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DublinPauline
15th April 2004, 03:16 PM
Ivan, I seem to remember that you were diagnosed with Marfan Syndrome?

I came across this website in my travels, thought I would post it here in case it is of interest: www.tallclub.co.uk/medical/marfan.asp

(Don't ask me how I landed on a Tall Person's website, all 148cm of me :-) )

ivanleg
15th April 2004, 03:49 PM
Hi Pauline
That's a decent overview of the condition. Thankfully it doesn't have any hideous pictures as I've seen on other sites.
Not sure if I was correctly diagnosed as I don't have the problem with the aorta and I still haven't had the genetic test.
Thanks for the link, now see if you can find a syndrome for everyone else here! I reckon there are as many syndromes as there are people but most of them are yet to be discovered.
Ivy
148cm? That's 58.27 inches, or getting close to 4'11"? Perfectly ok for a lady. :angel:

Vicki
15th April 2004, 06:04 PM
Apparently I have that one (http://www.whonamedit.com/synd.cfm/1319.html), though I'm not so sure about the broad-shouldered part, lol. My shoulders are annoyingly narrow if anything.

Actually that (http://www.icomm.ca/geneinfo/beals.htm)'s a better site.

Marti
16th April 2004, 05:53 AM
I just did a report on Marfan's syndrome and ended up close to convinced I have it. But I highly doubt I do. Someone would have noticed by now. I do have really long toes though... I can pick stuff up with them! :-)

I think that happens a lot, where you get convinced you have a disease. I really want to find a disease that's not really bad that explains how weird I am.

ivanleg
16th April 2004, 12:59 PM
Mmm sometimes I've thought I might have CCA instead of Marfans, or maybe even yet another variant. I've definitely got something in this area.
Interesting how most of these conditions are autosomal dominant, which means you have a 50-50 chance of passing it on.
Martha you are sooooo not Marfan-like. Like I said before, I'm sure everyone has a syndrome but most haven't been labelled yet. Let's call yours ~Marti's Syndrome~.
BTW you shouldn't say "disease" because these things aren't diseases, they're just genetic characteristics that some people have in common.

sins
16th April 2004, 01:08 PM
I really want to find a disease that's not really bad that explains how weird I am.
That sums up exactly how I feel Martha. I know I'll spend my life searching and wondering why a child's spine can curve relentlessly with no other explanation than "idiopathic scoliosis". I have pectus excavatum and abnormally high foot arches but nothing else. It bothers me that when my children ask what happened to me that I'll never be able to give them a satisfactory answer.If I had congenital scoliosis or a diagnosed syndrome I would be a lot more accepting of it.Neither do I fall into the category of adolescent idiopathic which runs in families so I'm totally at a loss as to understand why.It really gets to me that doctors treat the symptoms of a disease and never look too deeply for the cause of it.I know it's too late to ever get my condition treated but I am determined that in my lifetime I will at least learn WHY this happened to me.
Sins.

ivanleg
16th April 2004, 02:21 PM
With the progress they're making in unravelling what bits of our genes cause what 'features' I'm hoping there will be an answer for lots of people like you Sins.
But I can't see much solace in knowing exactly what, genetically speaking, caused the problem.
At the end of the day the question still is, what made me a spontaneous mutation? Religious people would say "God". As SSO Cynic I say them's the brakes.

mark
16th April 2004, 02:57 PM
I am synical where it comes to religion my god is the trees, the hills, the streams, the oceans. But thats not to say i am right if you are a believer then all power to you we all have our own gods.

But i think with all the movement in genetic research an explanation will be found and if they find they find the explanation then maybe anything can be achieved jst got to let the scientists get on with it and come up with some answers.

Marti
17th April 2004, 05:14 AM
You're right Ivy, most things are definitely synderomes, not diseases. hmmmm... Marti Syndrome. I like it! :-)

In all seriousness though, Sins, that's exactly how I feel. No one in my family has ever been diagnosed with scoliosis. I believe my dad has a slight rotation, but even if he has it he only has a tiny curve. I just felt a slight rotation when I was massaging his back one day. I hate not knowing why my spine suddenly decided to curve. That's why I wish I were diagnosed with something that explained it. It certainly wouldn't hurt if it also explained my headaches and succeptability to coughs and pneumonia.

Carly
19th April 2004, 02:53 AM
like martha i am the only one who has scoliosis in my family. Its hard cause have no idea about it....

Jessica*
19th April 2004, 06:47 AM
What I don't understand is that the only one with Scoliosis in my family (other than myself) is my Mum's Aunt. Yet mine was still Idiopathic Scoliosis, my surgeon said considered the link between my Aunt and myself as irrelevant. I don't know why though, why would he ignore a gene link?

mark
19th April 2004, 10:09 AM
I know i have kyphosis with mild scoliosis but my Gran on my mothers side and my mother both had it but it hit with a vegenance when i came along.

Jonny
20th April 2004, 11:58 PM
I have four or five relatives who have or had scoliosis... including my mum, and my aunt who had a metalless fusion in Stanmore. It's come at me from both sides of the family.

It's funny... I had both my violin teacher and my flute teacher telling me that I had Jonathan disease... I went through a patch of marking the beats by waving the instrument :s

jfkimberly
22nd April 2004, 02:01 AM
Marti: Try hypochondria. :-x

I'm just teasing! But doesn't the idea of a "self test for hypochondria" seem kind of ironic? http://www.uib.no/med/avd/med_a/gastro/wil...s/whiteley.html (http://www.uib.no/med/avd/med_a/gastro/wilhelms/whiteley.html)

-kimberly

nutmeg
22nd April 2004, 03:35 AM
I agree with you totally Sins. I hate the term "idiopathic" It's really an admission of failure by the doctors, they don't know what caused it, but they have a label to stiick on it so they can just lump us all into one big category and assume that we are the same, that our scoliosis will behave in the same way, and requires the same treatment.
If they don't know what caused it how can they be so sure that there is a common cause for idiopathic scoliosis, especially when there are so many known causes for non-idiopathic scoliosis

Jonny
22nd April 2004, 06:59 PM
do they actually believe there's a common cause? I don't think we can really talk about doctors' failures when we can't see it's any more researchable ourselves.

Jonny
23rd April 2004, 02:06 AM
although maybe not enough skill time is allocated for research

lucinda
23rd April 2004, 06:18 AM
i agree, jonny.

you know what really annoys me? when i hear of doctors just slapping the term fibromyalgia onto patients because they don't know how else to explain what the patient is going through. grrr.

nutmeg
27th April 2004, 09:04 AM
Originally posted by Jonny@Apr 23 2004, 12:59 AM
do they actually believe there's a common cause?
Maybe they don't actually believe it, but they appear to assume all adolescent onset idiopathic scolisis is the same when recommending treatment. They make predictions based on statistics, a prediction which was wildly inaccurate in my case. If they were really interested in finding out more about scoliosis they should be following up every case to see if their predictions are correct, and adjusting their ideas accordingly, not just ignoring them.

Or maybe my consultant was not typical

Meg

BlueIce
27th April 2004, 04:22 PM
if i had been good at scientific stuff, maybe i would have become a researcher and find out for myself what the cause is. But since even my math is a disaster, i'll just stick with my social work-education.

It is annoying not to know what caused your spine to curve, especially if people ask you about it. I once fell of the playground as a kid, but can hardly believe that made my spine curve.. I fell pretty hard but who doesn't when their young? So i don't think that's an explanation.

It's pretty stupid not knowing all this stuff.. Right now i feel a little dizzy in my head (like when you blow up a balloon) but is it because of my scoliosis? If i'm tired or have a headache.. where does that come from.. it's so many things you don't know about, so i hope they will soon find out...

kkk(arine)
27th April 2004, 09:54 PM
my surgeon said considered the link between my Aunt and myself as irrelevant. I don't know why though, why would he ignore a gene link?



:???: strange. maybe he just wasn't interested in finding a cause...

titch
28th April 2004, 11:05 AM
Some of them have some pretty funny ideas - like it seems to me to be a fair bet that the swan neck deformity and rotational deformity that I have of my fingers is linked in to the whole hypermobility and spinal curvature thing, but my first surgeon insisted there was no link whatsoever :twak:

delenn54
6th November 2004, 02:42 AM
Keeping It In The Family

I have marfans my sister has marfans we both get it from my father's side of the family but I'm the only one with scoliosis why?, no idea wish I knew.

Found out about the scoliosis when I was 12 way back in 1987 I remember it mainly because we were going on holiday to spain the following day I don't know sounds familiar. Had my first op in the January the following year also remember it being January 2nd as I was first to arrive on the ward after the new year. Had the op spent a few days on one of those stryker beds damn things spent 3 months off school back to normal apart from the rods in the lower part of my spine.

Age 17 June 1992 had the same procedure done to my upper spine minus time spent on that bed which suited me fine and carried on as normal. Age 21 had upper rods removed because wires were coming loose and fluid was starting to collect which was thought to be the cause of the severe pain I was having at the time.

Now age 29 still have the same pain and a rib hump that I've learnt to live with but have recently found out about thoracoplasty surgery but all cases I've read about are of people who have idiopathic scoliosis and are otherwise healthy as there is some concern whether my heart and lungs are strong enough because of the marfans. Anyone had this done?. This is probably not one of your usual posts for this site but I need to find some answers as I'm waiting for an appointment that might decide whether I can have the surgery or not and maybe I'll find out why it was never offered to me in the first place before anyone asks that one I don't know, my fiance doesn't know, no one seems to know.

