Penn and CHOP launch center for rare genetic condition with million donation.

Michael Armellino’s introduction to Williams syndrome came a decade ago with the birth of his partner’s granddaughter, Maelyn. An internet search revealed the serious implications of this rare genetic disorder, including a heightened risk for heart disease and marked developmental delays. However, nothing could have prepared him for the profound impact of meeting her.

Maelyn, with her radiant smiles and enthusiastic declarations of love, exemplifies one of the hallmark traits of Williams syndrome: an exceptionally amiable and sociable disposition. Armellino, a retired Goldman Sachs executive residing in New Jersey and a Wharton School alumnus, found his life brightened by her presence. Motivated by Maelyn’s journey and recognizing the healthcare challenges faced by others with this condition, Armellino donated million to establish a dedicated center in Philadelphia.

The Armellino Center of Excellence for Williams Syndrome began seeing patients last year and recently relocated to its permanent facility at the Hospital of the University of Pennsylvania. This center represents a collaboration between the Children’s Hospital of Philadelphia and Penn Medicine, designed as a comprehensive resource for individuals with Williams syndrome. Here, both children and adults can receive multidisciplinary care tailored to the unique constellation of symptoms associated with the condition.

Approximately 20,000 to 30,000 individuals in the United States are affected by Williams syndrome, a genetic disorder caused by the deletion of over 25 genes on chromosome 7. This genomic alteration leads to various physical and cognitive impairments, including cardiovascular complications due to the absence of the elastin gene, which is crucial for maintaining flexible blood vessels. Moreover, affected individuals often exhibit distinctive facial features and a generally outgoing personality.

The center’s staff includes leading experts from across the country who are dedicated to addressing the complexities of this syndrome. They offer a unique half-day clinic format, allowing families to meet with a range of specialists in a single visit, providing much-needed convenience and accessibility to comprehensive care.

A significant feature of the facility is its focus on lifelong care, from childhood through adulthood. It provides transition programs aimed at equipping patients with skills essential for independent living. Dr. Carolyn Mervis, a psychologist specializing in Williams syndrome, is researching developmental adaptive skills, reinforcing the center’s commitment to enhancing the quality of life for its patients.

Armellino’s hope for Maelyn is that she continues to thrive, particularly in her reading abilities, which could open doors for future employment. The center’s ultimate goal is to empower individuals like her, fostering opportunities for them to reach their full potential.

For many families, the Armellino Center is their first access to holistic care, significantly transforming their experience and supporting them in navigating the complexities of Williams syndrome.