Brazilian businessman Fernando Goldzstein’s quest for his son’s brain cancer cure Sparked a Global Movement to reduce the diagnostic odyssey toward rare disease diagnoses.
In the rare disease realm, the term “diagnostic odyssey” refers to the long, difficult process required to confirm a patient’s illness. Families must then endure the even more excruciating path to find an effective treatment.
For Brazilian businessman Fernando Goldzstein, that odyssey began on Nov. 7, 2015.
“We received this news that our son was diagnosed with a brain tumor, and at that time, our lives froze. It’s very difficult to put in words what a father or a mother feel in circumstances like this.”
Nine-year-old Frederico Goldzstein was diagnosed with medulloblastoma, the most common malignant brain cancer in children, and his father was determined to save his life. His journey toward an effective treatment led to a collaboration with Children’s National Hospital in Washington, D.C., and other research institutions, intended to speed up the research and diagnostic process. It also yielded the launch of the Medulloblastoma Initiative, an international organization that seeks cures for these rare cancers by supporting scientific research.
On November 18, Goldzstein spoke with NPF Rare Disease Reporting fellows about the need for more collaboration in the race to save the lives of children like Frederico. Here are some highlights from his session:
For rare disease parents, giving up is not an option
Goldzstein said that while his son’s treatment began in their hometown of Sao Paolo, it soon became clear that he’d have to travel to find answers. That’s because at one point, the tumor relapsed, and doctors in Boston told him there was nothing else to do but wait for Frederico to die.
Goldsztein rejected that advice. He began the arduous process of educating himself about his son’s condition and reaching out to the best research institutions in the U.S. He was directed to Dr. Roger Packer, Director of the Brain Tumor Institute at Children’s National Hospital. He recommended that Frederico participate in clinical trials in New York and Washington.
But for parents of children with brain cancer, hope can bring deeper anxiety.
“There is no scientific proof that things are going to work or not, so you are in unchartered waters. It might be toxic, you don’t know, but you don’t have options. So you have to do something or the tumor is going to move ahead until the patient dies.”
Frederico participated in the trials, even though they were not designed for his type of cancer.
“There was no trial specific for Frederico’s disease. I was hoping for the best, but I had to be prepared for the worst.”
Children with brain cancer need better treatments
Goldzstein said that in this age of biotech innovation, treatments for children with brain cancer have not kept pace.
“Believe it or not, the treatment is very old. It’s from the ’80s. The treatment is very toxic and ineffective because 30 percent, more or less, of the kids relapse. And if they relapse, there’s no cure. And you might think that, ‘well, we have 70 percent of the kids cured.’ Yes, we do. However, the treatments are very, very toxic and the kids suffer from collateral effects that affect their quality of life, like they don’t grow, or they have cognitive problems of even secondary tumors.”
The Medulloblastoma Initiative pushes clinical trials
The Medulloblastoma Initiative, founded in 2021, has been able to get two clinical trials approved in two and a half years – significant speed in a field where that process can take a decade. Goldzstein said that philanthropy and collaboration between 12 U.S. research institutions, one in Canada and one in Germany made it possible.
“When we started this, we didn’t know exactly where we are going to be in two years, four years. I would never imagine that MBI would be a global movement.”
The initiative also has a third and fourth trial in the pipeline, and some children whose tumors relapsed are also being treated.
Not everyone is as fortunate, but Frederico defied the dire odds he’d been given.
“He is a very smart guy. He likes to travel very much. He likes to read, he loves school as well. Fred has been a warrior, and I decided that fighting the pediatric brain tumor will be the goal of my life from now.”
