On February 15th is International Angelman Day and the month of February is rare disease awareness month 🦓 🦄 . A day to bring awareness, education, advocacy and support to everyone who touches our lives about being rare and unique. This is an opportunity to share with you a glimpse into the lives of some of the most brave, resilient, beautiful, and inspirational humans alive.
Quincy is #myreason to see beyond challenges and make “the impossible possible.” Angelman syndrome does not define Quincy, but instead it re-defines many words in our life: IMPACT, DETERMINATION, MEANING, LOVE, JOY, INSPIRATION, FAMILY, SCIENCE, HOPE, BRAVERY, FRIENDSHIP, COMMUNITY, SUPPORT, KINDNESS, ACCEPTANCE, CHALLENGE, INCLUSION, just to name a few. Quincy is so much more than Angelman syndrome (AS), but AS does challenge her in huge ways. At 5.5 months of age we got a diagnosis and it was described by the neurologist as “catastrophic”. The first word I heard. Words matter, they stick with you, they can define you, but you can also choose to defy them, re-define them, and rise above them. She sure has, and so have we. She is anything but “catastrophic.”
With this diagnosis, which was DEVASTATING, came all of the fears of the unknown. Through this diagnosis we were lucky enough to join the most incredible community in the world, that of other families handling similar challenges: like mobility, sleep, seizures, communication and inclusion. Then we met FAST, the Foundation for Angelman Syndrome Therapeutics (FAST) #cureangelman, who set their mission to improve the lives of those living with AS through transformative therapeutic discovery. I was lucky enough to join the board of directors of FAST and play my part. Through pure passion, will, devotion, great science and dedicated teams of scientists, families, and clinicians the word “HOPE” crept in. The most incredible science is being advanced to bring transformative therapeutics to patients living with this rare disorder. There are so many novel gene-targeted therapies in development for AS, and FAST has been driving most of them forward to human clinical trials! Why are we having to do this ourselves you ask? What is the alternative? Our commitment to this single mission will never waiver!
Angelman syndrome is not degenerative. Quincy learns and thrives, but at her own pace. She tests our patience, and reminds us what matters. Her INCHSTONES eventually add up to milestones. She is not “typical”…she is “extraordinary”! She is pure JOY, while also incredibly stubborn (not sure where she gets that from?). She fights for EXACTLY what she wants (also not sure where she gets that from?). She communicates in her own unique ways, and that is generally through gestures, signs, giggles, and her iPad symbol system. She SHINES a light into every room she enters, she challenges us to work harder, faster, and smarter because we are reminded every day that she deserves nothing less!
Despite it all she faces challenges every single day that no one should have to. We are lucky she does so with the most incredible grace, another word that re-defines her….”GRACE”
So if you want to know how you can help? You can do one, or all, of the following 3 things:
1)Share! Help us raise awareness about Angelman syndrome. Help us share with the world that there are 26 different approaches advancing through the drug development ecosystem to change the lives of individuals like Quincy
2)Wear Blue! On February 15th you can wear blue, and encourage others to do the same. This is to show support for Angelman syndrome and take photos, tag #IAD2025 #cureangelman
3) Donate here: https://cureangelman.org/donate-3! The only reason there are so many therapeutic opportunities in and approaching clinical trials is because of our community that works so hard to raise the money to do so. The exponential growth and trajectory of the drug development pipeline for gene-targeted therapies (gene therapy, gene editing, disease modifying, etc) for AS is because of FAST! That is through the support of people like you! Quincy’s Quest Foundation is our own non-profit who supports many initiatives, most of which is the vision and mission of FAST and our local NYC community of rare kiddos that need our support for a better future. By donating you are helping so many….being part of another redefining word….IMPACT.
With Kindness,
Allyson
Allyson Berent, DVM, DACVIM
CSO, Foundation for Angelman Syndrome Therapeutics (FAST)
Co-Director, Angelman Syndrome Biomarker and Outcome Measure
CDO, AS2 Biotherapeutics
