Shannon Boyle lives in a northern suburb of Philadelphia, Pennsylvania in the USA with her husband, Sean, and their 4 teenage children - Riley (19), Aidan (17), Maura (13) and ZTTK warrior Audra (13). Audra joined their family through the blessing of international adoption in 2013 when she was five and half years old. Audra quite literally walked into Shannon's arms and stole her heart that very instant in a crowed Civil Affairs Office in China. Upon returning home their world was immediately thrust into solving the medical mystery that Audra is. In 2017 Audra was diagnosed with ZTTK syndrome and so many pieces of the puzzle finally started to fit together.

Shannon received a Bachelor of Science in Nursing from Gwynedd-Mercy College in 1998. She has been working as a Registered Nurse in the Pediatric Intensive Care Unit at Children's Hospital of Philadelphia since 1999 in various roles ranging from bedside nurse to Clinical Nurse Expert and her current position of Nursing Clinical Supervisor. She achieved certification as a Critical Care Registered Nurse. Shannon is a longstanding co-chair of the Critical Care department's multidisciplinary Patient Safety & Quality Improvement committee. Much of her focus during 2020 was in planning for, organizing and supervising the operation of the hospital's pediatric COVID-19 ICU. In 2020 Shannon was the recipient of the hospital's Department of Nursing Excellence in Leadership Award.

Shannon is particularly passionate and supportive of many local and national non-profit organizations including Autism Speaks, Immune Deficiency Foundation, Make-A-Wish Foundation and Brittany’s Hope (which provides grants to assist families with the financial burden of international adoption). Fundraising and community events are of special interest to her.

Shannon is both excited and honored for the opportunity to serve the ZTTK community as President and Chair of the Board of Directors. She is looking forward to the journey of helping to launch the ZTTK-SON-Shine Foundation, including raising awareness of and supporting research for ZTTK syndrome.

Kerry lives in Westchester County, New York with her husband and two sons. Her son Jack was diagnosed with ZTTK Syndrome in 2021 when he was eight months old. He is now a determined, loving, inquisitive toddler who loves music, climbing, and cuddling.

Kerry is an advocate by passion and profession. She is currently an Enforce Director in the Regulation Department of the New York Stock Exchange, where she investigates broker-dealers for potential violations of the securities laws. Prior to joining the NYSE, she was a criminal defense and investigations attorney at a large law firm and worked for the Judiciary Committee of the U.S. House of Representatives. She earned her JD from Cornell Law School and her BA from Boston College.

As another rare disease mom described it, getting Jack's diagnosis was a "grief and a relief." Although the diagnosis confirmed that Jack would face medical hardships and that his life may look different from what Kerry had imagined, it also meant that they were a part of a larger community, a community that understands the joy, fulfillment, and love that come with parenting a child with ZTTK Syndrome. Kerry is honored to serve as Vice President of Foundation and Vice Chair of the Board.

Casey Ganer resides in Westchester County, NY with his wife, Michelle, their three children, and their fur baby, Laila.

After months and months of doctor visits and tests, Casey's daughter was diagnosed with ZTTK at 2 years old. She is a determined, confident girl who continues to amaze everyone with her passion for life, her ability to laugh and her sense of humor. She may be small but she sure is mighty. She absolutely adores her brothers and is an amazing big sister.

In addition to serving on the ZTTK Board as the Treasurer, Casey is the Private Wealth Industry Leader at Bonadio & Co., LLP. He specializes in family offices, partnerships and public accounting services. His day to day energy is spent helping professionals in the entertainment industry, high-net-worth individuals, entrepreneurs and business owners.

Casey is an avid lover of music and has traveled around the country following Phish. He's lived in Colorado, California, New York and Belgium. He received his Bachelor's degree from the University of Colorado at Boulder and his Master's in Business Taxation from USC. He is passionate about the outdoors, traveling and cooking.

Andrea Machado lives in Portugal in a city south of Lisbon with her husband Andre and their two children, Daniel (11) and Matilde (5).

Before that, they lived in London (UK), where both of their children were born. In 2018, after five years of intense research, tests, and an invitation to join the Deciphering Developmental Disorders (DDD) study in 2015, her oldest son Daniel was diagnosed with ZTTK.

