Over the last few years, I’ve had the opportunity to work with patients at various stages in their diagnostic odyssey. I’ve seen people who have lived their whole lives knowing they had a genetic condition. For them, their understanding of the changes in their genes shaped and colored their world from the time they were a small child. I’ve seen parents of newly diagnosed newborns say it feels like the very earth below their feet is shifting, changing, and threatening their nine months of mental and physical preparation when their baby’s diagnosis is made. And I’ve also seen the people who have lived their lives, comfortable with the way things are, finding themselves not only being diagnosed with cancer, but also being told their relatives are now at increased risk to develop cancer.
Regardless of where people are in their journeys, I’ve noticed that they somehow balance both intertwining their genetic condition into their personal identities and having a mental mindset that if they just try hard enough, they can actually edit the very gene changes causing their genetic condition through sheer willpower. While I don’t believe there’s a particular sweet spot to achieve perfect balance between these opposing forces — it varies from person to person — it changes the questions that people ask, and the very nature of their genetic counseling session. And while they may not think anything of it, it matters to me.
I recently reviewed the ways people cope with particularly stressful situations, such as receiving a genetic diagnosis for themselves or a loved one. A specific section described how if a person feels a situation or threat is controllable, they often use problem-solving skills to cope and modify the threat. However, if they feel the situation is out of their control, they will likely instead use emotional coping mechanisms.
For example, a patient facing an increased risk of cancer may decide to do additional screening or even a risk-reducing surgery in an attempt to minimize his or her risk to try to control a future diagnosis. Parents of a new baby diagnosed with a genetic condition that impacts learning, however, may use emotional coping mechanisms as they absorb learning that their child will have challenges when it comes to doing the same things as other children as they grow up.
While I’ve certainly seen this play out before my eyes, it still feels like a new discovery. You know what kind of discovery I mean? When you realize something so simple, yet it somehow makes the world around you just a little more magical and understandable. Like, how you look at the stars just a little bit differently after learning you’re looking into the past. That kind of discovery. I thought back to some of the patient stories ingrained in my memories and determined whether this came into play. Sure enough, it did.
The Friday after Rare Disease Day (did you celebrate?!), I had an amazing opportunity to hear a panel of parents and patients talk about their experiences with rare disease. One was the mother of a little girl with Marfan syndrome diagnosed shortly after birth. She said something remarkable — that she loves Marfan syndrome because it is part of her daughter. Sure, her daughter has had open heart surgery, and it wasn’t a bed of roses, but it was part of who her daughter was, part of her very being.
Regardless of whether you feel the same, please know that ThinkGenetic supports you and is here to help. A huge influx of new professionals are excited to work in the rare disease space and genetic conditions are becoming better researched and recognized. What may have once been a difficult and lonely diagnosis is becoming more understood, more familiar, and more manageable.