STEROID INFORMATION EVERY DMD PARENT NEEDS TO KNOW!

I recently was able to view PJ’s Protocol which is a series of video’s put on from PJ Nicholoff’s family. It is made for medical personnel, but is SO necessary for any DMD parent.

The series is 4 parts long and is SO educational! My son Jackson has been diagnosed with Duchenne Muscular Dystrophy for 6 years and I learned stuff that no one has ever told me before!

Part 1 – Dr. Jerry Mendel and Dr. Gary Noritz of Nationwide Children’s Hospital in Columbus, OH

The story begins with the introduction of PJ Nicholoff, who was a 31 year old man who suffered from DMD. He had a degree in web engineering and loved sports and playing poker. He was on vacation in Florida and fell, which led to a fracture. He ended up having surgery to fix the fracture and after that he developed low blood pressure, tachycardia (rapid heart rate), and trouble breathing. PJ later passed away.

One of the factors that contributed to his death is that he did not receive the adequate amount of stress dosing of steroids. Stress dosing is done when a DMD patient has:

• a fever of 101 F

• a broken bone

• a large bleed

• vomiting

• passes out/unresponsive

• anesthesia

• or surgery

This video discusses how DMD is the most severe inherited muscle disease of childhood. The child’s Creatinine Kinase (CK) level is typically >2,000 (normal is <200).

The clinical presentation that medical personnel will typically see is when they are 3-5 years old, which is when a diagnosis typically occurs.

Then leads to a decrease in ambulation from the ages of 10-12 years old. Walking can be extended 1-2 years with the use of steroids. Deflazacort was the steroid previously used, but now Emflaza has come onto the market (which is US approved).

Boys typically will have heart failure or heart disease in their 20’s.

Major features of DMD:

• Skeletal muscle weakness > which leads to a loss of ambulation
• Respiratory muscle weakness > which leads to respiratory failure
• Progressive Cardiomyopathy > which leads to cardiac insufficiency and heart failure

IF LEFT UNTREATED:

DMD will cause the child to be in a wheelchair by the age of 13, scoliosis will develop, and the median life expectancy is 19 years old.

IF AGGRESSIVELY TREATED:

Ambulation can be preserved for a few more years, scoliosis is less common, and a median life expectancy is 30 years old.

TREATMENT OPTIONS FOR DMD:

• Corticosteroids
• Assisted Ventilation
• Heart failure therapy
• Oral nutrition/feeding tube
• Constipation therapy
• Scoliosis intervention

The 2nd part- THE TRANSITION FROM PEDIATRIC TO ADULT CARE

This video discusses the transition from pediatric to adult care.

It also discusses how cognitive disability may be present like autism, learning disorders,etc.

The 3rd video- ACUTE AND EMERGENT MANAGEMENT OF DMD

This video discusses Acute + Emergent Issues

The first step is to always trust the caregivers!

Then to do evaluation of the following:d

DYSPNEA:

• Ventilation- worsening muscle strength + malfunctioning of ventilator
• Oxygenation- Parenchymal disease (lung issues like pneumonia), Anemia, V/Q mismatch
• Worsened Cardiac Function- cardiomyopathy, fluid overload, arrhythmia, anxiety

When having dyspnea, they might look well, BUT have impending respiratory failure with difficulty recruiting accessory muscles and facial muscle weakness.

DO NOT USE OXYGEN EMPIRICALLY without FIRST checking the degree of ventilatory dysfunction because it can impair respiration further! If they have a bi-pap, you can put that on + it may help.

IMPORTANT INFORMATION OF INTUBATION

ANY depolarizing muscle relaxants (like succinylcholine) should NOT BE USED due to risk of rhabdomyolysis + hyperkalemia (potassium). INHALATION DRUGS ARE ASSOCIATED WITH MALIGNANT HYPERTHERMIA.

These drugs are safe to use: Propofol, Etomidate, Vecuronium, + Cisatracurium. Opioids (in low doses) can safely be used.

If they have a respiratory illness- then mucus clearing techniques should be used.

EVALUATING FOR HEART FAILURE:

Symptoms could be vague + nonspecific like fatigue, weight loss, vomiting. Do an EKG and labs (BNP), imaging (Echo).

TREATMENT FOR HEART FAILURE:

• Preload reduction with diuresis
• Afterload reduction with ACE inhibitor, nitrates, or other vasodilators
• Dysrhythmia treatment

ABDOMINAL PAIN:

• Could be GERD
• Constipation
• Kidney Stones
• Heart failure

BACK PAIN:

• Kidney Stones
• Compression fracture
• Seating discomfort

LIMB PAIN/ SWELLING:

• Fracture
• DVT (deep vein thrombosis)

The 4th video- STEROID MANAGEMENT

This video focuses on steroid management. Typically our bodies produce 8-10 mg of hydrocortisone /day. If there is a mild illness, then the adrenal gland will make approx. 50mg/day for one day. If there is a severe illness, then the adrenals make approx. 75-100 mg/for 5 days.

RISK FACTORS FOR ADRENAL CRISIS:

• Dehydration
• Infection
• Injury to adrenal or pituitary gland
• Not taking their steroids
• Surgery
• Trauma

SYMPTOMS OF ADRENAL CRISIS:

• Abdominal pain
• Confusion
• Dehydration
• Fatigue
• Flank pain
• High fever
• Loss of appetite
• Low BP
• Nausea
• Weakness
• Rapid heart rate
• Rapid respiration rate
• Vomiting

STRESS DOSING STEROIDS:

Minor stress- (local anesthesia <1 hour)- inguinal hernias, single tooth extraction, colonoscopy, mild fever, mild nausea/vomiting/diarrhea.

Moderate stress- multiple teeth extraction, fracture, pneumonia. Give 50 mg (25 mg every 8 hours).

Major stress- Septic shock, multiple trauma, major surgery, pancreatitis, orthopedic surgery. Give 100 mg (50 mg IV every 8 hours, taper to baseline over 1-2 day).

The patient should be assumed to be steroid deficient + need replacement or stress dosing.