The Spinal Muscular Atrophy Clinical Trial that Changed Koen’s Life

Koen’s parents, Noel and Keith, describe their son as a thrill-seeking nine-year-old with a contagious energy for life. He’s extremely intelligent, curious, athletic, explorative, and a loving brother and friend to many. These stellar qualities are just a few of the reasons their guiding principle for Koen has always been to focus on the “cans,” over the “cannots.” Their dedication to this mantra began when Koen was abruptly introduced to a world of physical challenges due to a spinal muscular atrophy (SMA) diagnosis at two years old.

Spinal muscular atrophy is an inherited genetic disorder affecting the part of the nervous system that controls the ability to move muscles voluntarily. Due to a lack of protein necessary for proper muscle function, those with SMA have inactive muscles causing them to get smaller over time (atrophy). An SMA diagnosis can have a wide range of presentations and severity, with different ages of onset, symptoms and rates of progression.

Noel says her pregnancy with Koen was “normal, full term, and didn’t show any signs of concern.” In the early months, he was meeting milestones as expected, but then suddenly lost the ability to stand around 14 months and began to show difficulty in crawling. From there a challenging journey began for Koen and his family, seeing multiple specialists, several rounds of testing, estimated diagnoses that turned out to be incorrect, and a growing fear and frustration from the Guests. “He was losing abilities fast,” she said.

After a long six months looking for answers, Koen was referred to a physical therapist who suggested the family look into SMA. “When I learned what it was, it started making sense, but I prayed that it wasn’t what Koen had,” said Noel.

Shortly after, EMG (electromyography) results indicated Koen should see a genetic counselor and get tested for SMA. The genetic test came back confirming Koen’s SMA Type 2 diagnosis and the Guests were immediately referred to Lurie Children’s to get expert care from Dr. Nancy Kuntz, Medical Director of the Mazza Foundation Neuromuscular Program. Their hunt for answers was over but a new, unexpected journey was just beginning, and it was an overwhelming realization.

“The moment I knew it could be SMA, it was a dark cloud over my head,” Noel said. “I knew that our life might be different from that point on, but I’d give him the best one I could.”

As vividly as Noel recalls the heartache she felt on “diagnosis day,” she also remembers the certainty she felt in knowing SMA wouldn’t define Koen as a person. She and Koen’s dad have made sure he’s grown up knowing and feeling that, too.

Trusting the Process

“At the time of Koen’s diagnosis there were very few options, and no treatments,” said Noel. “It was more about treating the symptoms. But there was a very small chance that he could qualify for a new, up-and-coming clinical trial that looked very hopeful, so we knew we had to push for that.”

As soon as Koen turned two (the minimum age of eligibility for the trial), Noel and Keith began working with Dr. Kuntz’ research team to gather the necessary data to submit for trial consideration. In fact, Noel says they spent his second birthday in the hospital to make sure they were taking action as quickly as possible.

After weeks of collecting various samples, the research team was able to tell Koen and his parents in person that he had officially been accepted into what was an extremely selective trial at the time. Knowing how small the odds were made the news even more incredible.

“It was like winning the lottery,” Noel said. “We were all crying; we couldn’t believe it.”

Koen went on to be admitted into a clinical trial known as “CHERISH,” testing the efficacy of a medication called Spinraza (not yet approved by the FDA at the time) that targeted SMA patients’ protein-producing backup gene, supporting it to produce better levels of SMN protein.

“It was a double-blinded, SHAM placebo-controlled trial in which two-thirds of the children in the study were given the active drug by repeated lumbar punctures under mild sedation and one-third of children were taken to the procedure room and had SHAM procedures under mild sedation (skin cleansing, a needle prick through numbed skin and a bandage applied) but no actual lumbar puncture,” said Dr. Kuntz.

She notes this required two study teams: the procedure team that did the lumbar punctures/SHAM procedures and the blinded treatment team. Neither the parents or the doctors and physical therapists in the treatment team knew if the children were in the active treatment or SHAM treatment arm of the study.

“At the very beginning, Koen got the placebo and we had to watch him regress for months. It was very hard as a parent” Noel said. “Going through the motions of the trial and not seeing results was tough.”

“The treatment was so unexpectedly beneficial that it soon became apparent which children were receiving treatment. The study’s interim data analysis showed marked benefit from the treatment, and it was deemed successful. At that point it was halted, and all children began receiving active treatment,” Dr. Kuntz said.

In 2016, at three years old, it was Koen’s turn to receive the medication.

Unforgettable “Miracle” Moments

“When he started treatments, it was a complete turnaround. We felt like we could breathe again because we started to see abilities he had lost come back,” recalled Noel. “He was able to sit up, crawl and even feed himself again after not being able to raise his hand to his mouth. He also regained weight and lung function back that he had lost prior. It was a complete miracle and truly saved his life.”

That moment years ago changed everything for the Guest family. Koen remained in the trial for seven years and continued to see muscular improvements that make life more manageable for him. He’s not without pain and, at times, confusion about his limitations, but the trial reminded Noel of the hope that can exist alongside SMA. She’s passionate about focusing on the bright side of what used to feel like very dark, heavy days. Koen recently completed the trial and will continue moving forward with treatments outside of it. The family is also exploring the possibility of entering another clinical trial for a new SMA medication. Today, two additional medications are FDA approved for disease modification in spinal muscular atrophy.

Noel is forever grateful to Dr. Kuntz and the entire Neuromuscular team that cares for Koen, including Dr. Vamshi Rao, Dr. Abigail Schwaede and Nurse Kristen Alianello, for their commitment to not only children’s health and SMA research, but genuine patient family connection and the way they deeply care.

Nurse Ben has been a special part of their Lurie Children’s story, Noel says. He was on Koen’s team from the beginning and even now, working on an entirely different unit, makes every effort to come see the Guests, surprise Koen and make his whole day.

“These doctors and nurses love our kids,” she said.

Keeping Up with Koen

As for Koen nowadays, he’s an active and adventure-seeking kid trying to collect as many fun experiences as he can. And his parents’ emphasis on the “cans” has stuck with him as he pursues everything he’s interested in, from adaptive water sports, skiing and climbing to coding, reading, foreign language and so much more.

To other families going through the difficulties of SMA, Noel’s advice is to not only help children find ways to continue living life but enjoy it – and to never give up.

“I will always thank Dr. Kuntz for her brilliance. She fights for us,” said Noel.

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