Anyone here with Marfan syndrome knowledge willing to give an opinion?

[Tap]

DD15, Ds19 and I all have some common physical features of Marfan syndrome.  Nothing too obvious, just noticeable if you know what to look for.  Ds is 6' tall and dd is 5'8"+.  They are not super tall, nor do they have any known problems that make a diagnosis urgent. Just thinks like the positive thumb test, fingers around wrist test, flexibility, high pallet, crowded teeth, arms reach is a couple inches longer that height, etc. 

 

Last year, I had dd into an orthopedist to take a quick look at her back after a bad fall (pain was traveling up her spine and getting worse, not better after 2 days).  She was heading to camp and I didn't want to send her if there was an serious injury. Doc declared her fine, but said no matter what, he wanted a meeting with us in 2 weeks.  I suspect from the tests he was doing and measurements, he suspected Marfans.  We didn't follow up because honestly, I don't know if we want the diagnosis or not.  Here is why...

 

A few  years back dd had some fainting so she was referred to a cardiologist who did an EKG and Echo. He says her heart is perfect.

She has dyslexia and gets eye exams at a teaching clinic so they spend about an hour doing eye exams on her (medical and vision)...again her eyes are perfect.

 

Since those are the two major health issue with Marfans, do we still need the diagnosis?  

 

She hates being tall and thin.  She wears a size 4 tall, so while her torso is a normal thin size for a teenager, her arms and legs are quite thin and that makes her feel a bit awkward.  (I am built the same way so I understand the feeling).  Right now, she says she doesn't want to grow anymore and was disappointed when she officially hit 5'8" (she is taller now but I haven't told her yet).  Telling her that she could keep growing, will devastate her..especially if she Googles a pix of Marfans.  Since she is so lanky, I think she feels that she will just keep getting stretched thinner and thinner if she keeps growing.  

 

So my questions is....if you know the major health issues aren't issues...would you still look for a diagnosis?

 

 

And then there is DS....aside from general eye exams, his health 'seems' ok.  

[Jean in Newcastle]

The one person I know with it has extensive joint pain and has to use a cane.  Not sure if that is "normal" for the condition but a proper diagnosis helped them with some treatment options.  Don't quote me on this but I think he had some sort of a surgery?  

[TCB]

I think that the risk of aortic aneurysm is higher with Marfans syndrome and that may be something that needs to be monitored. Not sure if it is something that can be checked for once or if it needs regular monitoring.

[KrissiK]

I think that the risk of aortic aneurysm is higher with Marfans syndrome and that may be something that needs to be monitored. Not sure if it is something that can be checked for once or if it needs regular monitoring.

The one person I knew who had Marfan Syndrome passed away because of aortic aneurysm. That is definitely something to keep in mind. Personally, I would want a diagnosis regardless. I'd just want to know.

[Susan in TN]

Ds went in to see a GP a couple years ago for a routine physical and left the office with orders to have an EKG and an eye exam (to look for a specific feature) for possible marfans. We had both those done and everything looked fine, so we have essentially dismissed it.

[tabinfl]

If it ends up that she wants or needs to look at pictures, check out Positive Exposure ( http://positiveexposure.org ). Rick Giudotti's mission is to show the beauty in people with physical and behavioral differences. Seeing a condition like Marfan's through his lens (or participating in a photo shoot) can have a powerful and empowering experience. He's also working to educate medical personnel and change the images used in medical texts and reference materials.

[Element]

I am familiar with Marfan Syndrome only because it came up for a brief moment before my dd was diagnosed with EDS (Ehlers-Danlos Syndrome) so take my advice with a grain of sand. I would follow up with the doctor and get a dx. Speak to a geneticist if you can. If Marfans is like EDS (and I have no idea whether or not this is the case) the heart and eye complications can develop at any point, so she will want to be rechecked again regularly. My dd is supposed to have an heart function test every 2-3 years and see a pediatric ophthalmologist twice a year, despite the fact that we have yet to see any heart or eye problems related to the EDS. I don't think insurance would cover her specialist checkups if she didn't have a dx. However, I realize EDS is not Marfans. I wish I had more helpful or specific advice to offer you. 

 

 

[Tap]

Advice is what we ask for when we already know the answer but wish we didn't.  ~Erica Jong, 

 

 

I guess I really do know the answer.  I just want to avoid dealing with it.  Maybe I will get myself tested  and then I will know if I should get them tested or not.  LOL   

 

 

 

 

[Laura Corin]

There's also the question of insurance.  I haven't been following the progress of legislation in the US, but it's worthwhile considering the status of pre-existing conditions.

 

L

[Momof3littles]

Yes, I would want a diagnosis.  I have worked in healthcare with a few people with Marfan's.  One was a patient being seen for routine orthopedic issues (joint replacement, he was 60ish).  His sisters were only diagnosed once they came to visit him.  I think he received his diagnosis later in life or maybe while hospitalized, but the sisters were not diagnosed until they attracted some attention at the hospital. 

 

One okay from the cardiologist would not make me 100% confident that there will be no ongoing issues.  It is certainly a positive, and I'm sure reassuring .  Ongoing monitoring and viewing concerns through the lens of Marfan's may result in the physicians doing different screenings, looking more carefully for Marfan-specific issues, etc.

 

So yes, while I understand the temptation to avoid, I would not avoid it in this case.

[QueenCat]

There's also the question of insurance.  I haven't been following the progress of legislation in the US, but it's worthwhile considering the status of pre-existing conditions.

 

L

 

With our new health laws, insurers can no longer exclude people or medical issues that are pre-existing.

 

[Katy]

Gently... get a diagnosis. And not just for physical dangers, but emotional ones too.  One of the difficult things about something like that is adjusting to it, and the sooner the better.

 

The one person I knew with Marfan's committed suicide at 19.  He blamed Marfan's for a girl not liking him back (a girl all his friends had a crush on, and she wasn't interested in any of them).  If only he had talked to someone- a therapist, a pastor, anyone, about what he was going through.  Everything might have turned out differently.

 

 

[ThisIsTheDay]

 

So my questions is....if you know the major health issues aren't issues...would you still look for a diagnosis?

 

 

 

 

If this were my family and my dd, I would wait. It seems highly likely that it would not be beneficial for my child at this time and would in fact do more harm than good.  

 

:grouphug: