Marfan Syndrome Support forum

My first visit to the GP for my daughter and myself today...

Pixi — 10:59 am, Sun 20 May, 2012

Author: Pixi

Posted: 10:59 am, Sun 20 May, 2012

Hi Sara and welcome to the forum.

Going by your description and the photos, it does look like your daughter has Marfans.

Sara wrote:

Its my daughter i am concerned for as she has some disabilities from being born 3 months early as it is. For a while now she has been unhappy with her fingers and she is at an age where she is becoming very concious of herself. She starts secondary school this year. Its a massive step for her because we didnt think she would ever get this far.
There are no signs that she has any heart problems and as a prem baby i wondered if anything would have been evident when she was in special care, surely they would have spotted something...but also, she was still not fully developed so who knows.

The heart issues in a prem baby are different to that of someone with a connective tissue disorder (CTD). The doctors at the time would have been checking for holes and under developed valves. With Marfan's it is usually the aorta that is an issue and that can take years to become a problem. The average age for aorta problems in Marfans is 18. Though it is known in some younger children. If she was floppy as a baby, they would have assumed that was because of her prematurity. Does she have Cerebral palsy? In CP it is possible to have floppy uncontrollable muscles and hypermobile joints. Which would be another reason a CTD would not have been picked up.

Sara wrote:

have recently had lumbar surgery and now have some nerve damage.I have a numb foot and toes on both feet go blue and very cold. My fingers and hands are numb when i wake up and my fingertips are always tingling. Maybe its because i am getitng older.

Did you have this numbness and blueness in your toes pre lumbar surgery or is it a new symptom? It could be as Cheeky suggested above. Or it could be related to the nerve damage. Both your breathlessness and these symptoms need checking by a specialist. It is good that you have a decent doctor who listens. They are very hard to find.

Wrist pain

cheeky — 4:36 pm, Tue 15 May, 2012

Author: cheeky

Posted: 4:36 pm, Tue 15 May, 2012

Thanks everyone

Darren I want to be a consultant for health professionals for health law. Law is so amazing you can do anything with it. It just shows you can learn. Its not a restrictive subject lol. More people are leaving law work for other professions as they find that more interesting. Everyone I know has become teachers.

Thanks again
Bec

Neuralgia

cheeky — 10:03 pm, Mon 14 May, 2012

Author: cheeky

Posted: 10:03 pm, Mon 14 May, 2012

Good luck I am thinking of you

How long can you live without treatment

bobert1989 — 12:14 pm, Sun 13 May, 2012

Author: bobert1989

Posted: 12:14 pm, Sun 13 May, 2012

Yeah I will do, I'll be booking at appointment on the 18th.

It says the left ventricle thickness is normal as well so hopefully it's all good. Thanks.

Marfan heart

Pixi — 3:10 pm, Thu 10 May, 2012

Author: Pixi

Posted: 3:10 pm, Thu 10 May, 2012

Marfan skeletal

Darren — 9:42 am, Wed 09 May, 2012

Author: Darren

Posted: 9:42 am, Wed 09 May, 2012

Thanks for this Pixi, I can see it being very useful.

Mick from Singapore

speedwell — 7:16 pm, Tue 08 May, 2012

Author: speedwell

Posted: 7:16 pm, Tue 08 May, 2012

Hi and welcome

the only thing I could add is perhaps caution re genetic testing being the ultimate goal.

It is possible to have a definite positive Marfan diagnosis ( where the latest criteria are met) and for the FBN (fibrullin genes) in the genetic screening to come back negative.

I know because I do.
The genetic research of my family is still an ongoing thing.

I think whether one meets the criteria, and how the condition affects you on a daily basis are more important. Every one is different and every one has different aspects in different amounts.
We all just have to get to know our own realistic limitations (which may change at different ages).

best wishes
speedwell

Marfan eye

Pixi — 5:45 pm, Tue 08 May, 2012

Author: Pixi

Posted: 5:45 pm, Tue 08 May, 2012

Eye Symptoms
-subluxation of the lens
-short sightedness

As for the eye, the normal anatomy shows that the lens is held by small bodied muscles called ciliary muscles and the iris surrounds it and control the widening or contraction of the pupils. These tissues contain, yet again, muscles and elastic bodies to allow such properties to occur. Marfan's which is a connective tissue disease (connective tissue as its name implies means a certain substance that connects the tissues together) causes laxity of the matrix of the connective tissues (glycoproteins) are not properly arranged and hence they are not as strong as the normal muscles.

The muscles hold the lens in position and keep it in check, but under such weak conditions, the lens will tend to protrude out or off its normal position hence causing complication such as that above - subluxation of the lens, and also short sightedness (the reasons are the same)

In this picture, concentrate on the lens, the oval rounded shaped structure (it is labelled) and look at it's attachment to the iris and ciliary body (muscle)... if the muscles were weak, the lens would not be held in check and would loosen out

Just popped by to have a look and say hello :)

cheeky — 10:43 pm, Mon 07 May, 2012

Author: cheeky

Posted: 10:43 pm, Mon 07 May, 2012

I hope you get that important diagnosis soon. Its so great to see you can do some sport I hope you keep that going.

