Sep 23, 2022 · 2 min read · 8 photos

How a Parent of a Child With a Rare Disease Built a Team To Find Answers

Collaboration between interdisciplinary researchers could serve as a model for the rare disease community.

Share

The Polyamigos is an unusual club: a collection of scientists who seem, at first glance, to have little in common. Some study human genetics. Others are experts in lab animals, such as flies or mice, or the biochemistry of molecules.

Michael Raymond, a father with no background in science, has united these researchers for a common cause. They are investigating, from multiple angles, one of the rarest diseases on the planet — a disease that threatened Michael’s son’s life. Known as Snyder-Robinson Syndrome, this condition is characterized by intellectual disability, muscle and bone abnormalities, developmental delays and other medical problems. It is thought to affect only males (although emerging evidence could challenge that view).

In the illustrated story below, follow the journey of this father and learn how he helped to change the course of science.

An illustration of a father in a suit kneeling down next to his son. Behind them is text that reads “Snyder-Robinson Syndrome” and labels the son as Connor Raymond and the father as Michael Raymond. Behind them are also speech bubbles that say “seizures, speech issues, brittle bones.”

I am not a scientist or a doctor. But when my son developed a rare disease, my family and I had to do something. So we started building a team.

Illustrations of doctors Charles Schwartz and Roger Stevenson with images of molecules and gears.

At first, the team was just our family and the doctors who identified the broken gene causing his condition. This gene makes polyamine molecules.

Illustrations of scientists Grace Zhai and Chong Li with an image of a fly.

We met parents of children with the condition. We started a foundation. We teamed up with fly scientists, who found that an imbalance in polyamines can produce neural toxins.

An illustration of a cell phone in a hand, with diagrams of molecules.

I emailed everyone going to a research conference devoted to polyamines. One researcher wrote back and brought in other biochemists who added their expertise to our investigations.

 Illustrations of Edison T. Liu, scientists Aamir Zuberi and Cat Lutz, and a man and cab driver talking in a car. A drawing of a lab is on the horizon.

On a family vacation, a cab driver told me about one of his previous passengers: the director of an organization that breeds lab mice. His group made a mouse model of the disease for us.

An illustration of a team of the Polyamigos team.

A pull quote on a yellow and blue background that read, “Snyder-Robinson Syndrome (SRS) is an ultra-rare disorder. At the time of this writing, we are aware of fewer than 100 cases worldwide. Consequently, the existing medical literature provides a limited description of the disorder. We hope the information of this page will enable providers to consider some helpful work-ups and evaluations that might not otherwise have been apparent, based on a review of SRS patient records in our Natural History Study.” The caption reads, “We’ve summarized our research so far in a medical management guide.”

We’ve summarized our research so far in a medical management guide.

Illustrations of a diverse group of male individuals.

Our team and our knowledge are growing. We have a lot of work to do: to help my son and other children everywhere with this rare disease.

To learn more about ongoing research into this disease and find resources for families whose children are affected, visit the Snyder-Robinson Foundation or explore their recent conference. CZI supports the Snyder-Robinson Foundation as part of the Rare As One project and our work in patient-driven research.

For more illustrative stories about scientists working together to advance the study of disease and accelerate progress toward cures, check out our Stories of Collaborative Science series.

Share
RELATED ARTICLES
SCIENCE
Increasing Diversity in Genomics
SCIENCE
What Causes Inflammation and How Does It Affect Our Health?