No days off: Living in the fire as a rare disease parent

Some mornings I wake up and wonder what it would feel like to breathe without urgency. To pour a cup of coffee without checking a seizure monitor. To not have my heart in my throat while waiting for a doctor to call me back. I wonder what it would be like to live a single day that didn’t revolve around survival.

However, that’s not my life, nor that of my children.

Our world is shaped by rare diagnoses, emergency visits, surgical prep, and advocacy that never ends. It’s holding one child’s hand through pain while scheduling another’s next lifesaving procedure. It’s keeping track of medications, court hearings, feeding schedules, and wounds, both physical and emotional, all at the same time.

There is no pause. No reset button. Just forward. Always forward.

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My son, Juju, has CLN2 disease (also known as late infantile Batten disease), a rare neurological disorder that robs him of so much. Right now, we’ve been trying to help heal a wound behind Juju’s knee that never should have happened. It’s not just a scrape or a pressure sore. It’s a deep, raw injury caused by a cast that was supposed to help him recover from ankle surgery. Instead, it broke his skin and left him in pain.

To care for the wound, we were told to go to the emergency room. As if I didn’t already spend my life in one hospital or another. As if I had nothing else to juggle. But Juju’s pain doesn’t wait, and neither can I.

Juggling my children’s care

While caring for Juju, I’ve also been preparing for the Glenn procedure, an open-heart surgery for my 17-month-old daughter, Serenity. She was born with a critical heart condition called pulmonary atresia with intact ventricular septum. The surgery is meant to help her tiny body function as it should. She should be playing with toys and taking her first steps into toddlerhood, not facing another major medical trauma.

And then there’s our teenager. She’s currently in a secure juvenile facility receiving treatment for emotional and behavioral struggles. That situation has come with its own heartbreak and weight. Court dates. Legal battles. Therapy sessions. Probation violations. This part of our life is another crisis layered on top of the medical storms. It’s too much for one family to carry, but we carry it anyway.

We live in constant motion. If I’m not fighting for Juju’s proper care, I’m emailing doctors about Serenity’s heart or attending a meeting about my teen’s treatment plan. My hands and heart are always full. Some nights I cry in silence after everyone is asleep, wondering if I’m doing enough. Wondering how I’ll find the strength to do it all again tomorrow.

People tell me I’m strong. Strength isn’t something I wake up with; it’s something I fight for. It’s built out of love, urgency, and refusal to give up on my children.

Juju’s wound should’ve never happened. Serenity deserves a childhood free from operating rooms. My teenager should’ve had the support she needed before her trauma became a case file.

I don’t want pity. I want change. I want healthcare providers who listen. I want systems that see our children as more than patients or problems. I want space to grieve and breathe without having to beg for it.

This is the fire we live in.

And even in the middle of it, we’re still standing. Still loving. Still showing up.

Every single day.

Note: Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Batten disease.