Recently, while rushing into a conference room to give a talk to third-year students, I passed a man with a genetic disorder. Even at a glance, I knew exactly which disorder: he was about 35, had yellowish hair and pale skin, wore thick glasses and had nystagmus—wandering eye movements. It was clearly a form of oculo-cutaneous albinism (OCA), a group of inherited conditions resulting from the cell’s inability to produce pigment. Upon hearing him speak Spanish, I even knew which form of OCA it was, since Hermansky-Pudlak syndrome (HPS) is the most common genetic disorder in people from Puerto Rico.
In the brief seconds that our paths crossed, I wondered whether I should tell him about his diagnosis. I hesitated, though. After all, this guy wasn’t waiting for a consult. Should I tell him the adverse, potentially life-threatening consequences of HPS? That he probably has a bleeding disorder? That he’s destined to develop a debilitating form of lung disease that at best will leave him chronically short of breath and at worst might require a lung transplant? Or should I just leave well enough alone? After all, there was the possibility he already knew all this or had sought help. Was it my place to butt in?
This is the burden of the medical geneticist. We’re trained to examine external features, recognize patterns of abnormalities and assemble those patterns into diagnoses. Making a diagnosis is a real advantage in the clinic, but it’s not a skill you turn on in the hospital and turn off in the street. And so I wind up visually diagnosing Williams syndrome in the child walking through the mall with his mother, or Bardet Biedl syndrome in the daughter of one of my college roommates, or Hermansky-Pudlak syndrome in this man standing in the hall outside a conference room that I’m barreling toward. Yet I have never actually approached such individuals or their families about such diagnoses. I’ve never spoken to anyone aside from my patients. And it actually haunts me. Knowing the visual signs of disease can be a gift and a curse.
Even after 30 years of practicing medicine, I still haven’t figured out what I should do in these situations. It’s even more problematic when a diagnosis carries serious consequences: do I have an obligation to inform, or should I just mind my own business?
Instead of stopping to offer the Hispanic gentleman my card and asking him to call me, I proceeded through the door and launched into my lecture on genomic pediatrics. But I’m still thinking about him and the consequences of my inaction.
I really don’t know whether I did the right thing.
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Putting myself in the potentially-undiagnosed patient’s shoes, I would very much want someone to tell me. Particularly if he/she was backed by the credentials of an esteemed medical research institution like Einstein. Handing someone your card and asking them to call you seems like a very appropriate approach–then the ball is in their court. If they don’t want to know, they won’t call you; if they do, you are providing them with potentially life-saving information, yes?
As a pediatric ophthalmologist and strabismologist, I often face the same dilemmna. Do I approach the grocery store clerk in my neighborhood that I see once a week with a severe esotropia? I know it bothers him because, although he is very pleasant, he avoids prolonged eye contact. I am amazed sometimes when adult patients come to my office and didn’t realize until recently that something could be done for their longstanding strabismus. It begs the question that Dr. Marion put so eloquently, do I butt in or mind my own business? Case in point, I saw a beautiful young mother, with a longstanding exotropia (outward eye turn) who brought her infant daughter in because she was worried that she was exhibiting signs of the same thing. When I reassured her that her daughter was fine, she started to get teary eyed and said, “I just don’t want her to go through the same thing that I go through.” I then asked her if she ever considered having surgery and she told me that she thought it was too late. Needless to say, one month later she had a repair and couldn’t believe the results. She has not stopped smiling since.
Ilana, what a great story! Thanks for posting it. Reading about that woman made my whole day!
Hi Dr. Marion:
So good to hear from you again. The last time I did, I was one of those students you were lecturing back in the ’80’s! I think giving them your card is the perfect solution. It gives them a great way to get help if they want it, with no strings attached. I work with homeless families in the NYC shelter system, and I have found that giving patients a way to get help is one of the greatest things we can do for them. It’s empowering, and gives them hope…
Dr. Marion,
As a clinical geneticist like yourself I find this topic very interesting as well as quite controversial. I am also encountering such situation quite often. I suggest that we try to figure out the answer of two questions before approaching people with obvious genetic conditions:
– how likely is it that their diagnosis was already established (like Achondroplasia, Down syndrome are diagnoses that are quite obvious)
– are there important clinical complications that we may help anticipate/prevent
I realize that this may be difficult to figure out for a short period of time…but I don’t have a better answer.
I think that we should keep in mind that such people may be unhappy to be approached..
Great topic!
Dr. Marion,
Thank you for such a powerful post. As a Quaker, we use queries as a means of both self reflection and as a spiritual exercise to help us ponder and grow together. Thank you for trusting this community with your question. “It’s only when we ask for Feedback can we Feed Forward.”
Ms. Hess, thank you for your practical wisdom. I think/believe your response places the choice back into the hands of the patient. What a perfect example of participatory medicine!
Dr. Marion,
I can understand your dilemma- on one hand you do not want to invade the person’s private life, they might know that they have the genetic disorder and then on the other hand, they might not and you want to help like every physician wants to do. It is very thin line that you tread on. Your wonderful intentions were there and you know what, if I was that patient in the hall walking past you I would I want you to stop me and hand me your card. That way if I wanted the help it was there and it was offered to me. If not, then you did everything possible as a physician (and human being for that matter). By the way, Lisa was right, when you give feed back you can feed forward!!
Thanks for the blog,
Jen
Nice post Dr Marion,
While I understand your dilemma about not being too intrusive into a person’s life, I would feel absolutely comfortable to tell an individual something about himself that may help him.
Great story Ilana!!