The precious gift of a rare disease diagnosis

The first year after our son’s Duchenne diagnosis was difficult, confusing, and frustrating. We didn’t know where to turn, what questions to ask, and how to advocate for our son in a real and meaningful way. We also had the wild experience of a global pandemic just weeks after this heartbreaking news. Our small family of 3 was so thankful for the extra time we gained during the pandemic without commuting, social obligations, or trips on the calendar. We had time and space to dig in and focus on what mattered most: being together.

We quickly realized some ways in which Duchenne steals our priceless moments: it robs us of joy in milestones, like learning to ride a bike (for how long..?). It darkens our holidays (Happy Birthday..but how many more?). It isolates us from others (can’t join family, friends, and classmates on sports teams).

Processing the magnitude of this has been impossible, but there was a gift hidden in that darkness. Presence. Real presence and undivided attention.

Knowing the time we have as a family is likely limited means you pay more attention, laugh more often, take more photos and say yes to the adventures and put down that phone. It turns out Twitter and Instagram can wait, while this little boy has so much to do and teach us each day.

I didn’t think such a thing could happen, where my husband and I would look back and be grateful because we are better parents as a result of Duchenne. We lay in bed every night and look at the photos of William each of us took, and we still look at the monitor multiple times just in awe of our precious boy and who he is. We still have hard days (he is still 3, after all, and very strong-willed like his mom), but they are all taken differently now. One more book at bedtime is a pleasure. 15 more minutes outside is welcome. When he delays leaving the house, we don’t fight it: who really cares if we’re late to school or a friend's house? We try to be more understanding and more patient with William and kind to each other.

Time is a gift. I think we all understand that in a new way after last year. In 2021, my hope is that others can embrace the same. Parents of children with rare diseases also understand this in a unique way. I wish it was different and sometimes I feel like an imposter here with the others. But we aren’t and this is us.

Let’s cure this thing.

This summer, Joe, Kati, and WIlliam will be enjoying time together, beating the heat on the river and waiting for the arrival of William’s baby brother!

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