A few years ago, I met someone who has since become a friend. His unusual looks immediately told me he had Marfan Syndrome. (I worked for years in a medical school and had learned about the syndrome there.) Marfan is a genetic disorder that affects the connective tissue that holds our bodies together. It occurs in approximately 1 in 5,000 – 10,000 people and affects both males and females because it is caused by a dominant gene. Sometimes the gene is inherited from a parent, but the mutation that causes Marfan may occur spontaneously in an individual. Marfan can play a role in many health problems, most especially in the heart, eyes, and joints.
A famous example thought by many physicians to have been a Marfan patient in Abraham Lincoln.
Like Lincoln, my friend is exceptionally tall—6’8”—very skinny, with very large joints and huge, long hands and feet. To me, he looks like someone who would have knee problems and I soon discovered that was true. I have seen tall people—basketball or volleyball players, for example -- but my friend’s proportions are very unusual, even to those who have never heard of this syndrome. He is an artist, carpenter, and animal lover with an inquiring and creative mind. He is kind, gentle, and thoughtful and being unusual is perhaps part of that.
Even after becoming friends, I never mentioned Marfan to him. In our politically correct society, with its sensitivity to people who are “different” in some way, I found it hard to imagine a situation in which I could or should bring it up. My feeling was that if he wanted to talk about it, I’d be happy to, but his genetics really didn’t influence the character traits I liked in him.
After all, you simply do not walk up to someone and say, “Oh, I see you have a genetic disorder… you have a handicap… you have a physical or mental problem…” No. Definitely no. Rude, none of your business, obnoxious and insensitive. Even though I have a mild handicap resulting from an accident and frequently refer to myself as “crippled”—NOT using the P.C. term “disabled”—that is my choice. I don’t impose it on others.
A few months ago, my friend offered to guide me and my husband to an area where he had found some fossils he had shown us. We had trouble finding a mutually convenient time. Also, he mentioned having some health problems he wanted to get sorted out first—problems that his significant other told us were related to a hiatal hernia. Fine, we can postpone the outing until he is feeling better.
Just a few weeks ago, my friend learned that he had Marfan syndrome. He was consulting his doctor about the surgery for the hernia and—for the first time since he was born 58 years ago—a doctor mentioned Marfan and explained what it was. My friend was staggered. Ironically, sadly, we knew he had Marfan several years before he did! Almost all the physical problems he had had his whole life long are Marfan-related and yet he no doctor had ever brought up the problem. I know the syndrome is unusual, but I am not a physician and I knew about it. Now he is coping with this new discovery and the painful realization that the heart problems that killed his only daughter in infancy were probably caused by Marfan syndrome.
Why didn’t anyone tell him? He didn’t grow up in the Third World or someplace where there is little medical care; he grew up in the U.S.
How could such a classic case of Marfan go so long undiagnosed?
What about his parents? When their son grew 16” in one year, didn’t they realize that their child was more than simply unusually tall?
My heart aches at the thought of the teasing and the problems with self-image he must have struggled with as an adolescent. And yet all along, there was a simple answer, a solution that would have let him tell the bullies and the teasers “Marfan does not mean Martian.” (This is the title of a book advertised on the National Marfan Foundation website.) What a cost ignorance extracted from an innocent child!
So I ponder again and again, “Should I have said something?” I am not a physician. Though I was quite certain he had Marfan, I don’t know how a clinical diagnosis is made nor could I have offered much useful advice. But it might have been good for my friend to know earlier, to get medical attention sooner. Where is the line between helpfulness and hurtfulness?
I wrote this blog and sent it to my friend, asking his permission to publish it. He agreed and added, “Perhaps it can and will help someone else. For me, it was a rude awakening and a shock—especially the realization that this condition was responsible for the death of my daughter. I never would have had children if I had know about it. But I do have a son without Marfan—healthy and in his 30's. So it's hit and miss, as everything is. There are so many questions I have now about my health and what I can expect as I get older. My knees are shot, and other things in my body seem to be going quite fast. I have 58 years of whys!”