For Patients

Zoi Andalcio

Zoi and his wife Katie were introduced to Boston Children’s Hospital when their son, Kamasi, was diagnosed with a brain malformation at 6 months old. He later developed infantile spasms and was found to have a rare DYNC1H1 gene mutation. This mutation caused various issues, including lissencephaly (pachygyria subtype), seizures, vision problems requiring two surgeries, low muscle tone affecting mobility, gastrointestinal difficulties, and developmental delays such as speech issues. Kamasi receives care from multiple subspecialties at Boston Children’s Hospital with regular follow-ups and weekly early intervention services at home.

Dr. Christina Briscoe Abath, then chief resident at the Infantile Spasms Clinic, introduced Katie and Zoi to the NFAC, encouraging them to join. Zoi seeks support from other families, wants to learn from researchers, and aims to offer solidarity and support to others in the NFAC. Zoi and Katie are committed to sharing their parenting journey and caring for Kamasi. They are grateful for the care they’ve received at Boston Children’s Hospital and the opportunity to be part of the NFAC.

Christine Barthelemy

Christine is a Regulatory Specialist for the Translational Neuroscience Center at Boston Children’s Hospital. Previously, she was a research assistant for the Pediatric Mood, Imaging, and NeuroDevelopment Program at McLean Hospital and interned in the Laboratories of Cognitive Neuroscience under Dr. Susan Faja at BCH. Christine holds a Bachelor of Science in Biopsychology from Tufts University and is completing her Master of Science in Regulatory Affairs and Health Policy at MCPHS. She serves on the Neurosurgery Department’s Equity, Diversity, Inclusion, and Belonging committee and chairs the Equitable Care in an Inclusive Environment subcommittee.

Christine brings her personal experience as a neurology and cognitive development patient and is a sibling of someone with developmental disabilities, Christine understands the challenges families face in healthcare. She aims to use her life experience and education to guide investigators on best practices for clinical research, focusing on equitable research, reducing participant burden, and increasing accessibility and agency for families.

Brittany Gummere

Brittany is currently a Social Work Fellow with Boston Children’s Hospital Pediatric Advance Care Team (PACT). Before beginning her fellowship, Brittany worked as a Grief Support Specialist at Riley Hospital for Children at Indiana University, where she provided support to bereaved families while developing a specialization in perinatal loss. Prior to her role as a Grief Support Specialist, Brittany Served as a Family Support Coordinator at Riley Hospital for five years, guiding families through their children’s stays in the Neonatal Intensive Care Unit. Brittany was able to develop her passion for supporting families into a clinical role by obtaining her Masters Degree and subsequent licensure in Social Work. As a palliative care social worker, Brittany is passionate about providing early, longitudinal care to children with severe neurological impairment and their families in order to optimize their quality of life. This passion was born out of Brittany’s own experience as a mother and caregiver to her daughter Ellie who lives with significant medical complexity and severe neurological impairment. Outside of Brittany’s professional endeavors and caregiving responsibilities, she finds joy in sharing outdoor adventures, culinary explorations, and travels with her husband and daughter. 

Dylan Keusch

Dylan was introduced to Boston Children’s Hospital in 2019 when he suffered a traumatic brain injury at swim practice. His incredible care under the Department of Neurosurgery and the Brain Injury Center inspired him to pursue medicine in the hopes that he could help others like himself.

Dylan holds a BS degree from Cornell University, studying industrial and labor relations with a minor in health policy. He is a firefighter/EMT in a local community and is a research intern in the Department of Neurosurgery at Boston Children’s Hospital. His clinical interests include cerebrovascular surgery and interventions, traumatic brain injury and education, and global neurosurgery inequities. Dylan hopes to attend medical school in the hopes of becoming a neurosurgeon.