Coffee & Computers

Rachel — 8:27 pm, Sun 06 May, 2012

Author: Rachel

Posted: 8:27 pm, Sun 06 May, 2012

Hi Brianz,

I agree with the others in that the old presumption no longer stands re Marfan physical characteristics. However, the new diagnostic criteria as defined in the Ghent 2010 guidelines you need to either have both eye and aortic issues present if physical symptoms aren't, or either of these with a number of physical characteristics.

Depending on any physical characteristics you have depends on your diagnosis. Hopefully your new Marfan specialist will help give you a clear picture and plan any necessary treatment/follow ups. Here is a list of related conditions and their crossover with Marfan.

I hope for your piece of mind you get closure soon. Oh re caffeine, if I couldn't drink caffeinated Tea Id be locked up at this point!!!! Computer work? Overuse not good for anyone, but as my eyes aren't affected with lense dislocation (I have Loeys-Dietz Syndrome - www.loeysdietz.org) I can say if it has effect in that respect but I don't believe so.

Take care!

Loeys-Dietz Syndrome Conference with speaker Dr. Dietz

Rachel — 10:08 pm, Thu 03 May, 2012

Author: Rachel

Posted: 10:08 pm, Thu 03 May, 2012

odd, but never saw this! thanks for posting!!

Hey all!

Bluenose — 2:02 pm, Tue 01 May, 2012

Author: Bluenose

Posted: 2:02 pm, Tue 01 May, 2012

Hi Melissa

I would also like to welcome you back.
I have some skills but giving advice to people is not really one of them.

I would just like to say that you come across as intelligent and articulate. Your English is excellent and you can express yourself very well on this forum. I really do envy you that you can speak two languages.

Its natural for you to have image issues particularly at your age but as you get older you will realize as you are begining to realize now that it is the other things in a person that matter like kindness and understanding.

Sadly people and especially young people can be cruel sometimes but you just have to try and rise above and ignore them if you can.

I hope your studies and health remain good and you continue to enjoy time with your family and friends.

The straight dope - Why advocates say marijuana should...

Darren — 12:00 pm, Tue 01 May, 2012

Author: Darren

Posted: 12:00 pm, Tue 01 May, 2012

Bec, thats just discrimination. I would contact your local Local Education Authority and complain to them.

Computer desk foot rests

Pixi — 7:41 pm, Sun 29 Apr, 2012

Author: Pixi

Posted: 7:41 pm, Sun 29 Apr, 2012

Make it something too heavy to move.

The influence of footwear on flat feet

Pixi — 12:08 pm, Sun 29 Apr, 2012

Author: Pixi

Posted: 12:08 pm, Sun 29 Apr, 2012

That's good. But I bet they are very expensive

Chronic pain a growing problem, health summit hears Read

cheeky — 12:15 pm, Sat 28 Apr, 2012

Author: cheeky

Posted: 12:15 pm, Sat 28 Apr, 2012

I cant get through a day with out morphine. People think im stupid but it helps and I can actually do something. Its wrong people have to live without any help but its great to see something being done about it.

Hurt my tailbone

WildThing — 12:34 pm, Fri 27 Apr, 2012

Author: WildThing

Posted: 12:34 pm, Fri 27 Apr, 2012

I've had 2 GPs look at it now nad both said 'you've injured it' lol. Well I know that. They said though that tail bones are rarely x rayed these days and that surgeons rarely do anything about them. I've been given Inbrothingy to rub on it, like a gel and it seems slightly better today although watch ths space it might not stay that way.

Been away, back with update

WildThing — 12:30 pm, Fri 27 Apr, 2012

Author: WildThing

Posted: 12:30 pm, Fri 27 Apr, 2012

Pixi wrote:

Thanks Darren. I just put it down to lack of interest or simply no one knew what to reply. I wasn't offended by the lack of replies.

Those sickess bands are a bit expensive. But I just checked ebay and they have some good deal click for link

I wasn't either Pixi I was just joking

Anyway back to the point...I'm back and thanks for the welcome guys and the support

Might try those anti sickness bands thanks darren, never thought of that! They are pretty cheap in Boots I think, I've seen them there.

New to the forum

Darren — 3:01 pm, Thu 26 Apr, 2012

Author: Darren

Posted: 3:01 pm, Thu 26 Apr, 2012

welcome Rob to the forum.

Hello from Birmingham (UK)!

Rachel — 10:30 pm, Wed 25 Apr, 2012

Author: Rachel

Posted: 10:30 pm, Wed 25 Apr, 2012

Hello and sorry about the delayed welcome.