Phillip James “PJ” Nicholoff was a vibrant, 31-year-old man living with Duchenne muscular dystrophy. He had an encyclopedic love of all college and professional sports; he and his family traveled all over the country to catch games. He had a degree in web design and worked his entire adult life. He enjoyed swimming, dating, and driving his own car – much like any other 31-year-old young man.
PJ had been treated with daily corticosteroids since the age of 6. He endured several pathologic fractures, likely a result of his steroid treatment and his non-ambulatory status. In November 2013, on his last trip to Florida, he fractured his humerus and hip, and was transported by plane to a hospital closer to his northern home. PJ had orthopedic surgery to manage both of these fractures. After these repairs, he developed respiratory distress, shock, and died. Review of the medical record suggested that he had not received consistent corticosteroid replacement during his hospitalization.
Annually, patients with Duchenne muscular dystrophy are admitted to emergency departments and intensive care units where medical expertise thrives, but where expertise in rare diseases, such as Duchenne, may not. Sadly, this lack of expertise, and a combination of many factors, may have contributed to PJ’s death.
The regular use of corticosteroids is not unique to patients living with Duchenne. It is not, however, extremely common in the medical arena. As pressing medical emergencies emerge, often issues of daily medical care (including medications) are pushed from the foreground. An additional issue is that many patients with Duchenne use Deflazacort, a corticosteroid that is not yet licensed in the United States and which may be unfamiliar to doctors.
Families living with Duchenne are aware that maintaining regular doses of corticosteroids is important, but “why” and “how” can be confusing. PPMD, Dr. Phillip Zeitler (Children’s Hospital Colorado), Dr. Sasigarn Bowden (Nationwide Children’s Hospital) Anne Connolly (St. Louis Children’s Hospital), and the team at St. Vincent Indianapolis Hospital, with input from Dr. Doug Biggar (Holland Bloorview Kids Rehab), Dr. Garey Noritz (Nationwide Children’s Hospital), and Dr. Jerry Mendell (Nationwide Children’s Hospital), have worked together to develop a tool that hopes to simplify these issues for patients, families, and providers alike.
What is cortisol and why is it necessary?
When a body is stressed, the hypothalamus (a gland located in the brain) releases a compound (corticotrophin releasing factor, or CRF) that travels to the pituitary gland (also located in the brain). The release of CRF causes the pituitary gland to release adrenocorticotrophic hormone (ACTH). The release of ACTH triggers the body to release hormones that are needed to deal with stress to the body – cortisol is one of those necessary stress hormones. Cortisol is manufactured and released by the adrenal glands (located on each of the kidneys). The increased level of cortisol is necessary to increase the body’s energy, giving it enough energy to deal with the presented stress. This whole process is called the HPA, or hypothalamus-pituitary-adrenal axis.
Hypothalamus-pituitary-adrenal (HPA) Axis
Why does it matter if a dose of corticosteroids is missed?
When a person takes regular doses of corticosteroids, the adrenal glands become inactive - because the body realizes the cortisol is coming from elsewhere (from oral corticosteroids), the adrenal glands do not need to release cortisol, so they temporarily stop doing so. This disables the HPA axis and the body’s ability to deal with stress. For this reason, it is important that people taking corticosteroid not miss their doses for more than 24 hours. They may also need a higher dose, or a “stress dose,” of corticosteroids with extreme stress, such as severe illness, surgery, or trauma.
What happens if the body doesn’t have enough cortisol?
There are really only three ways a person who takes corticosteroids regularly would not have an appropriate level of cortisol in their body:
Not having appropriate levels of cortisol in the body, daily or during episodes of “stress,” can cause the body to experience symptoms of acute adrenal insufficiency, or adrenal crisis, which can be life-threatening.
Important steroid protocol topics for parents and providers
After much discussion amongst the experts listed above, important topics for patients, parents, and providers were identified and expanded up on. These topics, which are included in the "PJ Nicholoff Steroid Protocol" (download) in great detail, are:
Important Pearls to remember about steroids:
In PJ’s eulogy, his father said “No matter what happened, PJ always thought and turned things positive, ranging from broken bones to bad hands in poker. PJ was not one to give up, nor one to fold a hand in poker or blackjack. It was all in for this man!!!” Despite this tragic occurrence, the “PJ Nicholoff Steroid Protocol” (download) is a positive result that will impact the lives of people living with Duchenne and using corticosteroids around the world. We thank PJ and his family for encouraging the development of this resource.
Are you registered on DuchenneConnect? If so, is your steroid information updated? DuchenneConnect is working with researchers and sponsors interested in using the corticosteroid data we collect. They want to speed up trials and answer important questions for individuals with Duchenne and Becker muscular dystrophy. Make sure you or your child’s information is in our system.
Please help advance research by logging into your account today and completing the new Corticosteroid module. You’ll find a resource page listing new and existing steroid materials at the end of the new steroid module.
If you have any questions, please email coordinator@DuchenneConnect.org or call 201-937-1408.