Dinner, DNA, Discovery
Harriet and Chuck came to dinner last Sunday. I met Chuck on my first trip to Dallas when I began the clinical trial in February 2012. We keep in touch with email and our monthly phone chats. They live in Oergon.
Chuck’s lost many family members to the disease. I believe his mom, dad, cousin, aunt all died from APBD. Harriet is Chuck’s wife, a brilliant woman with a heart larger than a harvest moon. She organizes our monthly chat group and facilitates it.
From the moment Harriet and Chuck walked in the door we felt close. After all we are integral to a most elite tribe, that of APBD. With billions in the world we are mere hundreds. An orphan disease is one with 1,500 or less, we are so orphan we aren’t even born.
Would we have wished for membership? No. But as we laughed and shared anecdotes, ever-shining Harriet pointed out, “if not for APBD we wouldn’t be here enjoying each other.”
There is no room for pretense, disingenuousness, formality. It’s cut to the chase: pass the tomatoes w parsley/feta; I fell the other day, more lentil salad, my bladder is a little better/no more self-cathing, yes lemon in my sparkling water please.
Given our shared mutation, Chuck and I may be related. All of us from Ashkenazi origins with this mutation most probably are. I’m getting a DNA analysis.
As we were hugging goodbye Harriet said that we should have an APBD road trip. I burst out laughing visualizing the circus—we might make it to the highway by dusk. “I have to eat something.” “I’m just gonna nap for 25 minutes.” “Sorry, have to pee again, hope it won’t take 20 minutes this time.” “Who just fell?”
Btw: disease with even worse name than APBD: “…leishmaniasis… difficult name that nobody remembers…not snappy, like sleeping sickness or river blindness.” Or…
From Dr. Dillon in today’s NYT Science Section.