visit the National Marfan Foundation Web site.

It’s pretty weird to find out one day, just about a month after your 21st birthday, that you have a genetic disorder that could kill you before you turn 40. That’s what happened to me, and here is my story so far . . .

I was born with some of the classic indicators of Marfan Syndrome, but in the mid to late ’70s they didn’t have all of the fancy medical diagnostic equipment that we have today and my symptoms are really pretty mild compared to what they could be. No one really gave it too much thought for 20 years, so I have dislocated lens and some longer than average limbs-that couldn’t be a ‘syndrome’ could it?

When I was 20, my vision became markedly worse, the shape of my eye was changing radically and the doctors couldn’t figure out why, so like doctors do, they sent me to some specialists. And like specialists do, they ran a whole bunch of tests to rule out things like bubonic plague, martian venereal diseases and chronic halitosis. Along the way, they revisited the idea of Marfan syndrome, I know that they must have been grasping at straws because that means someone actually read my chart all the way back to the first couple of years of my life-you don’t get that kind of treatment unless you are a medical marvel or something. Well I guess I am.

After much hemming and hawing, they sent me to a cardiologist, who ordered up thousands of dollars in EKG, echocardiograms blah blah blah and then when he thought he saw something, he sent me right to the man Dr Reed Pyeritz. This guy is possibly the world’s foremost clinician and physician in regard to Marfan Syndrome, and even he wasn’t sure I had Marfan Syndrome. But in the end he couldn’t do anything else but drop the bomb, there were just too many coincidences.

So there I sat, I had the answer to my many small chronic ailments: eye problems, joint pain, slow healing of cuts and bruises, weird stretch marks on my shoulders, all that goofy shit. And I also gained the knowledge that at any time my aorta cut burst open and I could die in minutes.

Talk about a bummer!

Dr. Reed put me on beta-blocker drugs to keep my heart in check and he told me and told me and told me that I have to drop some weight (like 50 pounds) and that I shouldn’t ever consider myself a candidate for contact sports or marathons (like that would ever happen) and sent me on my way. That was four years ago, I went back to see him once about a year after my initial diagnosis and he told me all of the same things, especially since I stopped taking the drugs and didn’t lose the weight and continued to play rough-house sports at school.

Today I am living in denial, I can admit it but that doesn’t mean I am going to do anything about it. I guess that if I forget about it, my life can seem normal. I don’t want to live with a ‘syndrome’. I don’t want to think about the 50% chance that my children will inherit my genetic mutation. I especially don’t want to think about my children getting a severe form of Marfan syndrome and being physically malformed and doomed to an early death.

But it doesn’t go away. And I can’t escape probability. And I can’t accept any of it, damn it.

Is it wrong to be angry? Is it wrong to want to wish my misfortune on someone else, a nameless stranger I will never meet perhaps? Is it wrong to play this down with my wife , family an friends?

The short answers would be: No, no, and yes.

Looks like it is time to put my hands in the water and start to paddle, because I have certainly put myself up the creek without an oar.

Don’t be like me, if you’ve got a problem: attack it head on. That’s what I am going to start to do, and I’ll keep you up to date as it happens.

on pregnancy

When my wife was pregnant I learned one thing, everything they say about pregnancy is true.

Medical texts, old wives tales, baby name books, advice from strangers in the grocery store all carry the same weight… because being pregnant is what you make of it. It can be the biggest and greatest thing in your life or it can be an apocolyptic event–the choice is up to you.

on miscarriage

First reaction: I wouldn’t wish this on anyone.

There’s not much you can say to make this better. Sure, millions of other people have gone through the same thing, but that is them… not me.

My wife and I hadn’t expected baby in the first place. In fact, we were actively using the pill and somehow it didn’t make a difference. At first I was pleasantly surprised when my wife gave me the news, and then in the following weeks I went through a rapid series of emotions (shock, fear, anguish, awe, worry) that culminated in a fundamental shift in mindset. After two weeks, I was ready for us to have a baby. Prepped with a new short term financial plan and new long range goals for myself and our family I was going to take the world–and win. We told everybody that we were pregnant (including family, friends, co-workers, and strangers and we started looking for ways to save money so that we could move into a house. We spent more time together than ever before and were both very diligent about diet and exercise–our baby was going to have all of the advantages even in womb.

At 7:00pm on a Saturday, I was at work finishing up some web pages and got the worst call of my life to date… “I’m bleeding (sniffle) from…… there”.

I still don’t remember getting up from my desk and running home, but I was in a full sweat by the time I got to the front door of the house. We called the doctor and got some reassurance, waited, call again, waited and finally went to the E.R. at 10:30pm. Somewhere around 1:30am Sunday morning, a foreign exchange resident told us, “Things just aren’t right in there, it’s weird, have you had a miscarriage like this before?”

T h e    W o r l d   S t o p p e d

I didn’t really even understand what she meant until my wife started crying and the resident left the room. Because it was a weekend, it took three days and several tests to confirm that what had been our greatest hope was dead.

Several months later, the aftermath is not over. I told so many people that I couldn’t possibly tell them all about the miscarriage–it would be too awkward. I told very few people at the time it happened, and as a result, people that haven’t seen me in a while ask how things are going with the baby. It’s tough to see them struggle when I say there won’t be a baby, but what else can I do?

The best help I got was in a personal note from one of the Partners at my company, he had gone through similar trials of his own and his advice was something to the effect of “you won’t forget this ever, but you won’t hurt forever either.” And he was right.

I’m not all healed on this by a long shot, but I am on my way and the feelings of guilt are starting to fade. I don’t get choked up when I see an infant on TV anymore and I’m not so jealous of people with strollers. I know now that my first reaction–throwing myself back into normal life–was a bad one and that I should have taken more time to mourn properly. I also know that I didn’t do such a great job in supporting my wife…. since I wanted to push everyone away I assumed that is what she would want too. I was wrong, and I’ll be there for her the next time tragedy strikes home.

We never did go to the support group our doctor suggested, but that’s just for ‘them’… or so I thought.