Yvonne Keusch

Yvonne is the chair of the Neuroscience Family Advisory Council Research Subcommittee. She initially joined NFAC in 2020 as a way to give back to BCH after the exceptional care her son received while a patient at the hospital. In July 2019, her son Dylan suffered a random fainting episode that resulted in a traumatic acute right front-parietal-temporal subdural hematoma and bilateral hemorrhagic contusions. Dylan’s care involved various subspecialties at BCH, each playing a critical role in his recovery. The Brain Injury Center went above and beyond to offer its support and expertise in the area of traumatic brain injuries. Recognizing the importance of having resources outside the medical community that families and patients can access for additional support and perspective is what inspires her work at NFAC. More specifically, in the area of research, Yvonne hopes to find ways to use the patient voice to drive future research endeavors.  Besides her work at NFAC, Yvonne enjoys spending time with her husband and four kids. She also continues to practice as a corporate attorney. 

Aimee Krauss

Aimee is a Director of Health for the West Hartford Bloomfield Health District in Connecticut.  Aimee holds a Bachelor of Science in Therapeutic Recreation from Slippery Rock University and a Masters in Public Health from the University of Connecticut.

Aimee began her journey with Boston Children’s Hospital during a grand rounds consultation for her son who had recently been diagnosed with Myoclonic-Astatic Epilepsy. Aimee and her son continue to work with the Department of Neurology and Genetics and Genomics team.

In their free time, Aimee and her son enjoy traveling and embracing the outdoors. They love skiing in the winter, fishing whenever they can, and exploring new places together, making the most of every opportunity to be active and spend time in nature.

Michelle McDonald

Michelle is a passionate advocate for families facing the challenges of Kleefstra syndrome, inspired by her journey with her son Liam. Diagnosed at two-and-a-half years old, her son’s journey motivated Michelle to seek better care and support not just for her family, but for others in similar situations. After relocating to Tennessee for improved therapies, Michelle played a pivotal role in passing legislation to enhance services for children with Kleefstra syndrome. Her advocacy efforts are expanding nationwide as she seeks to improve insurance coverage for rare-disease therapies. Michelle is also a co-founder of “Run With Liam,” a nonprofit aimed at helping families cover costs for necessary therapies and services. Alongside her advocacy, Michelle actively contributes to Kleefstra syndrome research, donating samples through Boston Children’s Hospital. Her commitment to advancing scientific understanding helps researchers find answers.

Paul Terry

Paul is a young adult diagnosed with Kleefstra syndrome. Paul has been a patient at Boston Children’s Hospital for most of his life. At the age of 20, new genetic testing methodologies revealed that he has pathogenic variant in EHMT1, confirming a diagnosis of Kleefstra syndrome. This finding finally provided Paul and his family with a diagnosis that had long alluded them. Next, Paul connected with Dr. Siddharth Srivastava “Dr. Sid” and his team within the Boston Children’s Hospital Kleefstra Syndrome Program.

In addition to being a patient, Paul has enrolled in several research initiatives through the Kleefstra Syndrome Program. He hopes that his data will contribute to defining the natural history of the condition as well as to advance treatment approaches and new therapeutic options for individuals with Kleefstra syndrome. Paul is an avid advocate for the Kleefstra syndrome community and will continue share his lived experiences to bring awareness to this condition.

Dorothy (Dotsy) Zirkle

Dorothy (Dotsy) Zirkle is a nurse working on her PhD in Nursing at the University of Massachusetts Boston.  Her research is focused on perceptions of collaboration and partnership of healthcare providers and family caregivers of persons with severe-profound intellectual disability. Her research is driven by 34 years of experience caring for her son Matthew, who was born with profound physical and intellectual impairment. Dotsy is passionate about helping family caregivers navigate communication with healthcare providers due to her struggle to be respected and ‘heard’ by healthcare providers. Dotsy’s recently born granddaughter (8 Months), Sofia, was born with Hypoxic Ischemic Encephalopathy due to birth complications and is focused on supporting her daughter through the ‘unknowns’ of development.

As a 2022-23 LEND fellow, Dotsy was mentored by Kira Dies and Sylvia Lewinstein at the Translational Neuroscience Center and became a member of the Neuroscience Family Advisory Council. Dotsy is thrilled to communicate with researchers that value family input.