At LDA Research, we know that behind every data point is a real person, a real family, and a real story.
We’re sharing one of those stories from Mariah from Minnesota, USA. It’s a story about her, her son and navigating a rare disease diagnosis, the challenges of accessing specialized care, and what she’s learned about the patient and caregiver experience from the inside.
Read part 2 of her story below.
What Marcus’ diagnosis has taught Mariah as a rare disease parent.
This journey has changed our lives. This condition reshaped my identity. Plans change. Dreams shift. I’ve had to become more than just a mom.
As his parents, we are Marcus’s advocates, nurses, therapists, teachers and most importantly, his safe place. We’ve learned that we can’t sit back and wait quietly for change. We have to speak up for what we see occurring in Marcus’ day today and advocate for what he needs.
Our days are packed with therapies, appointments, medications, and constant monitoring especially at night. Sleep is never deep, because I’m always half-awake, listening for seizures or signs that something might be wrong.
Marcus has taught me what strength truly looks like. His joy, even on the hardest days, keeps us going. Our victories may seem small to others: a smile, a new word, a better night but to us, they’re everything.
It’s made me more patient, more present, and more determined to help the world see Marcus not for his diagnosis, but for the light he brings.
We had to face the reality that this wasn’t just a phase, it was a lifelong journey. And while we have had our own emotions to process, we’ve stayed grounded in one important truth: this is Marcus’s journey.
Our role is to support him, guide him where we can, and help him build a life full of possibility, dignity, and love. But at the end of the day, this is his path we’re just lucky to walk it with him and help set up him for success.
We work hard to stay just as tuned into Grayson’s needs; making sure he feels seen, not just as Marcus’ brother, but as his own whole self. There are times he’s had to be patient, times he’s come second during medical emergencies but in the midst of it all, he’s growing into a deeply compassionate and empathetic young man.
Through it all, Marcus is showing us what it really means to love deeply, to advocate boldly, and to celebrate the smallest victories as the biggest wins. He’s teaching us every single day how to live with heart.
Mariah’s Healthcare System Thoughts
Since Marcus’ GRIN2A diagnosis, I’ve learned just how hard a parent has to fight to be heard and how unprepared the healthcare system is for families like ours. Growing up, I believed doctors always had the answers. And while I still deeply respect Marcus’ paediatrician, that trust has been tested time and again with other providers.
We’ve often been dismissed when sharing real concerns about Marcus’ development or health. I’ve been told, “That’s just his age,” or “Let’s wait and see.” I’ve been gaslit and made to feel like I was overreacting—even when I was advocating for my child’s safety and well-being.
In rare disease care, I’ve learned that the system simply isn’t built for Marcus. Nicholas and I have become the case manager juggling multiple specialists who don’t communicate with one another, coordinating care, managing conflicting medical opinions, and piecing together information to do what’s best for Marcus. It’s exhausting and unfair.
What’s been most painful is hearing completely contradictory feedback from providers. I’ve been told Marcus is too complicated and above their pay grade. I’ve also been told he’s not complicated enough to warrant intervention that I’m being dramatic, or that things could be worse. And while I would never minimize or compare another family’s pain, this is our journey, and this is our worst.
The first thing I would change is how parents are heard, believed, and respected in the healthcare system, especially parents of children with rare or complex conditions. We are not just caregivers; we are experts in our child. We see what others don’t. We carry the full picture, even when providers only see a single piece.
Families like ours should not have to fight to be taken seriously. We shouldn’t have to translate between specialists or prove that our child’s needs are valid. What we need is a system that:
• Listens first, without judgment or dismissal
• Coordinates care across disciplines
• Respects the lived experience of rare families
• Offers support, not skepticism
If the healthcare system could do just one thing differently, it would be to center the voices of patients and caregivers do not minimize them. Because no one knows Marcus better than we do.
And this isn’t just Marcus’ journey it’s mine and Nicholas’, too. We walk alongside him every day, and all we ask is that the system meets us there with openness, compassion, and the belief that our story matters.
