Josiah

Josiah's Story

Josiah is a sweet, curious, strong little boy with a personality that can light up a room. He loves 
to explore, play, and experience the world in his own way. He may be timid at first, but once he 
warms up, his personality shines through. To everyone who loves him, Josiah is so much more 
than his diagnosis. 

At just 14 months old, Josiah was diagnosed with Hunter syndrome. We knew something wasn’t 
quite right, but for a long time the symptoms seemed like separate issues. Josiah had frequent ear 
infections and upper respiratory infections, and by about six months old he had already 
experienced two PICU stays, one for RSV and another after a stomach virus caused severe 
dehydration. As he got older, we also noticed developmental delays, weakness in his left leg 
which we learned was caused by a shortened Achilles tendon. 

We were referred to a neurologist by orthopedics. The neurologist swabbed Josiah for genetics 
testing, ordered urine testing, and an x-ray bone survey on July 3, 2024. That appointment 
became the turning point in our journey.

 
On July 25, 2024, we received the call that Josiah’s heparan sulfate levels were elevated and that 
he would need bloodwork done as soon as possible to get an answer. Suddenly our lives changed 
forever on August 1, 2024 when we received the call to confirm the diagnosis. 

Our family quickly learned that receiving a rare disease diagnosis meant becoming an advocate 
almost overnight. We have fought for access to treatment, raised awareness about Hunter 
syndrome, shared Josiah’s story, and worked to make sure his voice, and the voices of other boys 
like him, are heard.