Camden’s Visit to the Children’s Hospital of Colorado: A Journey of Hope and Hard Realities

We recently traveled to Children’s Hospital of Colorado, embarking on two intense days filled with appointments and evaluations. For the first time, Camden met with a team of physicians and caregivers familiar with SYNGAP1. It was overwhelming in many ways—both heart-wrenching and refreshing. Surrounded by experts who truly understood Camden’s needs, we felt a profound mix of gratitude and relief.

Day 1: Confronting Camden’s Delays

Our first day focused on neurodevelopmental assessments, and the experience was raw and emotional. One doctor carefully went through Camden’s developmental history, covering each milestone, each current struggle, and every gap in his abilities. Another doctor observed as Camden interacted with toys and responded to prompts, painting a clear picture of his developmental path. We’ve always understood Camden’s challenges, but hearing them laid out so clearly was difficult. Each question and observation was a reminder of how far he lags behind his peers.

While we are proud of his growth, seeing Camden’s development through the objective lens of a specialist was a heavy realization. It was an emotional reminder of the reality we face, yet it also deepened our resolve to keep seeking the support and resources Camden needs.

Day 2: Finding Understanding and Guidance

The second day was brighter. We met with a multidisciplinary team of therapists and specialists who not only assessed Camden’s abilities but also provided hope. Occupational, physical, and speech therapists evaluated him, identifying areas for growth and independence. Their empathy, knowledge, and optimism about Camden’s potential gave us new strength.

We also met with a neurologist, geneticist, and genetic counselor, who discussed Camden’s specific mutation and the recent uptick in his seizures. They outlined upcoming tests and potential medication adjustments, helping us feel reassured about managing these challenges. Finally, a pediatrician specializing in complex conditions reviewed Camden’s nutrition, giving us guidance on his diet to support his development.

Our Mixed Emotions: Vulnerability and Hope

This journey to Colorado was a rollercoaster of emotions. We arrived hopeful, grateful to have expert guidance, but facing Camden’s delays so plainly left us feeling vulnerable. As parents, moments like these stir up feelings of helplessness, despite our daily efforts. But just as our spirits wavered, the therapists reminded us of Camden’s potential and his many strengths. By the end of our sessions, we felt lighter, more equipped, and reassured by the support we found there.

Leaving the Children’s Hospital of Colorado, we felt grateful to have such a knowledgeable team supporting Camden. We now have expert advice to guide our local doctors, therapists, and schools in understanding and meeting Camden’s unique needs. We look forward to returning each year, sharing Camden’s progress, and learning more about his condition.

As we process the detailed notes and plan our next steps, we are filled with a renewed sense of purpose. Our journey with Camden continues, and with the support of these incredible professionals, we are hopeful for what lies ahead.

Why Clinics Like This Matter

SYNGAP1 is a rare disorder, but children and families affected by it face immense daily challenges. The Syngap Research Fund (SRF) is tirelessly working to create a future where more families can access the specialized care they need. These clinics are crucial, offering life-changing insights and a supportive community for families navigating a rare diagnosis.

The Path Forward: Building a Future of Hope

SRF’s mission is clear—to build clinics across the country where children like Camden can receive expert, specialized care. Advances in genetic therapies offer a path to new treatments, and these clinics are essential in bringing that hope to life. Here’s why these clinics are essential:

• Building a Knowledge Base: SYNGAP1 clinics serve as knowledge hubs, helping doctors and researchers deepen their understanding of this rare condition. Families like ours rely on these insights to navigate an uncharted path with clearer guidance.
• Access to Trials: Clinics with SYNGAP1 expertise are poised to conduct clinical trials, opening the door for potential therapies to reach all children affected by SYNGAP1.
• Multidisciplinary Care: SYNGAP1 care often means piecing together specialists independently. These clinics bring experts under one roof, coordinating neurology, genetics, therapy, and more in a streamlined way that would be difficult to assemble otherwise.
• Data for Regulatory Approval: These clinics gather essential data to accelerate the approval of new treatments, allowing SYNGAP1 therapies to reach families more quickly.

How You Can Help: The Coast-to-Coast Challenge

SRF has recently launched the Coast-to-Coast Challenge, a nationwide fundraising effort with the goal of raising at least $500,000 by year’s end. These funds will allow SRF to establish SYNGAP1 clinical sites across the country, bringing us closer to a future where specialized care and innovative genetic therapies are within reach for every family impacted by SYNGAP1. These sites are vital to help more children like Camden and others across the country who deserve a better quality of life.

By contributing to the Coast-to-Coast Challenge, you’re directly supporting the creation of these clinics. You’re helping to fund the resources, care, and community needed to bring lasting change and hope to Camden and countless other children affected by SYNGAP1.

Thank you for standing with us on this journey. Your understanding and support mean the world to us.

With love,
Craig and Sara