Now that my son is seven years old, his growth spurts also bring challenge spurts — and there’s no guidebook on how to handle them.
Recently we got the results of my son’s lab work, and his muscle breakdown values were exponentially increased. I reached out to a few of his doctors, but none seemed to give me enough feedback other than one, who also happened to be the newest on his medical team. I think this can be hard on our rare journeys, as we seek answers when often there are none. We end up being the ones reporting back with the solutions, and it’s a lot of trial and error.
I’ve learned over time to give medical professionals grace, as rare diseases are not textbook. Instead, we become the experts — and sharing our journeys helps create the roadmap for others to follow.
I began sharing my son’s journey on social media (as “Jeremiah Gracen TK2D Warrior”) to help raise awareness for his rare disease. It became bigger than I can imagine, and became inspiration and a guide for others globally. That always tickles me because I am still learning daily, struggling often with complex caregiving, and writing has become my form of release.
TK2D, short for thymidinekinase 2 deficiency, is a rare mitochondrial disease that affects the body’s ability to maintain healthy mitochondrial DNA. In simple terms, it robs muscles of the energy they need to function and affects the ability to eat, move and breathe. It is complex, unpredictable, isolating, life changing and without an established manual; there’s little historical data or natural studies on the disease. The lack of information made the diagnosis even more difficult because there are no textbook answers. But that doesn’t mean that there will never be one…
When my son was diagnosed, I searched desperately for stories and statistics as a guideline for what I needed to do. I wanted to know what the future looked like, and if there was any at all. But there were few voices, and even fewer personal accounts that reflected the daily reality of raising a child with TK2D.
That silence is what made me start documenting, because when there is no manual, you help write one. Documenting my son’s journey was not about broadcasting pain; it was more about building a bridge and sharing the good, bad and the downright ugly. Every hospital admission, every therapy milestone, every setback and every unexpected victory becomes part of a living record that I share globally daily serving three critical purposes: awareness, education and connection.
Awareness saves time: in this case, time saves muscle and muscle saves life. Early and timely diagnosis can make a profound difference in mitochondrial diseases. As treatments and clinical trials evolve, earlier intervention often leads to better outcomes. But diagnosis cannot happen if pediatricians and families have never heard of TK2D. Sharing our story makes the invisible visible and places this rare condition into conversations where it may otherwise never appear. Raising awareness helps push the trajectory from crisis to care, especially now that the FDA has approved the first treatment for the disease.
Rare diseases are terrifying largely because they are unknown, so education is important as it reduces fear. When I explain what a typical day looks like, how therapies help maintain strength, how respiratory support works, how adaptive tools create independence and even share the challenges we overcome such as eating by mouth, it demystifies the diagnosis. It shows that while TK2D is devastating, it is not void of joy, and definitely not lacking hope. Children with rare diseases laugh, learn, love and dream. Similar to my son Jeremiah, they often have quite the personality.
Isolation is also one of the heaviest burdens of rare disease parenting, and connection can help heal it. When families find each other, something shifts. There is relief in saying, “You too?” and hearing, “Yes.” Community does not cure the disease, but it strengthens the caregivers and gives them someone else who finally “gets it.” For me it allowed intimate access to a databank of someone else’s relevant experiences and their solutions to help me with my own son.
There is also a deeper reason I document our journey: Data alone does not drive change — personal stories do. The patient and caregiver voice is the most powerful way to help change trajectories. Even though medical advancements depend on research, funding and policy decisions, those decisions are influenced by human narratives. When lawmakers, newborn screening committees or healthcare providers hear a loved one describe emotional, physical and financial burdens of the disease, it becomes more than an abstract condition in a database. It becomes personal, with a powerful perspective they can feel.
In rare diseases, the patient community often becomes the historian, the advocate and the educator all at once. We collect our own case studies through lived experience and contribute to a collective body of knowledge that did not previously exist.
If your family is navigating TK2D or another rare disease, your voice matters. Share your stories on social media, journal your challenges, participate in patient registries and support groups, connect with advocacy groups and speak up. Your experience may answer a question another parent is too afraid to ask. Your journal may alert a clinician to a symptom pattern or even inspire future research. It may comfort a newly diagnosed family sitting in that same space that you once sat.
Documenting our children’s lives is an act of dignity. Rare diseases can sometimes reduce children to medical charts, lab values, progression timelines. But when we tell their stories, we restore fullness by showing their personalities, their humor, their resilience and remind the world that their lives are not just footnotes.
There may be no official textbook for TK2D as yet, or a comprehensive manual handed to parents at diagnosis for most rare diseases, but together, we are writing one in real time through blogs, interviews, articles such as this, advocacy, research participation and honest conversations. Every shared story becomes a page, every voice adds a chapter and every act of courage fills in a paragraph that did not exist before. And one day, when a newly diagnosed parent searches for answers, they will not find silence. They will find us.
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