Failed to Communicate
Steven Coffee Jr. was born prematurely on September 8, 2012 to two excited new parents living in Richmond, Virginia. Initially, Steven had low glucose levels, high bilirubin levels, and threw up milk. Although the nervous, first-time parents were concerned, they were told it was not too alarming because Steven was born at 37 weeks and six days. What Lt. Col. Steven Coffee didn’t know was that his son was showing telltale signs that something was seriously wrong.
Communication Issues & a Misdiagnosis
Less than a month after Steven’s birth, a physician had reviewed the newborn screening and recognized the signs of a rare disease that was characterized by high bilirubin levels. She called the Coffees to inform them of Steven’s galactosemia diagnosis. However, the physician had a heavy Ghanaian accent and the Coffees had her on speaker phone, both creating communication barriers.
“She said, ‘your son as galactosemia’,” Col. Coffee recalls thinking, “I don’t even know how to spell galactosemia let alone have heard about it”.
The physician told them to go to another hospital and tell the doctors Steven has galactosemia. But, the physician failed to relay the risks and the severity of galactosemia, leaving the new parents confused about the condition and the impact of this diagnosis. This miscommunicated diagnosis left them searching on Google for information on their son’s condition, and ultimately delayed the correct treatment for Steven’s diagnosis.
Fast-forward to Thanksgiving night. Steven developed a swollen mass on his leg and upper thigh, which sent the Coffees to the emergency room. There, the mass was misdiagnosed as swollen lymph nodes, even though the condition continued to worsen, and the mass began to spread across Steven’s lower half. Unbeknownst to the Coffees or their physicians, the mass was the result of Steven’s distended stomach; had the condition been properly diagnosed then, perhaps Steven would have suffered less.
Six days later, the Coffees were transported via helicopter to a larger hospital and sent to the Pediatric Intensive Care Unit (PICU). This was the first time they heard the severity of the diagnosis for their child. “The resident said, ‘this is Steven our two-month old from an outside hospital who has fulminant liver failure, secondary to galactosemia.’ My wife and I looked at each other and said what do you mean?” Col. Coffee recalls.
Galactosemia is a rare condition that makes young Steven unable to break down galactose in milk due to problems in his liver. Steven lived for two months, without treatment for his condition, before going into liver failure.
After the excitement that came with having his first child, Col. Coffee became overwhelmed with emotions as they tried to figure out what was next for their child. During this time Col. Coffee describes his emotions as being “all over the map—it was quite the rollercoaster. I compartmentalized the anxiety, the pain, and the uneasiness and focused on the task to be done.”
“Part of me was terrified, but the other part of me said ‘You’ve got to be strong for your wife because she’s scared’,” Col. Coffee remembers. He describes feeling helpless as he realized that he couldn’t do anything to protect his son, who was intubated in the ICU.
Steven had a liver transplant on December 5 from a seven-year-old donor from South Carolina. Col. Coffee says, “He is a special little guy, and it’s not just because he is my son, but because he was the youngest person to have a liver transplant in 2012.”
Life After the Transplant
Since Steven’s transplant, the Coffees have found a conference that occurs every two years specifically for galactosemic families. Col. Coffee has connected with other families he can relate to. “It is a support network that we’ve created ourselves because galactosemia is a rare condition that we had never heard of,” Col. Coffee says.
“As a member of military, we oftentimes are told ‘when you see something say something,’ but I didn’t know I could say something,” he explains. “I didn’t know I had a voice.” His core beliefs regarding misdiagnosis issues is that people need to slow down in order to receive the correct diagnosis, and that patients need to know that they can speak up if they don’t understand something or have additional concerns.
He wishes he had asked the doctor what it meant when the baby is jaundiced or what it meant when they said he has galactosemia. “What if we’d done more testing? What if the doctors knew more about galactosemia? What if I had requested to have a full genetic sequence? Would they have caught his diagnosis of galactosemia earlier?” Col. Coffee asks himself.
Since the transplant and his experience with delayed diagnosis, he and his wife have educated themselves on galactosemia and he has become an advocate for quality and safety in patient care. Col. Coffee is now a Patient Advocate and a member of the Medstar Georgetown Patient Advisory Council for Quality and Safety. He hopes that patients will learn to relay their symptoms in complete detail, and that they will ask questions to their physicians to become partners in their care.
Steven has gone through occupation, speech, and physical therapy to help him overcome the obstacles associated with his condition. He has made great strides in his recovery from the transplant, and he will be attending first grade in the fall of 2018.
Col. Steven Coffee is a Patient Partner working with SIDM’s Patients Improving Research in Diagnosis project, funded by the Patient-Centered Outcomes Research Institute (PCORI). To learn more about the project, contact Sue Sheridan at firstname.lastname@example.org.
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