Soon after, Andrea found out through her son's geneticist about the SON-Shine Foundation. She was delighted and immediately felt less isolated. She is very happy to be part of the ZTTK community and a board member.

Andrea has lived in different countries in Europe. Being the only board member living outside the USA she strongly feels capable of helping the ZTTK SON-Shine foundation to interact and support families and patients with ZTTK from other countries, promoting community, outreach, and regional interactions.

Andrea is a self-employed architect and has a flexible schedule which allows her to help her son through the different medical appointments, therapies, and activities as well as battling for her son’s rights.

Andrea loves spending time with her family, cooking and baking and is an avid reader.

As a Board Member of the ZTTK SON-Shine Foundation, Ada is committed to accelerating drug development for her son Lucas and others with ZTTK.

Drawing from her professional background in strategy, data analytics, and finance, she brings valuable insights into collaborating with diverse teams across different regions and partnering with both private sector and non-profit organizations to drive impactful change. Ada’s passion lies in improving health equity for underserved communities. Currently serving as the Director of Strategy at CVS Health, she is dedicated to driving accessibility and affordability in healthcare products and services.

With a degree in Economics from Harvard and an MBA from The Wharton School at University of Pennsylvania, she is eager to leverage her professional and educational backgrounds to remove barriers in rare diseases and enhancing health outcomes for our ZTTK community.

When Ada is not working, she enjoys exploring local fun spots and engaging in community events in Somerville with her husband Nathan, Lucas, and their pup Luna. An avid fitness enthusiast, she also takes pleasure in participating in local races – and she hopes Lucas can join her in the future!

As a Board Member of the ZTTK SON-Shine Foundation, Nathan is committed to accelerating drug development for his son Lucas and others with ZTTK. Nathan is currently Sr. Director, Corporate Strategy and Strategic Capital at Thermo Fisher Scientific, a leading life sciences tools and services provider. Nathan brings his experience translating complex scientific concepts to layman’s terms to synthesize key information about ZTTK syndrome. Nathan has focused on spearheading translational science efforts, including iPSC development and drug modality prioritization. Nathan graduated with a B.S. Chemical Engineering from the University of Texas at Austin and an MBA from the Darden School of Business at the University of Virginia.

Francisco is deeply committed to extending the reach of our foundation and spearheading impactful marketing endeavors to champion our mission and values.

Embracing a forward-thinking vision, Francisco is dedicated to harnessing new technology and innovation to propel our cause forward. With a profound understanding of digital trends and emerging technologies, Francisco leads the charge in utilizing technology for social good, optimizing operations, and elevating our online presence.

With a passionate drive, Francisco aims to leverage his expertise to fortify the foundation's outreach endeavors, endeavoring to provide comprehensive support to all those impacted by ZTTK.

Dr. Erin (Eun-Young) Ahn is an Associate Professor at the University of Alabama at Birmingham and she has been dedicated to SON research since 2005. Dr. Ahn initiated her study on SON when she was working as a postdoctoral fellow in Dr. Dong-Er Zhang’s laboratory at the Scripps Research Institute and UC San Diego. Her work identified SON’s function for the first time in the regulation of RNA splicing. Since 2012, Dr. Ahn has been leading her independent laboratory to identify SON’s roles in regulation of gene expression associated with various human developmental processes and diseases.

Dr. Ahn initiated and led a multi-group collaboration to identify the pathogenic role of SON mutations and the underlying molecular mechanisms. The study involved more than 60 collaborators, including clinicians, genetic counselors and researchers from all over the US and Europe. This finding, published in 2016, made a major contribution to defining ZTTK syndrome and its diagnosis.

Using molecular biology, cell biology and genomic technologies as well as mouse models, Dr. Ahn and her research team are continuing their research. Dr. Ahn’s team is working to uncover the detailed molecular mechanisms of SON’s functions and to understand how SON variants found in our ZTTK SON-shine children affect development and the functional maintenance of various organs/tissues, with the ultimate goal of finding potential treatment. Dr. Ahn is also collaborating with other scientists and clinicians all over the world to establish knowledge about the clinical features of ZTTK syndrome.

Dr. Ahn and her research team are proud of being part of the ZTTK SON-Shine community, and wish for their continued research efforts to benefit our precious ZTTK SON-Shines and their families.