There are still so many rare cases of diseases that we don't know which may be due to genetic mutations or alterations. One such case involved an infant who was less than a year old diagnosed with juvenile myelomonocytic leukemia (JMML).
Standard treatments had no effect while his body continued to deteriorate. When doctors conducted a new genetic test called the UCSF500 to identify the cause of his rare cancer, they found an alteration which were more common in adult cancers than in infants.
With this insight, they had wanted to try one last ditch effort of using the same type of treatment for the adult cancer to see if his body would respond in the same way.
While Quincy recovered from his splenectomy surgery, Stieglitz approached his parents about trying an oral medication called sorafenib, an FLT3 inhibitor that has been effective in treating many adult liver and kidney cancer patients whose cancers are driven by changes in FLT3.
The drug had never been tested in clinical trials for infants, so even the proper dosage was unknown. In fact, an earlier study even recommended against sorafenib for JMML because it had found no FLT3 alterations in a group of patients with the disease.
Thankfully, the drug worked. Quincy's white blood cell count normalized and when he was healthy enough, they performed a bone marrow stem cell transplant on him. Now, he is in complete molecular remission.
(Image credit: Barbara Ries)