The Dark Cloud of Duchenne

I once read that life isn’t about waiting for the storm to pass but learning how to dance in the rain.

The diagnosis of Duchenne muscular dystrophy felt like a sharp sword that stabbed and shattered my world.

After that moment, a dark cloud hovered above my head, and would never leave. Every time I looked up, there it was, reminding me of the perils that lay before me.  It was a frightening time, to think that my perfect, sweet child of six who I loved with all my heart, was going to progressively get weaker, until he could no longer walk or use his arms. He would lose his ability to eat or breathe on his own, and on top of all that, his life expectancy was put at age 20, if he was lucky to live that long. I felt an anguish that only a mother could understand, and my world stopped.

How was I to navigate through this mess? There was no cure for my son, and no treatments. What was this disease? What did it all mean?  What about my other children? The dark cloud was all around me. That was 11 years ago.

To say there have been many challenges over the years is clearly an understatement. My earlier pursuits of undergraduate and graduate degrees were nothing compared to the task at hand. Not only did my husband and I have to learn about the complexities of Duchenne, but we also had to become experts in a short amount of time in order to fully understand and comprehend this disease if we were to save our son.

As we embarked upon this endeavor we would learn the language of doctors and specialists, and enter a world of genetics: DNA, RNA, dystrophin, utrophin. We conversed with scientists and discussed with neurologists, orthopedists, cardiologists, and pulmonologists, and even pharmaceutical companies. The list went on and on.

We had to educate family, friends, teachers, schools, physical therapists, and attend conferences. We became lobbyists, organized fundraisers, and served on charities. Eventually we would have to research wheelchairs and adaptive technologies, and later assistive devices such as coughing and breathing machines.

Over the years difficult decisions were made regarding drug treatments. The side effects of some of the drugs, such as cortico-steroids, were dramatic. Another, gentamycin, also generated toxic side effects. But there was little else.

Further along we learnt about a small molecule drug, and participated in a very promising drug trial. My son was poked and biopsied, and became a guinea pig for the generations to come after him. It turned out that for 18 months he was on a dose that was actually ineffective. The trial stopped temporarily.

Throughout, the dark cloud remained. My son was getting weaker, and despite all we were doing we had little choice but slowly to surrender to the relentless nature of Duchenne, which was steadily stealing his life away.

Although there have been huge advances with the unveiling of new drug trials, and many scientists coming forward with renewed optimism and hope, today there is still no cure for my son, and no treatments. Despite this new tide of optimism, the obscured reality is that our older boys are loosing their lives to Duchenne.

The dark cloud became darkest about a year ago, when my son, then 17, had a routine visit to his orthopedist. After an examination of his back and an x-ray, the doctor informed   us that his scoliosis had suddenly worsened compared to a few months ago. Because of the curve in his spine, his chest was being rotated and as a result was compressing the space available for the lungs and heart. 

The doctor told us matter-of-factly that my son would need to have two rods inserted along his spine, routinely called spinal-rod surgery.

·      After making the incision, the muscles are then stripped up off the spine to allow the surgeon access to the bony elements in the spine.

·      The spine is then instrumented (screws are inserted) and the rods are used to reduce the amount of the curvature.

He said that during the six hour-long surgery he would require a blood transfusion, since there would be much blood loss due to the incision along the back as well as in the bones. But he reminded us that surgery would give him a chance of living longer. He said we needed to act quickly due to my son’s decreasing lung function, which is detrimental during surgery and recovery. I could swear the blood left my veins.  I felt so desolate.

After a visit to the pulmonologist, the go ahead was given. My son’s lung capacity was at 40 percent. Although it is preferable to do this type of surgery when they are younger and stronger, the doctor said if we act swiftly the surgery is still safe. He lectured not to wait too long, as lung capacity will get too low, and then the surgery will be more risky.  He added that he couldn’t guarantee anything.

The doctor’s words echoed loudly through my mind, my thoughts in a spiral. The idea of spinal-rod surgery induced a feeling of desperation and fear, the fear of my son possibly dying through this ordeal, and possibly dying if we didn’t go through with it. And the recovery process, what about that? I didn’t want to lose him. There was no guarantee he would make it. We were at a crossroad, an impossible predicament.

The bottom line was the horrific realization that we may lose our son sooner than we thought. We were damned if we did and damned if we didn’t. How could I make such a decision?

For three months, my mind and thoughts were in turmoil and the dark cloud followed me into my dreams. I was supposed to make a decision. How? I had so much advice designed to help me through my dilemma: “Pray”, they said,   “Through God you will know”,  “It is God’s will”,  “I will support you”,  “It will be fine”,  “The right answer will come to you”,  “Reflect”,  “I know a good priest”,  “A swami”, “A monk”, “You must do it”, “You must not do it”.

I searched through the chambers of my mind for answers and solutions. It was the most difficult time for me, the most difficult so far on this Duchenne journey. I was now facing head on the ugly reality of this cruel disease.

The only answer that came was nothing. Did this mean no?  Had the universe responded with a no? 

After those months of what felt like an eclipse, I woke up one morning, and drew open the curtains and looked outside. I noticed the colors of nature, the sunshine. I looked up at the blue sky. I felt free. The dark cloud had gone.

I felt as if a weight had been lifted off me. I felt liberated although nothing had really changed. I realized that the burden of the decision had deeply affected my happiness, my very nature. I acknowledged my internal conflict and let it go. I let all my thoughts go. I decided that I didn’t want to fight and resist anymore with this disease. These were precious days and I still had my son. My perfect, sweet child of 17 was here with me, to touch, to hug, to love. Nothing was going to get in the way.

We never did have the spinal-rod surgery. My son is 18 in a few months. We are in the so-called “late stages” of Duchenne.

I was recently at a back to school night for my younger son, where parents and teachers get to meet and connect. I noticed during the five minute interval between classrooms, how the crowd of parents rushed along, headstrong, serious and focused and impersonal, not even stopping to say “hello”.

And then I wondered about the world of students, how in contrast they would amble along, chatting and laughing, carefree, drifting from classroom to classroom.

I thought about my son with Duchenne, how he has missed much of this experience since he is home schooled, and how he may appear as an outsider. I reflected on his positive outlook, his radiance, and his mind so full of ideas and dreams. As I continue to navigate through this sea of uncertainty, I realize that I need to steer a less rigid course and to adopt a less serious way of thinking, and to enjoy the journey rather than worry about what comes next. After all, the future is something I have little control over.

I stood somewhere in between the two worlds that evening of focused parents and carefree students. I stopped amidst the flow of the parents hurrying past me. I opened my arms wide, as if feeling for raindrops. Even though the dark cloud had gone, there were still going to be rainy days, there were still tough days ahead.  But I had a renewed lightness of being. At that moment, I realized that through my journey with Duchenne, I really had learned to dance in the rain.