From Theory to Reality: a Grandparent’s Perspective on a DMD Diagnosis

I practiced medicine for over 3 decades, caring for adults, mostly seniors. I have guided patients and families through difficult times and provided a great deal of end of life care. None of that prepared me for coping with the shock of a serious diagnosis affecting our beloved grandson William, now 2 years old.

About a year ago William had some abnormal lab work and, after follow-up testing, he has been diagnosed with Duchenne muscular dystrophy. This is a diagnosis of children so I had never encountered it in my medical career. We have no family history of this genetic disorder. Presently he is asymptomatic and a very bright and beautiful child. His prognosis however is guarded and scary.

The clinician in me has great faith in science and research, having applied the evidence and learnings of recent decades in the care of many patients with diabetes, heart disease, cancer, and other common adult disorders. There has been significant progress toward improved patient outcomes for many of these conditions.  Muscular dystrophy is unlike the problems I have managed over the years. It is not common. There is no specific treatment yet. William’s particular mutation is vanishingly rare. We all hope for a historic breakthrough in gene therapy that will change the course of this condition and improve the prognosis for all affected kids, almost all of whom are boys.  Girls may carry a DM gene but virtually never have 2 copies and so are generally unaffected with this clinical illness. Any future curative therapy will require a very targeted, individual approach.

Needless to say we are dismayed and frightened for William, his parents Joe and Kati, his other grandparents, and our extended families. Grandchildren, particularly this one, are one of life’s special gifts and the conflicting emotions of great joy and profound sorrow are difficult to reconcile. Sometimes I have to just pretend this is not happening but the knowledge is always lurking in the background, disrupting sleep, intruding at unexpected times, and tempering hopes for his future. I find it hard to delve too deeply into learning about Duchenne’s as the information is so unsettling and frightening.

My son Joe and his wife Kati’s courage, grace, and resilience are remarkable. They have dived in deep to educate themselves, sought out medical experts, been proactive with any interventions that might help William, and have become strong advocates and fundraisers in the quest for a cure. Their joy and love for William is boundless. They are exemplary parents dealing with an unimaginable circumstance. William gets to be a very normal kid these days in the time before symptoms develop and watching his skills and personality develop is everything we could ask for. Nevertheless, without dramatic progress toward a cure, increasing challenges await him, his parents, and all of us. Our hopes are tempered by this realization.

During my medical career, I had to develop some emotional armor in order to cope with the stress of helping patients close to me through illness and decline. This is different. This is family. Our grandson. That armor does not protect me now. To contemplate his lost potential and to share in the journey required of his loving parents is almost unbearable. There is an unfamiliar sense of impotence and helplessness and no clear path forward other than to hold each other tight and make the best of every day. May there be many good days.

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