'Diagnosis': Woman's 9-year struggle with terrible muscle pain that left her immobile ends with doctor's newspaper column
Angel Parker, 23, from Las Vegas, Nevada experiences excruciating pain in the legs which often travels up and down her body. The pain and locks started when she was 14 years old and resulted in Parker having to give up many of her favorite activities. The pain leaves her close to immobile and with her age, the condition seems to have gotten worse.
For nine long years, Parker has searched for some answers or a diagnosis but has been turned away multiple times, being dismissed as a mystery case. A new seven-part Netflix series titled 'Diagnosis' which is based on a 'New York Times' column by Yale School of Medicine physician and author Dr. Lisa Sanders tries to help Parker in her quest for a diagnosis. The episode has been aptly titled 'Detective Work' as Dr. Lisa Sanders with some support from the public helps Parker find a diagnosis. As Dr. Sanders says, "Getting the right diagnosis is the most important thing you can do for a patient."
According to Parker, "Not knowing is the scariest thing in the world." Parker who aspires to be a full-time nurse was unable to do so for the longest time due to her condition. The pain episodes started to get a lot more frequent with age and reached a point where Parker had to be hospitalized every three months. Tests for various other disorders such as Lupus, MS (Multiple Sclerosis) all came back as negative and no doctor in the USA was able to understand what was going on. Dr. Sanders shared Parker's case in The New York Times, in the hope that with more people came a better chance for a diagnosis.
This was Parker's last hope, given how discouraged she was by other doctors who did not want to engage with a case such as hers. Many people wrote in with suggestions and experiences and shed light on the fact that the condition could very well be under metabolic myopathies which is a disease of the muscle. Parker who lives with her boyfriend Mac Lockett went through the suggestions, did some research and came to the conclusion that Parker's condition aligned with either the McArdles disease or CPT2. Over 2 weeks, they received 1,600 responses.
Once Dr. Sanders had shared Parker's case, an Italian medical student Marta Busso spoke about their research facility and invited Parker to come and do some tests. Since Parker was in serious medical debt, the facility was a blessing in disguise and said they would do the tests for free. The couple flew out to Turin in Italy and went to the Regina Margherita Hospital where they met Dr. Marco Spada who is the director of pediatrics. Via one single drop of blood, the hospital was able to eliminate many metabolic diseases, leaving Parker feeling helpless.
However, they told her that they would conduct a genetic molecular test, the results of which would only be available in a couple of months. Parker agreed to do the test and had to wait for the results. A few months later, she was diagnosed with CPT2 (Carnitine palmitoyltransferase II) disease.
After the successful diagnosis, Parker was able to manage her illness by controlling her diet and taking all other necessary precautions. She and her boyfriend could not express their gratitude enough. Parker is now a successful nurse working full time and is reaching for all her goals fearlessly.