Parent Perspectives: Insights into Medical Decision-Making

Executive Director and Co-founder of the International SCN8A Alliance and DEE-P Connections, dedicated to advancing SCN8A research and improved outcomes across the rare epilepsies consecutively. Gabi has dedicated her career to advancing public health and transitioned to working in epilepsy when she had her son, Elliott, in 2012 who lives with a very severe form of SCN8A-DEE. Gabi earned her Master of Public Health (MPH) from Columbia University’s Mailman School of Public Health in 2007. Her professional acumen is further accredited with a PMD Pro program management certification, reflecting her capability to lead complex projects to success. Gabi channels her extensive experience and strategic thinking into action to promote progress and improved outcomes. Her focus is on driving impactful change, focusing research, galvanizing the medical community behind a unified plan of action, and relentlessly advocating for transformative care and treatments that bring improving quality of life to those with SCN8A and DEEs.

Lindsey is a wife and mom of two young boys, Hudson (5) and Noah (2). At just five days old, Hudson was diagnosed with Hypoxic Ischemic Encephalopathy (HIE for short). HIE means that Hudson went without oxygen or blood flow for a period of time resulting in a brain injury. HIE has lead to many secondary diagnoses for Hudson such as Epilepsy, Cerebral Palsy and CVI. Lindsey is no stranger to having to make hard decisions. From Hudson’s g-tube in 2019 to his trach in 2024 and lots of decisions in between, Lindsey understands the heaviness that comes from decision making. Lindsey has found healing in sharing her family’s journey online and wants families like hers to know they aren’t alone, but she also wants them to know that despite it all - Life is still beautiful.

Megan is the proud mom of 14-year-old Khloe, who lives with SCN8A. Diagnosed at age 12, Khloe also experiences autism, epilepsy, behavioral challenges, low muscle tone, and GI issues. She relies on a G-J tube, ileostomy, central line for TPN, and other interventions to stay comfortable. Living in Indiana, Megan has spent years navigating complex care decisions and has become a knowledgeable advocate. Her journey—both before and after diagnosis—makes her a valuable resource for families facing similar challenges. As a Family Ambassador with the International SCN8A Alliance, Megan supports others with empathy, firsthand experience, and a deep commitment to helping families feel informed and empowered. "Helping families not feel so alone is important. My main goal is to empower families with educational materials for the improved quality of life for their child."

Allie Schumacher is a busy wife and mom of 4 that includes her bonus daughter Stella (13), daughter Paisley (7), son Waylon (6) and Colton (3). During Colton’s pregnancy, complications started arising that led to a delivery at 34 weeks and NICU stay. Despite doing all “typical” screens to check for any genetic conditions, every test came back as normal- but Colton was far from anything they experienced in their other children. What started as a discussion for an NG feeding tube as a temporary intervention at 12 weeks old as doctors tried to sort out his feeding and growing difficulty, led them into the gateway of an endless rare disease journey. As a diagnosis of rare disease CRELD1 finally came, so did G-J tube placements, port placements, BiPAP vent dependency, and some really challenging discussions about what life will look like for their son with each new intervention introduced. With a child with complex medical needs that include multiple types of emergency plans, Allie’s journey with medical decision making hasn’t been easy. As the years have gone on she and her husband have found ways to help balance coping with the sadness and feeling at peace knowing each decision is made out of love for Colton.

Jennifer Siedman is a mom to three children. Her middle son Ben was diagnosed with Sanfilippo Syndrome in 1997 and passed away in 2014. Sanfilippo is a neuro-degenerative condition and during the course of Ben's life Jennifer and her family considered g-tube placement, spinal fusion and in Ben's final hours the decision to remove him from a ventilator. In her role at CPN, Jennifer has worked with patient organizations, industry and clinicians/researchers to bring greater attention to the need for decision making support for families. Her premise is - to truly support the caregivers, we must better support them in their decisions.