The story of Denise Marsh
Brynn and Brett are our fourth and fifth children of six. Growing up in rural Mississippi wasn’t exactly the best place to get answers 15 years ago for our boys. Hypotonia was just a lazy baby, developmental delays were brushed off as a result of having older siblings, regression was ignored and nocturnal seizures were misdiagnosed as “night terrors.” Our journey to diagnoses was slow and required a multitude of family physicians, 9 neurologist, 2 Epileptologist and 3 geneticist. Both boys were eventually diagnosed with refractory epilepsy around age 9. Today they have VNS implants and have been through many medications. In 2018 we received a diagnosis of HIVEP2 related disorder after running the WES test again. We are the only people in the world known to have the exact mutation we have, so we hope that others will be found. The exact mutation is p.G2233E (aka c.6698 G>A). The journey to getting a rare diagnosis can be difficult, but as technology advances it is getting easier! Today Brynn is 21 and Brett is 16, doing exceptionally well with current medications and supplements. Our motto is “Never Ever Give Up, Always Always Look Up!”