Fighting rare diseases: New Hartford boy’s battle with Ohtahara syndrome

Fighting rare diseases - Ohtahara syndrome
Published: Apr. 27, 2023 at 5:54 PM EDT
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NEW HARTFORD, CT (WFSB) - We’re just two days away from Saturday’s walk and in honor of Denise D’Ascenzo, we’re highlighting yet another amazing person who suffers from a rare disease.

We bring you a 7-year-old boy who shines a light on everyone he meets.

Christian is a 7-year-old boy. He lives in New Hartford with his four siblings and his parents.

He’s battling a serious rare disease and his parents say of course every day with him is a major blessing, but there are still some major hurdles and obstacles they have to get through daily.

Since the day he was born, his mother knew something wasn’t right.

“Within the first 24 hours of him being born, I noticed his body really tensing and turning in ways that would be abnormal for an infant,” said Erica Mumm, Christian’s mother.

Christian was diagnosed with Ohtahara syndrome, a rare form of epilepsy, that’s paired with KCNQ2, a genetic mutation, causing multiple seizures a day along with developmental and cognitive delays. He needs 24-hour care.

“That affects Christian as far as physically, as far as cognitively and his seizures will be pervasive throughout his life,” Erica said.

Christian and his twin brother are the youngest of five.

“Our running joke in the family is that Connor, his twin brother absorbed all of his verboseness, all of his physical running skills, all of his language ability,” said Erica.

His parents, Erica and Edward Mumm, have spent these last seven years navigating the unique journey of having a child with a rare disease.

“From the beginning, we just accepted it and understood right away that this is going to be a difficult process but yet a manageable process,” Erica said.

Overcoming the traumatic first days and months to now celebrating every moment, big or small.

“The same excitement of starting a first day of school for Christian was just as prominent as it would be for any of the other kids and we celebrated it in that same way,” said Erica.

“Seeing some of the advancements and some of the things that he is capable of doing, even on the small things, is a huge thing for us as parents and brings us a lot of joy to see that,” said Ed Mumm, Christian’s father.

The entire Mumm family has learned to embrace the ups and downs.

What they once knew is no longer, but they know they’re not alone while navigating these challenges.

“You are rare. You are one of a kind. And it can be lonely but at the same time when you open up the lens and see how many of us live with rare disease every day, collectively we are a very, very large group. That is what we celebrate when we do Denise’s walk,” Erica said.

For information on the Denise D’Ascenzo Foundation’s Walk to Cure Rare Diseases, click here.