When Halloween came around this year we were all set with our costumes. Jackson was dressing up as Perry the Platypus and yes it was a homemade costume that my dear friend made for him! It was a replica of his favorite stuffed animal, a beanie boo named Perry.

Little brother was going as an inflatable dinosaur. I was going to be a skeleton, but that day during clinicals, I had one of the worst days of the year and came home in tears. I most definitely didn’t want to go out in the terrible weather we were having that day, which was high winds and rain, to go trick or treating. I sat the boys down and we discussed our options. They quickly both agreed that they didn’t want to deal with the weather either and would like to pass out candy.

Once the time came, they happily handed out candy and then about 3 minutes in…little brother realized that he wanted to just run to a couple nearby houses to trick or treat. He did that and Jackson and I continued to pass out candy. About 4 minutes after that Jackson saw kids running around outside and noticed that the rain had stopped. He asked if he could then go trick or treating.

So I forfeited my costume for warm clothes, Jackson and his little brother forfeited their costumes because 1) an inflatable costume + high winds= TROUBLE. and 2) a homemade platypus costume once wet will be like dragging heavy material around. So we got out our old costumes and Jackson grabbed my old dinosaur costume and his little brother grabbed Jackson’s old corgi costume. We headed out in the cold and wind and within 5 minutes it began to rain again. I had jackson’s new mobility scooter with me and let him know that whenever he needed it, it would be available.

We walked around the neighborhood for about 20 minutes and Jackson began getting very fatigued. He took a rest in the stroller and I pushed him around for the rest of the night. What happened after that became quite interesting to me. As I pushed him up to the various houses people made random comments like “can he get out of there” (they didn’t want to have to walk off their porch). Another person said, “ahhhh…i don’t want to walk over there because my socks will get wet”. This happened over and over again. To the point that little brother began getting the candy for his brother. Then Jackson just gave up. He said “forget it, i want to go home”.

We began heading home and we were cold, wet, and tired. As we rounded the last road there were a few houses with their lights on. Little brother ran to one and I kept pushing Jackson. Then all of a sudden I looked up and saw an older gentleman walking not only out of his house and onto the porch, but walked all the way down his driveway. He came right up to the boys and told them to pick as much candy as they wanted. Jackson took one. He said to take more, but Jackson insisted on just one. I thanked him and we made the trek home.

It was such a simple, yet profound thing that this gentleman did. He was observant and although he didn’t know the situation, he could tell that something was different. And here’s the biggest part…..HE DID SOMETHING ABOUT IT.

The simple act of making the situation easier and not drawing attention to it. Just acting and making such an impact in our life.

This man probably had no idea how it impacted us since Halloween. I have thought about it constantly and how when the holidays rolled around I wanted to do something as a ‘Thank You’. So I recently got some chocolate chip cookies together and made a little gift basket up and wrote down the story in a card to deliver. I went over to the house and knocked on the door. A man answered and I wasn’t sure if it was the same person or not, so I introduced myself and asked if it was him that was there on that Halloween night. He said that it was his Father who had been there.

I told him that his Father is a good man and told him the story of what happened and how that simple act of kindness made such a significant impact on our lives. How grateful we were. He remarked “that’s my Dad”. Of course when I began talking about Jackson and his struggles with Duchenne Muscular Dystrophy I began crying. I then finished what I was saying, handed him the cookies and card…and by this point his 2 daughters had gathered to hear what was going on.

I am so very thankful that kindness can be found in negative situations. I am grateful to this man who went out of his way when he didn’t have to. I am also glad that i took the time to acknowledge this individual and hope that others can become aware and less ignorant when they see someone who may be different and instead of judging or turning away, they lean into the situation and try to help in any way possible.

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.