Marfan's Syndrome

**conceited** · Posted On: 11/06/2008 4:17pm

Not sure really to be honest, I just know what the doc told me in that regard. As in, don't get too excited, too worked up etc. Pretty vague terms really other then the whole "If you get punched in the head you die" stuff. I think that's why I need to see someone who actually has a good grasp on what the syndrome actually is. Having trouble finding them at present.

**KO'd N DOA** · Posted On: 11/06/2008 4:33pm

Originally Posted by conceited

Yea, I know for a fact I have Marfan's three specialist plus my regular confirmed it.

I'm in the market to find a Marfan's specialist right now, but I can't find jack in my town. I'm currently shopping in Kansas City to see if there might be someone down there. I've also initiated some e-mail chats.

Has this been confirmed by others in your family??? It is an inherited trait that you can get from either someone who has it, or whose sperm got mutated...usually an older father.

A complete evaluation for the Marfan syndrome must involve careful inspection of the family history. It can save considerable time if the available data are retrieved before the appointment, although invariably additional questions are raised (especially by genetics specialists!) that require more research into the family tree. There is often a fine line between working with relatives in a constructive way, and prying into personal issues that are quite emotional. A genetic counselor can suggest ways of dealing with situations where confidentiality and self-interest clash. http://www.marfan.org/nmf/GetSubCont...menu_item_id=3

Conceited, there are worse things to do than cease training hard in MA. Coaching and being a ref keeps you in the action, and give you a full life. But this is a hard hand that you have been dealt going way beyond MA. Keep looking for answers, and beware of the snake oil.

**TheRuss** · Posted On: 11/06/2008 4:41pm

Short term: Don't **** around with potentially risky activities.

Medium term: Find a better specialist. I'm not a doctor, but it might be possible to assess how severe each specific symptom is for you, and how much of a risk it poses. Presumably, if the symptoms associated with elevated risk from martial arts are mild for you, you might be able to resume said activities. (It might be worth consulting with specialists in the fields of the specific symptoms - cardiologist, opthamologist, etc.)

Long term: Hope for a treatment. There's currently a trial going on with losartan (I think it's this one). Keep on top of that.

**conceited** · Posted On: 11/06/2008 4:46pm

We're doing a full search for possible Marfan candidates in my family right now, so far we haven't found any. The only leads we have is my dads cousin who died suddenly and had an enclave chest. Then there's my Grandfather on my mothers side, who looked very similar to me build wise who also died suddenly. They both died long ago and we're having trouble trying to figure out if they had it or not.

Yea, I know there's definitely worse things and I'm trying to take it in stride. I've been helping coach my nephew in wrestling and it sucks I won't be able to roll with him anymore but at least I can walk right?

**conceited** · Posted On: 11/06/2008 4:51pm

Originally Posted by TheRuss

Short term: Don't **** around with potentially risky activities.

Medium term: Find a better specialist. I'm not a doctor, but it might be possible to assess how severe each specific symptom is for you, and how much of a risk it poses. Presumably, if the symptoms associated with elevated risk from martial arts are mild for you, you might be able to resume said activities. (It might be worth consulting with specialists in the fields of the specific symptoms - cardiologist, opthamologist, etc.)

Long term: Hope for a treatment. There's currently a trial going on with losartan (I think it's this one). Keep on top of that.

I haven't actually spoke to my specialists regarding the risks associated with specific symptoms vs being punched/kicked etc, that's a good idea. I'm going to see my Cardiologist tomorrow and I'll check in with my ophthalmologist next week so kudos to that. Haven't heard of the clinical trials, I am on a B Blocker currently though. There is treatment, but from my understanding it just keeps me from dying 30 years early, doesn't let me get back to getting my head knocked in.

**TheRuss** · Posted On: 11/06/2008 5:52pm

Originally Posted by conceited

There is treatment, but from my understanding it just keeps me from dying 30 years early, doesn't let me get back to getting my head knocked in.

Well, yeah. If your symptoms aren't advanced enough to stop you from doing MA right now, and you can stop them from progressing further, then... you're okay.

**CoffeeFan** · Posted On: 11/07/2008 12:03am

Wow, good luck man, that's a heavy diagnosis. Listen to your doctors for now, wait until you can get another specialist to tell you different before you start messing with something that can kill you.

**Matt Phillips** · Posted On: 11/07/2008 9:07am

Man, that's a tough break for an athlete. I think the suggestion of reffing was really good. Light rolling shouldn't hurt anyone. Good luck.

**ijay** · Posted On: 11/07/2008 10:02am

Originally Posted by TheRuss

Well, yeah. If your symptoms aren't advanced enough to stop you from doing MA right now, and you can stop them from progressing further, then... you're okay.

Man, that's a tough break for an athlete. I think the suggestion of reffing was really good. Light rolling shouldn't hurt anyone. Good luck.

What the ****? His doctor told him not to excersice or he dies, and you guys tell him to continue as nothing is wrong?

Yeah, sorry dude that sucks, but do what your doctors told you to do. (That is, don't actually do anything.) Find another opinion sure, but in the mean time don't do anything stupid. From what I know of marfan's your first doctor was pretty much spot on. That sucks, a lot, but quitting martial arts is not the end of the world. Dying is.

Just because you've been active and gotten your heart rate up and have not died does not mean that you wont the next time you do it. The walls of your aorta are likely very weak, and if there's a rupture, you're dead. Exercising and getting your heart rate up increases your blood pressure, which means more pressure to your aorte, which again means that its more likely to rupture.

Also, if you're lucky and they find a cure, that drug works or something, maybe in few years you can take up martial arts again. You can't if you're dead.

I'd say trust your doctors on this, and not some dudes on the internet. They do know what they're doing.

Sorry if this was harsh, but IHMO you need to understand not to fool around with a condition like this. And yeah, good luck.

***jnp*** · Posted On: 11/07/2008 10:04am

I wonder if there are any sports medicine doctors that are familiar with Marfan's syndrome in your area? That's who I would ask. Sports medicine doctors usually have a much better understanding of an athlete's capabilities/limitations.