Our daughter, Maddie Sargent, was diagnosed with Angelman syndrome in January 2020. Mystified, terrified and on the brink of a worldwide pandemic, we were determined to find the most experienced providers to care for our girl. We took Maddie to the Angelman Syndrome Clinic at Mass General to see Dr. Thibert and later to Children’s Hospital Colorado to see Dr. Duis. We immersed ourselves in the Angelman syndrome community, enrolled Maddie in comprehensive educational and developmental therapies, and built a network of local providers to care for her.
The months after Maddie’s diagnosis were filled with grief and frustration, understanding the future we envisioned would not be our reality. However, as we navigated towards acceptance, we found hope and solace in the evolving news and research related to clinical trials specific to Angelman syndrome. Living with a rare disease comes with so many challenges; being placed within a rare disease community that prides itself on never accepting “no” as an answer was our greatest blessing.
Maddie’s smile, resilience, and determination, coupled with a fierce and relentless Angelman syndrome community, were the impetus to our family establishing Maddie’s Mission Foundation. As a family, we believe that Maddie and her peers should have local access to experts who understand the complexity of Angelman syndrome. Anguished and exhausted parents need the confidence that their medical team knows how to respond to their complex child. Following a hospitalization last summer with Maddie, we realized this first hand. It was then we realized that Kansas City needed an Angelman Syndrome Clinic.
We are thrilled that Maddie’s Mission Foundation, together with Children’s Mercy Hospital and the Angelman Syndrome Foundation have succeeded in this goal. Maddie and her Angelman friends in Kansas City and the extended Midwest region will now have access to expert medical care at an Angelman Syndrome Clinic. Further, as Angelman syndrome therapeutics evolve, Maddie and others living with Angelman syndrome will have the opportunity to receive these treatments in their own backyards.
We wish to thank Children’s Mercy Hospital, particularly Dr. Le Pichon, and the Angelman Syndrome Foundation for partnering with our family to make this vision a reality. We look forward to Maddie cutting the ribbon at the clinic opening in a few weeks. With several potential Angelman syndrome treatments in the clinical trial space, Children’s Mercy and Kansas City have the opportunity to change history for children living with rare diseases.
Learn more about the Ladder Learning Network and ASF Clinics.