Charlie’s Story

As told by his Mom, Danielle

Charlie’s Journey: Strength, Smiles, and Rare Disease Courage

It’s no secret that being a mom feels like the hardest job in the world. Some days, it feels like the most magical. And then there are days with Charlie — my little warrior — when it’s both at the same time.

Charlie turned 7 this year, and anyone who knows him knows he does it all with a smile that can melt your heart.

Our journey hasn’t been easy. At 3 years old, Charlie woke up multiple nights in a row, vomiting and unaware of who I was. An on-call pediatrician was concerned and ordered a stat EEG — by that afternoon we had a diagnosis of epilepsy. We transferred to CHOP for his care, where we were still met with no answers and worsening seizures. At his worst, Charlie experienced seizure activity every 30 seconds, both awake and asleep.

We then made multiple trips to the Mayo Clinic in Minnesota for a neurosurgery workup — thousands of miles from home by car. The recommendation was surgery that would have made him legally blind, with only a 50% chance of even partial seizure relief. When I was unprepared for that – it ended up being a miracle for him. Within a few months, through a series of spinal taps and multiple test results, Charlie was diagnosed with Hartnup disease — a rare condition so severe that the U.S. had never seen this level of symptoms before. He experiences boils all over his body when exposed to sunlight, refractory epilepsy, loss of bowel control, neurodivergence, loss of skills, and so much more.

Today, Charlie is under the care of the NIH, being explored through a zebrafish model, and is officially defined as a Government Research Asset — a status that ensures his care and research continue to advance, even amidst limited staffing or government challenges. 

Being Charlie’s mom has made me a fierce advocate. We have found our ways of advocating – blogging online, presenting at the NIH, hosting annual “Purple Day” ice cream socials, making shirts and collecting soda tabs in town for our many stays at the Ronald McDonald House.  I’ve learned that it’s okay to ask for help, to lean on community, and to celebrate the victories — big and small. Building a tribe that can help you get through times like these is irreplaceable. And sometimes, it’s okay to just stand in awe at the incredible human this little boy is becoming.

Kind words you would like to share with a parent or someone newly diagnosed:
To parents walking this path, to families navigating rare disease, and to everyone who supports research and awareness: keep going. Keep loving fiercely. Keep celebrating the wins. Never be afraid to trust your gut, continue searching for answers and most importantly – never give up. 

Charlie may be just one rare disease, epileptic boy, but his courage, heart, and joy are enormous.  I’m learning so much for the community of medical moms who feel similar things – good days and bad days included – and I am happy to continue connecting and sharing our journey. 

Connect with Charlie’s Mom, Danielle:
Facebook: Charlie’s Crushin Epilepsy