A Rare Diagnosis
My husband and I both agree that Friday, February 13, 2015, was the worst day of our lives.
We had endured a six-week diagnostic odyssey for our infant daughter, Victoria. The full weight of our dread settled in a dull exam room with beige walls, where a neurologist gently spoke the two most devastating words we could hear: “It’s Krabbe.” Our six-month-old daughter was dying.
When we pressed the neurologist for options, pleading for something—anything—we could try, she uttered the words that haunt me to this day:
“If you had caught it at birth, you could have treated it.”
In that moment, the various threads of my life—my political science degree, my lobbying experience, and my passion for policy change—suddenly snapped into a single, devastating focus. I went from being a first-time parent desperate to love my child to a parent desperate to re-engineer a broken system. I could not save Tori, but I could fix the machinery that failed her through more rigorous Newborn Screening.
I couldn’t deny that this was always supposed to be my story, even though I would do anything to change it. I had no idea where to start, but I knew I had to take action.
Before I began, however, my husband and I made a decision: we would cherish the time we had with Tori while she was alive. We completed fifty Bucket List adventures, all while learning to be caregivers and managing a household filled with medical equipment. We chose joy during a time when it would have been easier to succumb to grief.
Our adventures with Tori were about more than simply making memories; we were finding light in the darkness. This lesson became a core part of my advocacy: grief fuels the work, but joy sustains it.
Knowing the Why
I know more about Krabbe disease than I know about my daughter, Tori.
I will never know Tori’s favorite color, food, or song. I will never get to hear her talk about anything or say “mama.”
My knowledge of my precious daughter is painfully limited.
Being in the rare disease community is a delicate balance of beauty and pain. Every one of us is on a journey that no one would have chosen. We are all grieving in our own way—grieving the present and the future, mourning what could have been. Many of us feel compelled to make a positive impact in the world due to everything we’ve endured; I certainly do. There’s a deep desire to create a legacy for our child or loved one since they cannot do it for themselves.
While I may not know if Tori liked giraffes, I do know the pain of Krabbe disease and the agony of not having the chance to save my child. I don’t want others to face the same path we did. I want them to have options, like more thorough Newborn Screening, and to hold onto hope.
My lack of knowledge about Tori, along with the trauma I experienced and the loss I endured, motivates me to create a lifetime of memories for others—relieving their burden and offering possibilities. This is what drives me forward daily, both personally and professionally. That is my “why.”
Dreams and Learning Curves
When Tori was diagnosed with Krabbe disease, I felt utterly helpless. Her diagnosis came too late for treatment, and all we could do was wait.
New parents are supposed to think about the life their child will live, not how or when they will die. Yet for most of Tori’s life, we were forced to ponder her death.
After her death, twelve months post-diagnosis, I began advocating for expanded Newborn Screening, driven by a deep sense of urgency to spare others the suffering we endured. I realized that my work would be her legacy, so I set out to build it.
However, that doesn’t mean I had it all figured out.
What I Wish I’d Known Before I Started
Here are a few lessons I learned along the way that may help you.
- Take time to heal: After a diagnosis or a loss, it’s natural to feel a sense of urgency. The impulse to jump right into advocacy is understandable, but it’s crucial to prioritize your family’s well-being and mental health. There will always be time to add your voice to the advocacy community. Don’t let your grief be replaced by distractions—take the time to work through it.
- It’s okay to wait: I’m grateful I waited to begin my advocacy work until after my daughter had passed away. Every situation is different, and you have the power to wait until the moment is right for YOU. We chose to cherish every moment with Tori while she was still here; I knew that focusing on advocacy would distract me from those precious few months. No one will judge you for choosing time with your loved one.
- Know yourself: Recognize your triggers for grief, anxiety, or whatever your situation may be. Understand when to advocate and when to rest. It’s perfectly okay to say, “not this time” when asked to speak or participate in something. Learning about myself has been one of the hardest lessons, but prioritizing my health and well-being must come first.
- Grief can be blinding: If your advocacy stems from personal loss, be mindful of how grief can affect your perspective. It’s easy to assume the worst about others and to misinterpret your painful feelings as objective reality. Recognizing this allows you to step back and respond strategically rather than react emotionally.
- You don’t have to have it all figured out to get started: I eventually built a team through individual conversations that guided me in changing policy in Pennsylvania. Fear can arise from not knowing what to do; take it step by step and one conversation at a time, building your courage along the way. No one expects you to be perfect, even though you may expect it from yourself. Your presence and effort will foster your courage and, in turn, inspire others.
The Invitation
I may not know your personal “Why,” but I understand the weight of the burden you carry. I aim to help you create a blueprint that holds, a system that works, and a legacy that lasts.
A Brighter Blueprint: The Twelve Threads of Effective Advocacy is not a memoir of loss; it is a practical guide for advocates ready to move from awareness to action. This book does not offer quick fixes; they are significant and, at times, challenging. They require a Growth Mindset that embraces discomfort. Throughout my life, I have realized that growth and ease rarely coexist. The discomfort signifies the expansion of your perspective. Growth occurs in discomfort.
If you’re ready to begin your advocacy journey or you’ve gotten stuck somewhere along the way, I encourage you to check out the lessons I’ve learned through my own journey.
***
PAS and Newborn Screening
Accelerating Newborn Screening: From Nomination to Implementation
Newborn Screening (NBS) is a race against time. While a condition may be added to the federal Recommended Uniform Screening Panel (RUSP), the real battle for patient lives happens at the state level.
Patient Advocacy Strategies (PAS) provides the strategic framework necessary to navigate these state-specific complexities, bypass bureaucratic roadblocks, and accelerate the rollout of life-saving screenings.
Our Specialized NBS Capabilities
We offer a comprehensive suite of services designed to move the needle on state-level adoption:
- Strategic Roadmap Development: Custom multi-state strategies tailored to specific rare disease profiles.
- State Advisory Committee Engagement: Navigating the nuances of State NBS Advisory Boards and Technical Review Committees.
- Legislative Advocacy & Policy Reform: Leveraging a decade of experience in state-level legislative strategy to eliminate barriers to screening.
- Stakeholder Coalition Building: Uniting clinicians, industry partners, and patient families to create a powerful, unified voice.
- Gap Analysis & Implementation Support: Identifying and addressing the logistical challenges that delay laboratory rollout.
Proven Expertise in Rare Disease Advocacy
With over ten years of specialized experience—including significant work supporting nominations and stakeholder engagement for Lysosomal Storage Disorders (LSDs)—PAS understands the high stakes of early identification.
We don’t just advocate; we execute. By leveraging our deep expertise in state processes, we help our partners optimize resources, save years of delay, and, most importantly, identify patients sooner.
