Parental persistence leads to discovery of son’s rare genetic neurodegenerative disorder

Twins Ben and Jack Negele, aged two and a half, came into the world at a time of uncertainty and great fear.

“They were born in April 2020; that was right at the height of it all, there was a period where I didn’t know I was going to be there for their births,” said their father, David Negele.

The Covid-19 pandemic had been declared six weeks earlier.

Somehow, first-time parents, Amber and David, survived. They stayed safe and healthy while doting on their new babies.

“They’ve been completely different since the day they were born. Benny’s always been the goofy, rambunctious, wants to rough you up bro. Jack’s the more reserved one, honey,” David said.

Anyone who has twins will tell you that it’s almost impossible not to compare them. As Ben was learning to do more and more things, moving faster than Jack, Amber and David began to wonder if something was wrong.”

“About a year ago, I started giving him a facial, so he has very thick brows, which none of us have,” Amber said. “Her nose on hers is a little bit wider. Just real facial features and it’s like you’re going down a rabbit hole.”

During those countless Google searches, Amber learned about something called Sanfilippo syndrome, a rare genetic neurodegenerative disorder. People with the disorder lose the ability to do everything they have learned to do, everyday things like walking and talking.

Doctors thought it highly unlikely that Jack suffered from this rare disorder.

The little boy had tubes placed in his ears, as some thought he might have hearing loss. He saw a gastroenterologist, a cardiologist, and a neurologist, and was even tested for autism.

Nearly a year later, there was still no diagnosis, but Amber and David refused to give up.

“I kept pushing and pushing, and our pediatrician was willing to give the orders, even when he was worried, he said, ‘We’ll do this if it makes you happy, but I don’t see a reason for it. ‘”

Jack finally underwent genetic testing in October of this year. A few weeks later, a phone call came in from a genetic counselor with the results.

“She just said, ‘I don’t know if you’re familiar with Sanfilippo syndrome, but your son is positive and he’s type A.’ I was at work and I just fell in love because I knew all about it because it had been on my mind for almost a year and that was the only thing, please God don’t let that happen,” Amber said.
Amber called David after learning the results.

“I’ll never forget it, I was at work too, he texted me and said, ‘I need you to come home,'” she said. “I knew we were waiting for evidence. In my mind I knew what it was, but I just hoped it was something else.”

Children with Sanfilippo syndrome are born with a genetic defect, a change in their DNA that causes their bodies to lack a necessary enzyme. Without that enzyme, they can’t break down heparan sulfate, a natural cellular waste, and their brains clog with toxic levels. Typical life expectancy is between 10 and 20 years.

“That whole week I think we were grieving and mourning a child who is here, just knowing that the future we saw is not going to look the way we thought,” Amber said.

All the things this Commerce Township couple envisioned for their children suddenly changed.

“Playing sports together, growing up together, being each other’s best men at their weddings, all the things we’d thought, you know, when we had twins, were going to be the case,” David.

About a week after the diagnosis, the Negeles met with the doctors and were surprised to find that there wasn’t much anyone could do for their son.

“Basically there’s no cure for this, go home and love your son, which is like they gave up before we even had a chance to fight for him,” Amber said.

As things stand now, Jack will lose all the cognitive skills he has learned in his short life.

“It’s like you have enough time to fall in love with this kid, watch him walk and talk and then you have to watch him slowly being taken away. It seems like a nightmare,” Amber said. “Right now, at least we have a chance for him to still say I love you, still say mommy, daddy. I make sure I record it because I don’t know the last day he’ll be able to say those things.”

Now as active members of the Cure Sanfilippo Foundation, Amber and David connect with other families and share their painful story in hopes of teaching others about this rare medical condition. They hope that by raising awareness, they will be able to raise more money to help pay for life-saving medical research so that Jack can grow up and age with his brother.

“Now we’re just trying to pray that something will come along, a gene therapy, a cure, something,” Amber said.

Learn more and donate to the Cura Sanfilippo Foundation here.

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