Sam’s Story 

Sam is an eight-year-old boy from Indiana. He is extremely happy, loving and friendly. In fact, he makes friends with everyone he meets!! He is able to walk independently, speak and has an amazing sense of humor.

Variant c.4982 G>A (p.Arg1661His)
Other genetic variants: 
Prickle1: c.2105 G>A (p.Arg702Gln)
Polg: c.3708 G>T (p.Gln1236His)

History 

We had concerns during Sam’s infancy as he was not meeting developmental milestones at age- appropriate levels. Our epileptologist recommended the epilepsy genetic testing panel, which led us to find his genetic mutations when he was six years old. Our greatest concerns are Sam’s struggles with speech and feeding. He has expressive speech delays and difficulty with articulation, making it challenging to understand what he is trying to communicate. He also has delayed processing, which can make conversations and learning difficult. Sam has mild baseline ataxia, balance issues and fine motor delays due to an intention tremor. 

Sam also has a history of seizures (absence, tonic clonic, myoclonic), silent aspiration, migraines, nystagmus, episodic ataxia, reflux, ADHD, and cognitive delays. He had a g-tube from 16 months until 3.5 years of age.

Therapies

Sam started physical and occupational therapy before six months of age and we added speech when he was nine months old. They have all been beneficial and he continues them to this day. We’ve also done episodes of behavior counseling and parent-child interaction therapy. Sam is home-schooled and receives no public school based support services. All of his services are on an outpatient basis

For Those Newly Diagnosed 

Do not give up! Follow your gut. If I didn’t listen to my momma gut, we’d still be searching for a diagnosis. Sam has changed our lives in amazing ways. His delays do NOT define him. He defines himself. Keep pushing forward even on the “hard” days. The progress peeks around the corner when you least expect it.