Having an ultra-rare disease can feel like living alone on an island. For a family from Cyprus, a small island nation in the Mediterranean, navigating their son’s intense medical challenges has been exceptionally isolating.

With years of hard work and support from her family and therapists, Amelia learned to walk.

I remember the first words from our neonatologist in the NICU: “Your child has dysmorphic features.” After a completely normal, full-term pregnancy, I was in a state of shock.