Marfan's Syndrome Question...?

Question

Hi, I have a question about Marfan's Syndrome...

When I was about 13, I went to a family doctor that noticed I had many, many, many of the characteristics of someone with Marfan's Syndrome (long thin arms and legs, long thin fingers and toes, a high arching upper palette, a small lower mandible, a protruding breastbone, poor hand/feet circulation, a heart murmur, mild scoliosis, etc).

So he sent me for a battery of tests at Children's Hospital. An opthamologist did a slit lens test, and it was perfectly normal. A cardiologist did an EKG and a test even more advanced than that where your heart shows up on a tv next to you, and my aorta, along with the rest of my heart, was deemed perfectly normal. In addition, I'm only 5'11, same heigh as my dad, and my mom and dad are 60 and in good health, and neither have any Marfan's symptoms.

Anyway, Children's Hospital declared that I was fine, that I did not have Marfan's Syndrome, and that I merely had a lot of physical traits of someone who does (called "Marfanoid Habiticus"). They told me there is no need for any follow-ups, because if I had Marfan's Syndrome, by age 13 either a slit-lens test onthe eyes, or the various high-end heart tests they ran, would have detected.

But I read some lady on here claiming she had no aortic or eye involvement until she was 30 or 35?

What I need to know is, did that battery of tests at age 13 truly give me 99% certainty I don't have it, or, were all the doctors wrong, and is that far too early to deem someone out of the woods for testing normal on those tests?

Answer 1

Hi, I just contacted the National Marfan Foundation myself www.marfan.org, I sent them an email and they got right back to me and sent me a thick package of information (I have a lot of reading to do) they also have a phone number 1-800-862-7326, if you prefer to call. If you email, tell them what cities you are close to and they will tell you their advice on where to go to look for help in your area. Good Luck.

Answer 2

I'm 15 and have all the same symptoms and have done all of the same tests as you, and they came to the same conclusion, except.. the lady who looked at my heart on the tv thing said it wouldn't necessarily show anything until I'd stopped growing, and I *think* the optician said the same thing.

My mum is still unsure, and is definitely going to get me checked out again when I'm about 18/19, or whenever I stop growing.

Answer 3

Another term used meaning the same thing as Marfanoid Habiscus is emerging Marfan meaning simply there aren't enough symptoms yet.  Marfan also isn't the only connective tissue disorder and more are being named all the time now so it could be a similar one, such as LDS, EDS (which has several classes), Beals, MASS... The National Marfan Foundation and related disorders website at marfan.org will give lots of information on marfan and some on several other ctd's.  The office also has a nurse on staff that can get you information.  Another thing to take into consideration is how much the doctors know about Marfan.  For instance a basic slit-lamp test read by someone not that familiar may only be looking for loose lens' and there are more things a marfan specialist could pick up.



There is also a checklist that you can find by doing a search for diagnostic criteria on marfan.org.  You mention some of the skeletal features, check the list to see if you have enough of the ones to meet that area.  Either eyes or cardio or spinal system would need to be present or family history to get a clinical diagnosis.  Even if you did DNA it can give false negatives, that's how undefined marfan really is!.  Marfan knows no boundries, any age, race, size and shape can have marfan.  Even though the stereotype is tall and lanky these aren't requirements.

I've known several people who didn't know they had Marfan until they lost grown children so it is not impossible to be diagnosed in 40's, 50's and even 60's.  

An EKG isn't going to show anything that specifies Marfan.  An echo would for the most common problems being the valve and valve areas but disections can happen anywhere in the aorta also.  Some other ctd's have aneurysms in other vessels also.  From what you've said I'd at least ask for an echo every 2 years, doctors going 3-5 years are using old guidelines and you are the one that will suffer if a problem is found too late.

A couple people you can probably find examples of finding out older and too late would be Jonathan Larson, writer of RENT, I believe was in 1996 that he died, and Flo Hyman who went to the olympics even several years ago.

I hope you don't have it but I don't think at age 13 they could give you 99% guarantee.

Answer 4

Marfan's is a 'big brother' to  Ehlers Danlos Syndrome, my daughters both have this (EDS).  You can find more info about Marfans through links at.

www.ednf.org.

I know there is an EXCELLENT geneticist that people travel the world over (seriously) to meet with her. Her name is Dr Clare Francomano in Baltimore Maryland. She is the leading geneticist in EDS & Marfans. If you need more help please feel free to contact me privately.

Blessings,

LaQuita B

[e-mail]

Answer 5

those are the tests that can diagnose you with Marfan's syndrome, since it was all negative i think you may be cleared of it. . but if you are not confident you have yourself rechecked in about 3-5 years just to put it out of ur mind.. . .