According to a story from USA Today, 61 year old Jerry Devries is currently the oldest living patient with a very rare disease: Proteus syndrome. An unusual disease with only a few hundred documented cases and no known cure, the illness often leads to fatal complications. However, some researchers believe they may have developed a successful treatment for it. Jerry jumped on the chance to get involved.
About Proteus Syndrome
Proteus syndrome is a rare genetic disorder that is characterized by erratic tissue overgrowth. The disease can lead to severe disfigurement and often considerably shortens lifespan. It has been linked to genetic mutations affecting the AKT1 gene. Patients are initially born without any obvious signs of the disease, but Proteus syndrome progressively worsens over time. Many different body systems are subject to overgrowth, such as the bones, skin, blood vessels, muscles, and fatty tissues. Bone and skin tumors are common early in life. Patients are subject to a range of deformities and they are unique to each patient. There are no known treatments for Proteus syndrome; interventions are primarily symptomatic and may include surgery to prevent complications. It is possible that the majority of patients (with less severe forms of the disease) remain undiagnosed. To learn more about Proteus syndrome, click here.
Searching for a Treatment
Jerry had gone into surgery ten times by the time he was fourteen in order to correct deformities caused by the disease. At that time, his doctors did not understand what was causing them; he was officially diagnosed at age 40. He was involved in a trial for a drug called miransertib in 2015, but the drug didn’t really help him. However, it did show promise for some of the younger patients.
Regardless, Jerry has continued to be a part of research and thinks about future generations of Proteus syndrome patients who could stand to benefit. Therefore, he participates in trials of miransertib to this day. There are still concerns surrounding the drug, as some scientists fear that an excessive dose could inhibit normal growth in young patients. It is also unclear if miransertib could have an detrimental long-term side effects. However, with no therapies available, these are risks that Jerry and other trial participants are willing to take.