Some things are easier said than done, especially when it is a reality you may face every day. For the parent of a child diagnosed with an ultra-rare disease such as thymidine kinase 2 deficiency (TK2d), it’s easy to internalize responsibility. Extreme guilt shows up in varied overwhelming ways, whether it is wondering if we missed a red flag along the diagnostic odyssey or — worse yet — pondering if it was something awful that we passed down to our own children. The emotional toll of such a diagnosis is heavy.
Understanding the nature of TK2d
When my son Jeremiah first got his diagnosis, there were so many questions as to what caused it. Most opinions were (bluntly put) uneducated, and there were moments when I felt the guilt and weight of blame.
I was in my late 30s with three boys already, and the pregnancy took a great toll on my body. Jeremiah was my first successfully breastfed child and I was so proud, but not for long. Prior to his diagnosis, I recall him getting weaker and someone telling me it was my milk supply. They questioned my diet and suggested switching him to formula. As I had a front-row seat to his decline, I also wondered if my body was just too old and had somehow compromised the pregnancy. Once the diagnosis of TK2d came, I struggled with the idea that I “passed something on” to my own child.
Over time, I came to realize that genetics are not a choice. His disease did not come from neglect or failure, not from something I may have overlooked or my diet: It simply came from biology. We all carry variations in our DNA, most of which we will never know about. For a rare disease like TK2d to occur, specific variants have to come together in a way that not even advanced testing can predict. TK2d is a rare genetic condition caused by mutations that affect mitochondrial DNA maintenance. It is not caused by parenting decisions, environmental exposure or something overlooked during pregnancy or early childhood. It is not something we as parents caused intentionally or absent-mindedly.
The trap of hindsight
Guilt thrives dangerously in hindsight, those moments of afterthought that trap us into holding ourselves to an impossible standard. Once a diagnosis is finally made, it can feel like all the signs were there waiting to be recognized, and yet we were unable to do so. A missed milestone, a moment of fatigue, a subtle regression — these memories can replay with painful clarity, because as parents we witnessed it first-hand.
I had recorded Jeremiah’s regression over time. After his diagnosis I replayed the videos and I relived those moments, always trying to see what I had missed.
To this day, seven years later, I record a lot of his life and take pictures often, but now it’s to develop my own database of symptoms and signs, since there is no natural history study, guidebook, or even longitudinal datasets for his rare disease as yet. Paired with the emotion of uncertainty, at least I can now reflect, and I feel better equipped to advocate for my son and others.
How guilt affects the journey forward
Holding onto guilt can make it harder to accept support and celebrate small victories. It robs you of important things like hope. We may even find ourselves burnt-out trying to “make up” for something that never needed to be made up for in the first place.
For me it was important to name and identify the feeling, but then shift my perspective to better advocate for not only my son, but for others affected by rare diseases. I had to make space emotionally because it was a necessary step toward sustainable care. For us to be better advocates, we have to shift the focus more to the “after the fact of” clarity, educated understanding, newfound resilience and unique hope regarding the diagnosis.
A changing future for TK2d families
Increased awareness, earlier genetic testing and the development of targeted treatments such as Kygevvi are transforming what care can look like. We have a pathway to move from the diagnostic crisis of the disease to comprehensive managed care. There are established support groups globally, patient and family brochures have been developed and even this site is dedicated to TK2d. Social media platforms have patient journeys, and the future is being shaped by shared stories that have stood stronger than guilt ever can.
At the end of the day, you did not cause your child’s diagnosis, but what you can do is choose to advocate, make a difference and continue to show up with love, resilience and fueled hope.
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