The story of Denise
Our two youngest sons (Brynn 25 and Brett 20) were misdiagnosed as having night terrors at around age two. They eventually were both diagnosed with complex partial seizures, they just happened to start nocturnally. The seizures eventually expanded into multiple types both focal and generalized. They both regressed intellectually, one having a clinical drop in IQ greater than 10 points. I questioned whether this could be genetic, but I was for the most part ignored by most physicians. I had to fight for genetic test, and once we saw the geneticist raised a lot of questions about their infancy such as poor muscle tone, poor suck reflex, speech delay, mother delay, and regression of skills… Two Geneticist, four Epileptologist, Six Neurologist, PT, OT, Orthopedics, Speech, Psychologist… no one had answers. The answers finally came 15 years after the questions started, 13 years after the seizures started through a second WES test. HIVEP2, p.G2233E (aka c.6698 G>A). The youngest child (Abigail 14) of our six children was diagnosed with Autism Level 2, and once again I had to fight to have her tested. She too was found to have the same mutation in HIVEP2, and eventually diagnosed with epilepsy as well. The journey to diagnosis was difficult, and managing care with an unknown condition is not easy. We still have various symptoms that are not explained. I am extremely grateful to the handful of amazing physicians we have been blessed to have care for our Rare children, especially in recent years. Today, we are more determined than ever to bring awareness to Rare Disease, knowing that sharing our journey can prevent another family from having as difficult a road to diagnosis.