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Chicago families and rare diseases

Reset host Sasha-Ann Simons with Rush pediatric neurologist Dr. Elizabeth Berry-Kravis and Matt and Leigh Sims.

Micah Yason

One Chicago family’s fight for their son and against his ultra rare disease

Seven-year-old Charlie Sims loves to sing, dance, play football and basketball and spend time with his parents and older brother. He’s energetic and bright.

He’s also one of 30 million people in the U.S. living with a rare disease, many of which are difficult to diagnose and treat.

When Charlie was four, his parents Matt and Leigh Sims began to notice changes in his behavior.

“Forgetting how to write his name, forgetting certain vocabulary,” Leigh said. “As the years went on, it became more and more obvious, particularly with his memory.”

The family turned to Rush University Medical Center for testing. Charlie was later found to have a rare genetic disorder called CLN1, a form of Batten disease.

“When we got the diagnosis, it was gut-wrenching. It was like having a semi truck drive through your soul,” Matt said.

What is CLN1?

CLN1 disease is a neurodegenerative disorder that’s believed to affect just one in 100,000 people worldwide, according to MedlinePlus.

It’s caused by mutations to PPT1, a gene that produces an enzyme that helps eliminate waste from our cells. When there’s too little of the enzyme, waste builds up and nerve cells can be damaged or lost.

At the time of the diagnosis, there were no approved treatments and no cure for CLN1. The disease was fatal in 100% of cases.

“That was the worst news in the world,” Matt said.

Like many families facing a rare disease, the Sims began to look up everything they could find about CLN1.

During the process, they found Rush University pediatric neurologist Dr. Elizabeth Berry-Kravis.

“They were lucky that someone else canceled. We had moved them up to the number one patient on the waiting list to move them in,” the doctor said. “It was really fortunate. There were a bunch of moons that lined up.”

The Sims also came across a proposed gene therapy for CLN1 that was set for clinical trials in Canada but was halted. That meant some doses of the treatment had already been manufactured and were waiting to be used.

Rush professionals and the biotech company that developed the treatment helped the family apply for a special expanded access study with the FDA. Charlie was the only participant.

After years of searching for answers, Charlie was finally able to receive treatment for CLN1 in October 2023.

“Charlie’s proof that families with rare genetic diseases can have hope.”

Since receiving the one-time gene therapy, Charlie’s PPT1 enzymes are now measuring at normal levels. The hope is that the treatment is slowing down the progression of CLN1.

Dr. Berry-Kravis will continue to check on Charlie’s condition for the next five years, but she’s quick to point out that many other families and patients are living a different reality.

“Treatments aren't easy to get,” Dr. Berry-Kravis said. “They involve working with the FDA and knowing how to design a trial.”

Lags in approval for therapies often leave patients and families in limbo — sometimes until it’s too late. Then there’s the lack of specialists trained to treat rare diseases.

“Even if we work and see patients 24 hours a day, we almost can't fill the need,” Dr. Berry-Kravis said.

Meanwhile, the Sims family is doing what they can to help other families and patients navigate a complicated system.

Better awareness about rare diseases and funding for genetic-based therapies could make a difference, Matt said. As could a more streamlined process for FDA approvals.

“It worked for Charlie, but it doesn't work for so many other people,” he added.

Leigh went on to share a piece of advice for anyone trying to advocate for themselves, a family member or a child.

“Don't give up. Be persistent. Sometimes being the squeaky wheel is not a bad thing. And really trust your gut in advocating for those who need it,” she said.

National resources for families and those living with rare diseases:

Local resources in the Chicagoland area:

Reset host Sasha-Ann Simons spoke with Rush pediatric neurologist Dr. Elizabeth Berry-Kravis and Matt and Leigh Sims, the parents of 7-year-old Charlie Sims who was diagnosed with CLN1 disease in 2023.

You can listen to the full conversation above.

You can also read more about the Sims family’s story here.

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