‘A race against time’ | Health Beat

At just 5 weeks old, William “Alexander” Neal developed a small, nickel-sized bump on his jaw.

His parents, Hannah and William Neal, had no idea where it came from.

“We had to get him to the emergency room,” William said. “He got so cranky and the bump even pushed his tongue to the other side of his mouth.”

William and Hannah took Alexander for an hour to the emergency department of Spectrum Health Helen DeVos Children’s Hospital, where he underwent imaging and analysis.

The bump was a tumor.

Doctors at the children’s hospital sent Alexander to the pediatric intensive care unit for overnight observation and scheduled a biopsy on the tumor for the next day.

“The nurse on the floor was such a blessing to have that day,” Hannah said. “It was the worst night of my life and she got me through it.”

As the mass grew, it began to press on Alexander’s airways. Doctors put him on a ventilator.

His doctors thought it could be infantile fibrosarcoma, but they had to wait for confirmation of the biopsy before starting treatment.

Right medication, right time

David Hoogstra, MD, principal investigator at the Haworth Innovative Therapeutics Clinic at Helen DeVos Children’s Hospital, and Deanna Mitchell, MD, pediatric oncologist at Helen DeVos Children’s Hospital, knew exactly which drug would help Alexander.

Precision medicine, identifying the specific genetic mutation and identifying the right treatment, helped pave the way.

Julie Steinbrecher, a clinical research nurse at Helen DeVos Children’s Hospital, worked to get the ball rolling for rapid access to the drug, larotrectinib, which is highly effective in treating this type of cancer.

Another benefit: Larotrectinib is not only extremely effective against Alexander’s infantile fibrosarcoma, but has far fewer side effects than the traditional chemotherapy drugs used to treat this cancer before this drug was discovered.

It was a race against time, said Dr Hoogstra.

“We had confirmation of infantile fibrosarcoma within 48 hours,” said Dr. Hoogstra. “The hero of this story is Nurse Julie, because she got the ball rolling early on with this drug and asked to send it as soon as possible for such a critical situation.”

On the same day that doctors confirmed the cancer diagnosis, the drug arrived at the hospital.

Alexander would begin treatment immediately.

“It was one of those wonderful things,” William said.

“It almost felt like we were in a movie,” said Dr. Hoogstra. “Everything came together in such perfect timing.”

‘It’s all gone’

Incredibly, just 24 to 48 hours after starting treatment, the tumor on Alexander’s cheek had shrunk.

“It had shrunk so quickly, we decided to repeat a CT scan,” said Dr. Hoogstra.

The healthcare team had considered inserting a tracheostomy tube into Alexander’s neck to help him breathe on his own, expecting that it could take weeks to months for the tumor to shrink enough to allow him to breathe fully on his own.

But his sudden improvement changed all that.

“It had shrunk so dramatically that we were able to remove the breathing tube,” said Dr. Hoogstra.

So, just a few days after the start of treatment, Alexander was able to breathe on his own.

“Tumours, like sarcomas, just don’t shrink as quickly with standard treatment,” he said. “Before precision medicine, patients needed a port and would receive chemotherapy, which usually comes with side effects. And the time to see such a response can take months.”

Just months later, radiologists could find no trace of Alexander’s tumor.

“It’s completely gone after about four months of treatment,” said Dr. Hoogstra. “He’s in remission with no evidence of the tumor.”

“We’re so blessed,” Hannah said. “We were able to go home six days after he started the medication, and it’s shrunk so small now you can’t even see it.”

William, an ICU nurse who has also worked as a paramedic, described the experience with Alexander as extremely humbling.

“Seeing this happen to my own family…to my son…and not being able to do anything was really hard,” said William. “It was very difficult for me not to have answers or not to know myself. But we were so grateful for the amazing support and care at the hospital.”

Alexander now continues to take medicines, which Dr. Hoogstra thinks he should continue to take for another year.

“We had the right medication for the right cancer at the right time,” William said. “It was just amazing.”

‘Overlapping Blessings’

Alexander is back home with his family.

He’s growing well. He crawls. He is achieving all his developmental milestones.

“From birth until Alexander could no longer breathe, he became increasingly cranky,” Hannah said. “But he’s just such a happy and smiley baby since his tumor shrunk.”

A small scar on his face is the only visible sign of his battle with cancer.

“Dr. Hoogstra knew the medicine and was familiar with this form of cancer,” says Hannah. “We were so blessed to be at Helen DeVos Children’s Hospital and have access to these doctors who knew about rare cancers.”

“The number of overlapping blessings is just amazing,” William added.

Having a child diagnosed with cancer can be one of the hardest things for a family to go through, said Dr. Hoogstra, and he is constantly inspired by their resilience and courage.

And in the midst of it all, precision medicine plays a leading role in shaping positive outcomes.

It’s an exciting time for precision medicine, said James Fahner, MD, division chief of pediatric hematology and oncology at the Ethie Haworth Children’s Cancer Center at Helen DeVos Children’s Hospital.

“This is truly the new era of cancer therapy that we have all patiently waited for and prayed for,” said Dr. fahner. “It’s literally precision medicine, personalized medicine, at its best.”

Healthcare teams are using the most innovative molecular diagnostic techniques to pinpoint the exact mutation responsible for fueling the growth of the cancer cells, said Dr. fahner.

Armed with this knowledge, they are able to tackle that mutation with exquisite precision.

“These vulnerable children spare the risks and side effects of aggressive surgery, chemotherapy and radiation,” added Dr. Fahner to it. “Their story is indeed a marvel of modern medical science.”

dr. Hoogstra reiterated his enthusiasm for the future of personalized medicine.

“It’s a very exciting time to be a pediatric oncologist,” said Dr. Hoogstra. “In precision oncology, we use advanced molecular testing to understand these specific genetic changes that lead to each patient’s unique cancer.

“And our hope is to personalize individual treatment to provide the best care for each patient.”