Bicuspid Aortic Valve Disease

[aussigal]

OK..peoples this is what the most likely verdict is...

The genetics specialist doesnt think I am a Marf, but he has ordered the eye-test just to make sure. However he has read a little about BAVD and is now going off to re-learn all he knows/knew about it again cos he hasnt had a family with this to treat yet!

I have some Marfan characteristics but my aneurysm & dilations are at the wrong-spots for a Marf. my worrying dilation is higher in the ascending aorta, marfs are at the root.

So to keep us all happy I am insisting on six-monthly echoes please ! .

Now if only someone would find out what this abdominal pain is I'd be right!...I have come across iliac artery aneurysms in my reading and thats seems to me to be a good match for my symptoms . Guess thats yet another Doctors speciality again....

I just wanna go home and be me again...sick of all these doctors!

 

[Marguerite53]

you are having a rough time!!

you are having a rough time!!

Hi. I think that is great that the geneticist is going to go back and learn more about BAVD. It's also great that you are back on the 6 month echo!! See, it wasn't that tough, you just have to tell them!

I'm sorry that your stomach is acting up. Could it just be all the stress? Maybe lay off the milk products, spicy foods and grease for awhile and calm down? It's hard not to want to pursue everything, but sometimes that can get you in a real tizzy. Use your own judgement,of course.

Would you explain to me what and how the eye test thing will go? Is it done by an opthalmologist? My middle child is home for the weekend, and I looked at his bare flat feet, and his gangly arms and I'm concerned about him again. I'm going to measure his wingspan! Maybe I'll talk to our eye doctor (it might be cheaper than an echo) about Marfan's. The list of distinguishing characeristics do fit this one child somewhat.

Keep us posted. Feel better!

Marguerite

 

[francie12]

Marfan Syndrome

Marfan Syndrome

Hi, Aussi and Marguerite--
We just ruled out Marfan syndrome for Matt last summer. He had some, but not quite enough, of the characteristics necessary to make a diagnosis. Whew! Have you been to the National Marfan Foundation site? www.marfan.org They have a diagnostic checklist, I think under the "About Marfan's" section. You have to have a certain number of characteristics in each of several catagories, skeletal, optical, cardio, etc. After reading that I was pretty sure Matt would not qualify, but this was confirmed later by the pediatric geneticist. This doctor, interestingly, was the only one to suggest an MRA to see the extent of the dilated area in Matt's ascending aorta. She was completely up on BAVD! We'll be doing the MRA next summer, regular echo, etc. in March.
With the eye test, they dilate the pupils to check out the lens, similar to a regular eye exam but more through. The Marfan Foundation site has all the details on it
Good luck, you guys!

 

[aussigal]

Yes francie is right...
The geneticist wants his own opthomologist to do the eye-test...and it is fairly like a regular one but they dialate the pupils with drops so they can see the outer edges of the lens because thats what he needs to see,,,This guy only lets one eye-guy do the tests here in Perth because it is a very exact science this one and he has had bad experiences with other testers not doing exactly the right kind of test he wants done.

So NO a normal eye-exam wouldnt be good enough it needs to be doen by those very experienced in looking for this lens dislocation found in Marfs.

As for the tummy,,,its been like this for a least 20 years anyway
and there are sort-of two problems there, one being what feels very much like bilateral iliac artery/vein swelling and then the general bloat and inevitable pain from food ( which is why I have really weird eating habits ) I do however believe the iliac pain is related to my BAVD because they get swollen and very tender when there is increased blood-supply in the nether-nether regions . I have read about iliac aneurysms before but of course now I cant find where...

And they still havent checked my brain yet for any more lurgies hiding there either and I wont rest easy til they do.

Mum always said they shoulda rubbed me out and drawn me again,,,lol...I think she was right!