Hi Cure,

Happy spring! 🌸 We’re looking forward to the warming weather here in the US, and spending more time outside with our FAST community in the coming months.

If you have updates you would like to be included in next week’s newsletter, please email us at info@cureangelman.org.

A huge congratulations to the Rett syndrome community for the recent approval of Trofinetide, a first-ever approved treatment for individuals living with Rett syndrome from Acadia Pharmaceuticals! Trofinetide is taken orally and acts to increase insulin-like growth factor 1 (IGF-1), a protein that is detected at low levels in an individual with Rett syndrome and necessary for brain development and plasticity.

This is encouraging for the Angelman syndrome community, as it helps to define what success could look like as it relates to the clinical trial endpoints.

Click here to read more about the approved treatment and what this means for the rare disorder world:

We are excited for Kelly David, mother of Colin, who lives with AS, and Co-Vice Chair of the FAST Board of Directors, and Julie Renner, mother of Sophia, who lives with AS, to participate in the RARE Compassion Program facilitated by Global Genes.

This opportunity is a unique way to advocate for Angelman syndrome and also educate early medical students on how families experience a rare diagnosis. Kelly and Julie will each be paired with a student partner during the program to share, learn, and understand each other's world in the rare disease space.

The RARE Compassion Program provides an opportunity for medical students to learn about the unique needs and challenges individuals and their families face living with an undiagnosed or rare disease. The program offers students a chance to build compassion, understanding, and empathetic communication skills, and gain interest in specializing in fields most relevant to rare disease. For patients, the program is an opportunity to advocate for the rare community, gain a greater understanding of the medical system, and become better prepared to communicate with their doctors and other medical professionals.

Join Dr. Allyson Berent & Jennifer Panagoulias for their next Genes & Juice chat on Tuesday, April 4th to talk about all things related to gene therapies and other disease modifying approaches. This is an opportunity to have a small group discussion with two members of FAST’s translational research team where personal questions and parent/caregiver perspectives and preferences can be shared and discussed. It’s a unique experience you don’t want to miss!

What do YOU want to know related to gene therapy, cell therapy, endpoints, biomarkers, the basics of clinical trials and what do you feel you need to know to make informed decisions? Send your topic requests to info@cureangelman.org. Allyson and Jennifer will prepare for an open dialogue and helpful discussion, because KNOWLEDGE IS POWER.

April Genes & Juice Chat

WHEN: Tuesday, April 4th from 8:30-9:30pm EST (New York)

SIGNUP INFO: 15-person cap to maintain an intimate setting

(confirmed attendees will receive a zoom link on Fri, Mar 31st)

Click here to submit your name if you’re interested in joining April’s Genes & Juice chat!

Another FAST Athlete accomplishment to share — Deanna McCurdy, mother to Hayden Grace, who lives with Angelman syndrome, recently won the XTERRA Black Canyon 1/2 marathon, besting the 2nd female finisher by 22 min!

This journey was not an easy road, as you can imagine. Deanna had to get creative finding time when she could train in between her family priorities (two teenage girls each with unique needs), overcame some unexpected challenges, and had to trust everything would fall into place.

She said, “Whether we like it or not, our family has gotten pretty good at taking on challenges and rolling with the punches when life gives us detours from the route we thought we were on.”

Through the half marathon, she said her heart ran happy, and she left Arizona with excitement for the year ahead, whatever pivoting plans lie in its path.

Congratulations, Deanna — and thank you for being a role model for this community!

We want to make sure everyone in the AS community receives our updates, so please share this link widely!