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Important New Duchenne Steroid Protocol: Download the "PJ Nicholoff Steroid Protocol"

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.

 

Continuing corticosteroids

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:

 

  1. The corticosteroid dose was purposefully not given or received (i.e., patient or parent decides to abruptly discontinue steroids)
  2. The corticosteroid dose was accidentally not given (i.e., vomiting >24 hours, hospitalization without continuation of medication, etc.)
  3. The corticosteroid dose is not adequate to provide the body with enough energy during a stressful event (i.e., surgery, severe illness, etc.)

 

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:

  • Defining HPA suppression in a patient using corticosteroids (which patients are likely to be suppressed and which are not)
  • Appropriate corticosteroid stress doses for minor, moderate, and major stressors
  • Recommendations for corticosteroid withdrawal
  • How to test the HPA axis for continued suppression
  • Symptoms of adrenal crisis
  • Tests that can help diagnose adrenal crisis
  • Corticosteroid conversions/equivalent doses

 

"PJ Nicholoff Steroid Protocol" (download)

Important Pearls to remember about steroids:

  • Do NOT discontinue corticosteroids abruptly or without the supervision of a medical provider (preferably, the prescribing medical provider)
  • If oral corticosteroids are missed on days when they are normally given for more than 24 hours, IV doses should be given
  • Higher doses (“stress doses”) of corticosteroids are needed during illness, surgery, or other stress. Anyone who takes steroids should know what dose to take on “sick days.”
  • If corticosteroids are purposefully discontinued, watch very carefully for signs of adrenal crisis during the corticosteroid taper, and for 1 year post-taper during times of serious injury or illness
  • GO TO THE EMERGENCY ROOM FOR ANY SIGNS OF ADRENAL CRISIS
  • Keep this protocol available to you, and your medical providers, in case of a medical emergency or admission
  • Alert your neuromuscular team in the event of a medical emergency or admission to help ensure that your/your child’s comprehensive care continues

 

Summary

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.

 

Stay Connected

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.

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Staff
Comment by Kathi Kinnett on September 11, 2017 at 3:28pm

Tia - a stress dose of steroids, if your son had been using daily steroids for more than 2 weeks, would absolutely have been advised.  However, this sounds like the sysmptoms of a fat embolism.when-parents-are-informed.  When patients have taken steroids for a prolonged period of time, the inside of the bones are replaced by fat (just like the skeletal muscles are replaced by fat and scar tissue).  When the bones break, tiny pieces of fat can get into the blood stream and go to the lungs, heart and/or brain.  From these symptoms, it is possible that a fat emboli went to the lungs, causing a lack of oxygen and the other symptoms.  SInce 80% of fat emboli go away on their own, if he is fine now, that is possibly what happened.  I hope that helps!  

Comment by Anitha on September 11, 2017 at 5:46am

My son was hospitalised twice for Low SPO2 after a fracture. He was absolutely fine on the morning of the fracture and the trauma and pain after the accident causing his fracture caused fever, blue lips and blue fingernails driving me to call the ambulance. His doctors still believe that the fracture and trauma had nothing to do with it. It was chest infection and pneumonia (a fallout of the fracture/trauma etc?) that caused dropping SpO2 levels. A child not using a bipap/Cpap ona daily basis and one that swam 400m just that morning can't magically have O2 insufficiency after a fall and fracture, can he? I've had no closure on this even though my boy was treated and released from the hospi. No one  thought of a stress dosage. Could alll these even have been caused by the `stress' and adrenal insufficiency? Any thoughts on this welcome. TIA


Staff
Comment by Kathi Kinnett on March 4, 2015 at 9:49am
Lynne- there are guidelines for people taking twice weekly/weekend doses of steroids included in the protocol. Because 10 days on/10 days off is not a dosing schedule that is frequently used in the US, those guidelines have not been included. I would recommend consulting your neuromuscular or endocrine provider for those guidelines.


David - I do realize that taking Deflazacort makes this a little trickier, however patients taking Deflazacort should have stress doses of predisone available. If 24 hours of Deflazacort are missed, the conversion table for prednisone is included and stress dosing guidelines should be followed.
Comment by David on March 3, 2015 at 9:15pm
The Deflazacort situation makes this yet harder. I have very limited supply options and sometimes they just POOF disappear in the mail. What then? Taper and pray is what. Damn FDA.
Comment by Lynne Nicholson on March 3, 2015 at 3:07am

What happens in the case of patients who are on weekend only regimes, or 10 day on/10 day off regimes?

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