sod1

Last month we were proud to host an informative webinar on the historic newly released guidance for those at risk of genetic ALS and FTD, which for the first time had world leading experts acknowledge that being at risk for inherited ALS or FTD is a factor in an individuals personal health. See a recording of the webinar here. Subtitles in German, French, Spanish and Italian are available. https://lnkd.in/gt6WxAXS

Happy Rare Disease Day from 3 of thousands of Bay Area residents impacted by inherited ALS or FTD! #rarediseaseday25

Today we are remembering our first summit last year! The intense connection of advocates who had worked together online for years meeting in person the first time was palpable. With even more returning and new attendees registered for this years event in Philadelphia we expect more of the same this June 6th - 8th. Of special note this will not be yet another occasion where our community is talked down to. Every panel will have someone with lived experience leading from the front of the room. All impacted attendees will have two nights hotel and full conference attendance covered for a small $75 registration fee. For a limited time all impacted registrants also have access to up to $500 in reasonable travel reimbursements after attending the meeting. Learn more and register today! https://loom.ly/ULkJEBg

We are thrilled to share our new genetic education service where our community members can receive free, personal genetic education from a licensed Genetic Counselor. This will help ensure those exploring genetics make use of full genetic counseling before any testing. This is not a medical service (no testing will be ordered) and no medical records will be created. Learn more and sign up for a session here : https://lnkd.in/gz8igzEz

We were proud to send our own Jean S. to Capitol Hill first for the collaborative and unifying More Than Our Stories ALS Advocacy event where dozens of individuals and groups impacted by ALS strategized together on US federal priorities for the disease and those impacted by it. Cheers to the organizers and all who participated. The next day we were proud to partner with ALS Network for visits to the CA Senate delegation. We must have our communities voice heard wherever it needs to be! #GeneticALS #GeneticFTD #ALS #FTD #C9orf72 #SOD1 #GRN #EndtheLegacy