As I watched my grandson and his team warm up for their Saturday morning lacrosse game, a long parade of mostly purple-shirted adults and children of all ages began to weave its way around the periphery of the athletic field complex. A quick reading of the hand-lettered and machine-printed shirts made it clear that I was watching a charity walk for cystic fibrosis. There must have been several hundred walkers strolling by, laughing and chatting with one another. It lent a festive atmosphere to the park. I suspect that for most of the participants this was not their first fundraising event for cystic fibrosis.
The motley mix of marchers probably included several handfuls of parents of children with cystic fibrosis. I wonder how many of those parents realized how fortunate they were. Cystic fibrosis isn’t a great diagnosis. But at least it is a diagnosis, and with the diagnosis comes a community.
Reading a front-page article on DNA testing in a recent Wall Street Journal issue had primed me to reconsider how even an unfortunate diagnosis can be extremely valuable for a family (by Amy Dockser Marcus, May 18, 2019).The focus of the article was on the confusion and disappointment that are the predictable consequences of our current inability to accurately correlate genetic code “mistakes” with phenotypic abnormalities. Of course there have been a few successes, but we aren’t even close to the promise that many have predicted in the wake of sequencing the human genome. The family featured in the article has a ridden roller coaster ride through two failed attributions of genetic syndromes that appeared to provide their now 8-year-old daughter with a diagnosis for her epilepsy and developmental delay.
In each case, the mother had searched out other families with children who shared the same genetic code errors. She formed support groups and created foundations to promote research for these rare disorders only to learn that her daughter didn’t really fit into the phenotype exhibited by the other children. As the article indicates this mother had “found a genetic home, only to feel that she no longer belonged.” She had made “intense friendships” and for “2 years, the community was her main emotional support.” Since the second diagnosis has evaporated, she has struggled with whether to remain with that community, having already left one behind. She has been encouraged to stay involved by another mother whose son does have the diagnosis. Understandably, she is still seeking the correct diagnosis, and I suspect will form or join a new community when she finds it.
We all want to belong to a community.And with that ticket comes the opportunity to share the frustrations and difficulties unique to children with that diagnosis, and the comfort that there are other people who look, behave, and feel the way we do. We hear repeatedly about the value of diversity and how wonderful it is to be all inclusive. And certainly we should continue to be as accepting as we can of people who are different. But the truth is that we will always fall short because we seem to be hardwired to notice what is different. And the power of the longing to belong is often stronger than our will to be inclusive.
The revolution that resulted in the disappearance of the label “mental retardation” and the widespread adoption of the diagnosis of autism are examples of how a community can form around a diagnosis. But not every child who is labeled as autistic will actually fit the diagnosis. Yet even a less-than-perfect attribution can provide a place where a family and a patient can feel that they belong.
Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Email him at.