Family chooses St. Jude because of SAMD9/SAMD9L researcher

Thomas Ray, 4, dashes from blocks to cars to a play kitchen as he waits for an appointment. To him, St. Jude is more like a giant playroom than a hospital. 

“To say Thomas is in constant motion is the understatement of the year,” says Thomas’ dad, Dustin. 

Dustin and his wife, Kellie, love the child-focused care at St. Jude. But they wanted Thomas treated there for another reason – Marcin Wlodarski, MD, PhD. He is one of the world’s top experts on SAMD9/SAMD9L syndrome, the rare disease Thomas has. Wlodarski is part of the team that discovered the gene mutations that cause this disease. He also created a patient registry that helps to better understand the disease and develop new treatments.

“We wanted Thomas to go to St. Jude because that is where the research is being done,” Kellie says.

In patients with SAMD9/SAMD9L syndrome, the bone marrow cannot make enough blood stem cells. All blood cells start out as blood stem cells. Sometimes, the condition gets better on its own. Other times, it can be quite serious and can develop into leukemia. 

Since SAMD9/SAMD9L syndrome is hard to predict, doctors watched Thomas closely. He had many blood and bone marrow tests. When he was almost 2 years old, tests showed his blood cell counts and immune cells were low. He received blood transfusions and a medicine called IVIG to improve his immune system. He sometimes had treatment at the nearby St. Jude affiliate in Huntsville, Alabama. This went on for several months. Thomas showed no signs of improvement. Because the disorder could turn into leukemia, Thomas had a bone marrow transplant at St. Jude. 

Even though this treatment caused severe nausea and vomiting, Thomas always wanted to play. He played with toys in bed while watching Thomas the Tank Engine on TV. 

Thomas is healthy now. He still loves going to St. Jude for checkups.  

“We have a magnet with a photo of St. Jude on our refrigerator. When he sees it, Thomas points at it and says, ‘Go!’ because he wants to go to St. Jude,” Kellie says. “St. Jude takes such amazing care of you. They provide care not just for child, but for the whole family.”