Lately my Mama heart has been hurting. It has taken me a couple weeks to process it all and to gain my strength to discuss it. Jackson had his check up with his team at Nationwide Children’s Hospital. It was imperative that he have a cardiac MRI due to his age with Duchenne and to gain the best information as to how to treat him. After a very long day and many attempts we were not able to get the test completed and Jackson and I left in tears. Tears because just getting the IV in is typically a huge challenge. It went flawlessly and just went I took a breath, the staff was telling me that the test needed to be stopped due to Jackson’s inability to remain still and to come back in a year to try again. 

My heart just broke, my tears flew down, and my anger built up. My mind screamed  “I am tired of hearing maybe next year….what if he doesn’t have a year”. After much discussion, frustration, and tears we left. 

The next day went a little smoother with positive results from PT and pulmonary. Jackson’s doctor was pleased with his muscle strength and continuing ability to walk. More tests were done and it became blaringly apparent to me just how much Jackson is struggling right now to get around. How in the last few months he has changed and not for the better. It hurts my heart because this is the age that most children are transitioning to even more independence, and I am constantly reminded of all the things he cannot do or won’t be able to. That day the doctor told me that even though Jackson is stable, if he takes a fall and breaks a leg then he will not be able to recover and that he will lose his mobility and will be in a wheelchair. He told me to begin the process of getting him fitted for a power wheelchair. 

There is a moment when something is told to you….something that you have known will be told to you for YEARS, yet when you are face to face hearing the words being spoken to you….it is heart breaking. I am typically a very positive person, but when a transition of this nature is on the horizon, it is frightening. Frightening because lots of conversations need to be had, modifications need to begin, and emotions are running high with worry over how he and his brother will handle it all. 

It has been a challenging few weeks for our family with worry, concern, fear, and trepidation entering into this new chapter. I pray daily that Jackson will continue to have his strength and to keep walking, but I also understand the progression and nature of this DMD beast and unfortunately I do not think this is a battle we will win. For now, we will take it one day at a time and love each other tremendously through the process. 

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.

I am always in the field looking for more information to help me navigate the Duchenne trajectory and I try to be one step ahead of how it is affecting my son, so I recently watched a webinar from Dr. Rob Benjamin, a Pediatric Endocrinologist at Duke University who described what puberty is like for a non-Duchenne male vs what is expected for a Duchenne affected male.

He stated that the FIRST and most important sign of puberty starting is testicular enlargement. He gave this diagram below about the size of the testicles in comparison to age.

He stated that typically around age 14 Duchenne boys will be checked for levels of LH, FSH, and testosterone. Typically with Duchenne boys, the levels for these will be decreased (due to steroid use which leads to delayed puberty). A bone age scan will also be done, which is just an xray of the hand.

The question remains when to begin testosterone supplementation.

He stated that if at age 14 there are no signs of puberty, the next thing to do is to try to “jump-start” the brain by giving 3 months of low dose testosterone and then to reassess in 6 months.

After it is established that testosterone supplementation is needed, a gel or injection is most likely to be prescribed. The benefit is approx. 14 cm in growth as well as increasing levels of hormone.

In regards to the gel, typically a glove is used as to not have it be absorbed by the person applying it. If the shot is given, then that can produce acne and also lead to an pain or issues of infection due to injection.

If you would like to watch the webinar or learn more, below is the link to the video!

WATCH: Puberty and Duchenne – Webinar Recording with Dr. Robert Benjamin, Pediatric Endocrinologist