How Kristina Found Coordinated Care for Adult 22q at Memorial

Children with 22q deletion syndrome don't outgrow it. Instead, their health needs change with age. Many adults are left to manage the disorder with multiple specialists who may be unfamiliar with 22q. The program expansion addresses those needs, explains Dr. Ale.

In 2023, Dr. Ale and colleagues at Joe DiMaggio Children's Hospital launched the Adult 22q Multidisciplinary Clinic at Memorial Regional Hospital. Together, the pediatric and adult clinics create a continuum of care that supports patients from childhood through adulthood. This coordinated approach remains uncommon for individuals living with complex genetic conditions.

Kristina was thrilled and honored to be the clinic's first patient. "Having something right here in my backyard has been amazing," she says. "It's like a safety net. You know physicians are actually going to hear you."

Among the first of its kind in the country, the adult 22q clinic brings together Memorial's specialists familiar with the disorder, including:

• Cardiologists
• Endocrinologists
• Genetic counselors
• Geneticists
• Immunologists
• Psychiatrists
• Social workers

This multidisciplinary approach enables patients to receive care from multiple specialists during a coordinated visit, rather than navigating separate appointments across different healthcare systems.

For patients like Kristina, this means coordinated care for her 22q-related health needs from doctors knowledgeable about the varying health manifestations of the disorder.

"Kristina's journey illustrates one of the most important reasons we created the Adult 22q Multidisciplinary Clinic," says Dr. Ale. "22q11.2 deletion syndrome does not end when a child turns 18."

Today, Kristina continues receiving comprehensive, expert care through Memorial's adult 22q clinic. Her experience highlights the importance of ensuring that patients with genetic conditions have access to multidisciplinary care as they transition from childhood into adulthood.

Learn more about Memorial's adult and pediatric clinics for patients and families affected by 22q.