Debbie

Marti
6th November 2004, 05:02 AM
Hey Debbie! I'm sorry to say I can't really offer much advice, as my scoliosis is a typical adolescent idiopathic case. But I would like to say WELCOME! And I hope someone else here can help you. Many people have had thoracoplasties and some people here have non idiopathic scoliosis. Hope you get your answer. And Welcome!

titch
6th November 2004, 12:11 PM
Hi Debbie,

:welcome2: :D

I think I can probably give some idea on the thoracoplasty not being offered, which is that it seems to me that it's only recently that it's started being done as a much more routine thing. There have been several prominent doctors, in particular Dr Serena Hu of UCSF, supporting the idea that to merely fuse isn't necessarily enough, that you should always aim for absolutely the best cosmetic correction possible in any given case. While it seems daft, even now a surprising number of doctors just don't seem to think that way, they're so caught up just in stopping the curve that they regard cosmesis as secondary at best. So although thoracoplasty was possible back then, and was done at times, it really wasn't common.

I don't know how much the Marfan is likely to restrict the possibility of having it done now - if you're regularly monitored and don't have the aortic problems, it may not be an especially big issue, although it may be that you'll need to get more than one opinion before finding a surgeon who feels confident to do it, because a lot comes down to the whole team, whether the hospital and particularly the anaesthetist have the skills to deal with it, and that is something that can vary from one hospital to the next.

Again, welcome to the site :-)

Becky
6th November 2004, 01:37 PM
i had never heard of or knew anyone with scoliosis before i was diagnosed (sp?) with it!! its was all completely new to me, but ill be sure to check my children reguly, when i have them!!

ivanleg
6th November 2004, 03:46 PM
Hi Debbie
I was diagnosed with Marfans. If you don't have any problem with your aorta (many Marfans people do) and your lung function is ok (easy to get tested) then I can't see why a thoracoplasty would be a problem.
I haven't had any back surgery myself so you will be struggling to find anyone here with experience of that unique combination: "Marfan + thoracoplasty".
There are lots of useful Marfan sites, I reckon you could get an answer if you subscribed and posted on one of these mailing lists:
http://www.marfan-list.org/
or
http://health.groups.yahoo.com/group/Marfan_Syndrome/
Good luck!

delenn54
6th November 2004, 04:33 PM
Hi All

Thanks for the welcome to the site I wasn't expecting replies so soon!. Thanks Ivanleg I'll look up those sites next and to answer titch I'm waiting to be referred back to the surgeon who did my third op as when I requested an appointment with him I got one with a newer consultant which I thought was a bonus but it turned out he trained under my old surgeon and was in fact one of the many medical students I'd come across as he was so eager to point out when we first met but how am I supposed to remember them all?!.

When I hit him with the thoracoplasty he admitted to not having the experience and that it was technically possible but it was purely cosmesis and that the ribs could still grow back crooked and cause more pain on top of the pain of the procedure, pain?, I could write a book on it!. If the result was worth it I'd put up with a bit extra. As for my heart yes I get yearly scans and had one back in September and though they had trouble getting an exact measurement of my aorta they seemed satisified with the result. All I want to happen is have what ever tests that would prove whether I'm strong enough or not for the procedure if they prove I'm not then fine I'll let the matter drop but at least then I'd know and more importantly know why as that always seems to be the question on everyone's lips isn't it?.

tonibunny
6th November 2004, 08:24 PM
Welcome Debbie! :welcome:

It is actually very very unusual for ribs to return to their original crooked state following a costoplasty/thoracoplasty. This is because the "sleeve" of muscle which grows around the rib is shortened during the operation, so when the rib grows back, it just follows this sleeve as it grows. It *is* mainly a cosmetic procedure, but it's hardly vanity to want to look a bit more normal. I've had three costoplasties with brilliant results - check out the 'thoracoplasty - now or later' thread and you'll see photos of my back before and after. It's obvious that your surgeon hasn't got experience with this procedure, but that doesn't mean that it would be difficult to find someone who can do it :-)

jfkimberly
6th November 2004, 11:06 PM
Hi Debbie. Welcome to SSO.

Whether or not you're suitable for surgery is a question to ask your cardiologist and pulmonologist (be sure they understand what impact the procedure will have on your lung capacity). As Ivan said, if you don't already have lung problems or reduced lung capacity, I don't see why you couldn't have a thoracoplasty to improve your appearance.

Amazed Jean
6th November 2004, 11:18 PM
Debbie Welcome to the site. You can learn a lot here and more important you can rely on this group to give you support no matter what!

Joy
7th November 2004, 05:52 AM
Welcome to SSO Debbie. There are lots of people here who have had thoracoplasties.

I think most of you know this already, but I have NF ( http://www.nf.org ) so my scoliosis isn't considered idiopathic. But really, I don't think it's much of an explaination at all. I mean, why did I get scoliosis and not my mom? There are so many different symptoms of most genetic syndromes and they don't reall have an answer as to why one person has such a different set of problems than another with the same genetic condition. Anyway. I haven't found that knowing about NF take away the wondering.

On the plus side, it's (NF and scoliosis) have really made me think about what I want in life. I used to want a family, but now I'm not sure that I should have kids at all. There's a 50/50 chance that any chidren I have will have NF. And even if 60% of NF patients suffer only mild symptoms, that means the 40% have more problems. Why would I risk that for my children? Just something I've thought about... do keep in mind that I'm only 15, won't you?