Make sure every EPP child has a chance to be a kid

What Waiting for Bitopertin Approval Means for Families Living With EPP

I am the mother of a fourteen year old boy living with erythropoietic protoporphyria (EPP). Before EPP entered our lives, I didn’t understand how completely a rare disease could reshape not just a child’s life, but an entire family’s daily decisions - where we go, when we leave the house, what we say yes to, and what we quietly decline.

My son is at an age now when kids are supposed to be expanding their world - becoming more independent, more social, more confident. Instead, his world has been defined by boundaries. Middle school is full of moments that build friendships: field days, outdoor sports, pep rallies, trips, and celebrations that take place outside. For most kids, these are just fun. For a child with EPP, they are choices with consequences.

For our son, summer means watching from the sidelines. It means not going to a pool, not going to the beach until sunset, not being able to casually say “yes” when friends make plans outside. It means learning to self-exclude to avoid pain. As a mother, I see how that isolation builds. I see how the invitations eventually stop coming, not out of cruelty, but because it becomes easier for others to plan without him.

This fall, my son will start at a new high school. That transition is hard for any child. For a child with EPP, it comes with added weight. To stay safe, he will need accommodations. He will need to avoid outdoor activities, ask for exceptions, and explain himself to adults and peers he barely knows. Instead of being known first for who he is, he risks being known first for what he can’t do.

We have followed the development of Bitopertin closely because it represents something families like ours have been waiting for: a therapy that addresses the underlying cause of EPP, not just the consequences. Bitopertin represents the possibility of a different adolescence for our son. Not a perfect life, but a more normal one. One where he doesn’t have to calculate every step outside. One where he can participate without fear. One where his life is defined by experiences, not by avoidance.

When the approval of Bitopertin was delayed, families didn’t just feel that delay on paper. We are living it day by day. Months become missed milestones. Seasons become lost opportunities.

Childhood keeps moving forward while we wait, until it eventually evaporates.

As a rare disease community, let’s work together to make sure every child with EPP has the chance to be a kid. Let’s let our voices be heard and get Bitopertin approved!!