The show’s first episode focuses on Angel Parker, a 23-year-old nursing student from Las Vegas, NV who’s been in near-constant excruciating pain since she was 14. “It begins in my legs and shoots up my back, all the way up to my jaw and my cheeks,” Parker explains.
After nine years without a diagnosis, Parker is facing the difficult reality that this might be her life, forever. “I want to live, not let this ruin my life,” she says.
Enter Lisa Sanders, the diagnostic whiz behind the New York Times Magazine column “Diagnosis.” In April 2018, Sanders published a column with Parker’s symptoms and invites readers to submit their advice and ideas. Ultimately, the column's 1,600 responses help lead to a happy ending for Parker. Here’s what happened.
What are Parker’s symptoms?
Parker has intense muscle pain triggered by exercise. She also has dark urine, a sign of of muscle breakdown.
Early on, Parker tested negative for lupus, strep, and thyroid disease, all possible explanations for muscle breakdown. For nine years, doctors have been unable to offer a diagnosis, leaving her family suspicious of Sanders’ offer for help.
“Nine years, we’ve been going through this shit,” Angel’s dad says in Diagnosis, clearly exacerbated from the process. “Why don’t they say they don’t know what the hell they’re doing? You don’t know how frustrating this is, to see you like this.”
After all these dead ends, Parker has racked up medical debt. She’s being sued by doctors who were unable to provide relief. When a team in Italy offers help, Parker is shocked to learn that their health care is – gasp! — free.
So, what’s Parker’s diagnosis?
While whittling through the 1,600 reader responses, one diagnosis jumped out to Parker: CPT2, short for carnitine palmitoyltransferase deficiency II.
CPT2 is a “condition that prevents the body from using certain fats for energy,” according to Genetics Home Reference. The very rare condition is passed down genetically.
After waiting months to hear back about a genetic test conducted in Turin, Parker finally gets her answer. Parker was right: She has CPT2. “It’s a simple disease to manage,” the doctor tells her. If Parker increases the amount of sugar, and decreases the amount of fatty acids she eats, then her pain is gone. Just like that!
Where is Parker now?
Parker and her boyfriend, Mac, were so happy when she got her diagnosis — and they still are. Parker has been able to manage her disease through diet and lifestyle changes.
Parker graduated from nursing school and now works as a nurse.
Finally, Parker learns that she can have children, but they’re definitely going to get Mac tested for CPT2 — just in case.
“It’s super rare for two people to be carriers and have children together, so good job, guys,” Parker tells her parents. “Good job on finding each other in the world.”