Our story began 14 years ago when my son, Wil was diagnosed with Duchenne muscular dystrophy. When a child is diagnosed with a terminal illness, a definitive line is drawn in what life was and meant before diagnosis and what life is and means after diagnosis.

The years leading up to the birth of my two children were spent servicing other children with varying exceptionalities as a Speech-Language Pathologist. I can clearly remember the shift in my career performance once I had children of my own. There was a marked increase of understanding another’s perspective. I was able to better understand parents’ worries, frustrations, joy, and triumphs. It wasn’t until my son was identified as a child with special needs when I completely understood. The difference was, however, my son was diagnosed with a life-ending condition. This was unfamiliar territory for me from any perspective.

In a sense, my life’s path prepared me for this journey with Duchenne muscular dystrophy. For my son, the diagnosis provided a sense of relief. At the time of his diagnosis when he was a tender 7 years old, he often questioned, “Why am I slower than my friends?” “Why can my little sister run faster than me?’ “Why do my legs get so tired?” The diagnosis lifted the emotional burden he carried all those years before and gave him answers to his questions. As for me and our family, the diagnosis brought fear, grief, denial, and frustration. Emotions were fragile and everyone was in a different mental place – never the same place at one time. We became hyper focused on the ins and outs of the disease and tended to lose focus on living in the now.

The progression of Duchenne has led to a loss of Wil’s physical abilities to run, jump, stand on one leg, hop on one foot, rise from the floor, climb stairs, and walk. Psychosocial effects have included adjustment and depression, coming to terms with the progression of Duchenne, asking ‘why me?’, avoidance, and anxiety. Cardiac effects have included decline in ejection fraction of the left ventricle. Sleep has been impacted over the years including insomnia and sleep apnea. All the while, Wil continues to smile that infectious smile. Despite all that Duchenne has taken from Wil, he continues to exude humility. He has taught us all to truly live in the moment and simply, be happy. A wonderful friend told me those many years ago that Wil was equipped for the journey and reminded me to let him take the lead. And so, we did – as he has grown into an adult – we have admired his Determination, his Undefeated spirit, his Compassion, his Humbleness, his Empathy, his iNtelligence, his iNtuition, and his Endearing smile.

In the beginning, we focused on what he was going to lose. Once we saw what he provided to those around him, Duchenne became just a part of who he is rather than his whole identity.

I implore you to embrace every moment – focus on abilities – and let him lead the way.

Mother, Son, Daughter and Father standing together in a field

Duchenne Muscular Dystrophy (DMD)

What is it?

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that affects the muscles, leading to muscle wasting that progresses over time.1

What causes it?

Duchenne is caused by a mutation (change) in the DMD gene, which provides instructions for making a protein called dystrophin. Mutations in the gene prevent muscle cells in the body from producing dystrophin, causing muscle weakness and heart problems.1

What are some of the common symptoms?2

  • Delayed motor development (taking longer to learn to sit, stand, or walk)
  • Enlarged calf muscles (pseudohypertrophy)
  • Muscle weakness
  • Toe walking or waddling gait
  • Using hands to get up off the floor (Gower’s maneuver)
  • Progressive enlargement of heart (cardiomyopathy)
  • Breathing problems

How many people have it?

Duchenne affects an estimated 16 live male births per 100,000 in the U.S.2

Common Names for DMD1

  • Duchenne/Becker muscular dystrophy
  • DBMD
  • Psyeudohypertrophic muscular dystrophy

1Duchenne and Becker muscular dystrophy. Nation Institutes of Health: MedlinePlus Website. https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/. Accessed January 6, 2021.

2Duchenne muscular dystrophy. Nation Institutes of Health: Genetic and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Accessed January 6, 2021.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].