In August 2013, our family experienced every parent’s worst nightmare. Sweet Iris was diagnosed with a terminal degenerative neurological condition called Juvenile GM1 Gangliosidosis at age 5.
Prior to the diagnosis, at Iris’ first preschool parent teacher conference, her teacher suggested we seek a medical assessment of Iris’ balance and motor skills. At the time, Iris could not pedal a tricycle, nor could she jump with both feet off the ground. She did not run as quickly as other children. The teacher also noted that Iris had fallen out of her chair in the classroom several times.
As parents, we had noticed the same delays. Our pediatrician suggested we initiate occupational therapy. The occupational therapist suggested we also start speech therapy and consult a pediatric neurologist. There were no available appointments with the neurologist for 7 months. When the neurology appointment finally came, we were told that Iris’ development was normal and that further testing would likely be inconclusive. We were told simply to continue with occupational and speech therapy.
At Iris’ 5 year check-up, our pediatrician became deeply concerned when he noted a change in her gait and the way her tongue moved when she spoke. We were told to see a developmental pediatrician and we were referred to another pediatric neurologist. The developmental pediatrician misdiagnosed Iris with athetoid cerebral palsy.
Just a few months following this initial diagnosis, the second neurologist diagnosed Iris with GM1 Gangliosidosis based on an MRI and a lysosomal storage disease enzyme panel. The enzyme panel was conducted a second time to confirm the diagnosis. Finally, we were referred to a genetics doctor to confirm the diagnosis using DNA analysis.