A Rare Collection – New Beginnings

Once Upon A Gene

A Rare Collection – New Beginnings

January 19, 2023

A Rare Collection – New Beginnings


A Rare Collection – New Beginnings

There’s power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. 



When your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive and fatal disorder that causes mental and physical deterioration. Children lose the ability to perform skills such as walking, talking and swallowing. There’s not currently a treatment or cure. The day Logan was diagnosed, I learned life doesn’t always go as planned. The picture perfect future planned in my head was gone. I grieved my child and the future I thought we would have. I was scared of the new future and I closed myself off emotionally. I can’t change what the future holds for Logan, but I don’t want to miss up on feeling the love, joy, and even the sadness that comes along with this new beginning. I live in the moment and when something goes wrong in life, I yell “plot twist” and move on. 


In Emily Rapp Black’s memoir, The Still Point of the Turning World, she describes parents of terminally ill children as dragon parents. Like medieval map makers inscribing unknown regions of the world, we represent a parent’s worst fear- the grief of receiving a death sentence for their child. My daughter Violet passed all of her newborn screenings in the hospital, but I soon became concerned with how sleepy she was and how difficult she was to feed. Our pediatrician referred us to a neurologist who ordered a brain ultrasound and genetic testing, but the results didn’t offer any answers. With more symptoms developing, I sought out more opinions and Violet was finally diagnosed with a rare and fatal mitochondrial disease called pyruvate dehydrogenase complex deficiency (PDCD). My transition and new beginning as a dragon mom had already begun as I flew around every last corner of the internet hunting for answers, ready to breathe fire upon anyone who tried to harm my daughter. Violet is a powerful unicorn teacher and I am her fierce and loyal dragon.


My son Calum has rare chromosome abnormalities. His first seizure was scary and opened a chapter full of new beginnings. As his dad, this chapter taught me to be grateful and to have a perspective that allows me to celebrate every moment I can. Calum’s first seizure was an awakening. I realized that I needed more opportunities and experiences with my kids and to focus more on them and less on myself and my work. We celebrate every day like the new day it is and Calum has given me that perspective.





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