I feel like talking about Marfan and how SH*T it all is

[marfanregular]

Anyone else out there suffering from Marfan?

I've lived with it for more than 20 years and I'm only just coming to terms with all the sh*t it's caused in my life.

I feel the need to share with someone... Anyone want to join in a therapeutic and anonymous complain-and-get-it-all-off-your-(pigeon)-chest session?

Marmadukescarlet - I am sorry to hear your story/history, has your ds had a blood test for marfan? Even through all the research I had carried out on marfan, it was by pure chance that I discovered that there is actually a simple blood test. BTW i saw that episode of Holby City too - I had phoned my Mum and said "that man has Marfans" before the Dr's on the programme had!!
As I mentioned earlier I am currently organising the fun day with half of the proceeds going to Marfans because I feel sooo strongly that not enough people (including Dr's) have even heard of it - and even if it turns out that DH or my dc's don't have Marfans I still feel that awareness should be raised

Mummy2 no he hasn't, mainly because they will only test him for things he has a 'marker' for otherwise (so they tell me) it is needle in a haystack. eg he has bilateral single palmer creases, hypotonia (low muscle tone) and hypertolerism (amongst many other things) so he has been tested for a few syndromes that have those clinical symptoms.

He does have an odd shaped chest/rib cage, neither very in or out but very flared ribs and a bit of a depressed breastbone, but this could just be down to hypotonia.

What are other visable clinical signs? Obv if the Consultant wants to see a pic of your DH there must be a 'face' attached to Marfans as there is for many other syndromes.

Is it mostly (apart from the serious health aspects) just being tall? My Father was 6'1", but I am only 5'6" and DS was 75th centile but has dropped back to 50th.

My brother has been tested for this.

He's tall, and lanky - extra long digits. His heart scan came back as okay.

He's had loads of problems with hyperflexive joints and has had repeated dislocations - particularly his shoulder.

His eyesight is okay.

marmaduke other outward signs could be tall and slender with an elongated face (although there are people with marfan who are just 5ft tall), Being flat footed, having a cleft pallet, Long fingers and toes (and my own research seems to suggest that tall people with marfan have small feet for the height IYSWIM - DH was 6ft 2 but only a size 8) sometimes poor eyesight and the tendancy to tire easily and of course the chest thing that you have mentioned - either pidgeon chest or concave? Umm there are probably more but will need to think, it's been a long day

My ds is 3.7 and is already 115cm, which is the height of a 5/6yr old ... I conducted a MN poll the other day, most children of his age are about 103cm and they were the ones whos parents say are the tallest in their nursery etc

The biggie that always gets me thinking marfan's is the arms and wrists - in marfan's the span of the arms is longer by a good way than the person is tall and the knuckle bones on the wrist seem further up than they ought to be -gives a kind of 'daddy long legs' appearance IYKWIM.
VVV, it sounds like your brother has Ehlers danloss hypermobility type - being'marfanoid' is a classic symptom - the arm span ratio is not as high as marfan's proper, and there's no heart defects , just the hypermobility,boingy skin and a slightly gawky appearance, high arched feet and again the wierdly elongated looking wrists (I've just described myself BTW -if my BMI drops below 25,it gets really obvious and i look like I'm composed of knees and elbows lol)

LOL jamila.

He does have the wide armspan thing.

Hiya marfanregular!

Am I allowed to say that marfans is shit too? Dh gave us all a scare last month when he nearly died during an op to save his sight. He's exhausted, but says he has got to go back to work next week no matter what.

Dd has has her "determined" head on today, and insisted on walking to school even though she knew she'd be knackered when she got there.

If you're anything like us, the day to day stuff goes on as usual. Then it all seems to go haywire at once, almost like it's reminding us that it's there (blimey, that sounds paranoid!)

Have a look here for marfan stuff, there's usually someone on there with first hand experience that you can talk to.

Crikey! Just googled ehlers danloss.....I have the bruising and skin thing. I do NOT however have the lanky, gawky appearance I'm the only one in my family who doesnt. Short-ish and stocky! My brothers are all under 11 stone and over 6ft At 5ft 6 they tower over me!

Height isn't always a reliable sign either way iykwim, as Mummy2T&F has said.
I know people with EDS and Marfans that are just over 5ft tall. I also know people that have been tested and have turned out to be OK when they've been well over 6ft, when I'd have bet money on them having it going on how they looked.

For Marfans, hypercrowded teeth, stretch marks, and a high arched palate are other possible pointers. Google for the Beighton (or is it Brighton now?) hypermobility scale to check for this aspect of connective tissue disorders. There is a marfan "look", as I have seen pictures of other people with marfans and thought how much they look like my dh and dd.

marmaduke - there are a few atypical collagen disorders that do present with Hypertelorism and heart problems (aortic regurgitation being one of them) and even though a lot of the features are common to all of them, there's not really connections being made.I've worked with two young men, one worse than the other who had similar probelms to your DS, they were both SN (not surprising as that was my profession) but both had the very stretchy skin,hypermobility, hypertelorism, heart issues ,spindly fingers and toes (but very flat feet)plus eyesight problems,reverse epicanthic folds,single palmar crease,curly hair(no curlytops in the families)and many other pick and mix anomalies -neither had all the features of any named syndrome or disorder, so it was impossible to but a name to it - we called it 'dave syndrome' because they both had the same name, and we were always being asked by new social workers etc for a diagnosis!

VVV - I don't look skinny unless I go into normal BMI territory,and the ridiculously large bosom hides my pigeon chest lol - the only odd thing people notice about me is that i appear to be wearing my watch halfway up my forearm, because it sits abuot 3 inches away from my hand -that and the fact that all my sleeves end up looking like 3/4 length and I've never found trousers that fit me in the body and go past my ankles

Yes my Dh was 6ft 2 and 10stone 4lbs, he ate like a horse aswell, he had stretchmarks and had 13 teeth taken out when he was younger because of overcrowded mouth. My mum always commented on his wrists aswell (for 13yrs!!) she always said they didn't "look" right to her. We never measured his armspan but I would say that it was more than his height

Marfanregular - they do pre genetic testing here in Belgium for marfan's. I know two healthy children born because of it.

Morning everyone and thanks for so many replies! I had to go yesterday so sorry not to have replied earlier. Am now at work so won't sit and reply at length... but will be back later on. Glad to hear there are others out there but sorry at the same time that Marfan is so prevalent

Just sending lots of hugs.

Dd (who has HMS/EDS) was tested for Marfan's (but negative) so I went through a period of reading up too.

Is there not a support forum for Marfan sufferers? There is for people with HMS- I think that has a Marfan's section too. Might be useful for picking up tips on how to access services/bully consultants etc. Sadly, having being called neurotic almost seems to be one of the diagnostic symptoms of a connective tissue disorder.

can I join in...........waves to Mummy2tandf and to Marmadukescarlett.

My stepfather died of an aortic anuerisim aged 36 5 days before Christmas in 1979. Nobody had any idea what was the problem but now most of the fmaily have been tested for it.

My half brother ( who is a doctor himself now ) has it and is regularyy looked after by I think Dr Childs ( is she at St Mary's Paddington ? ). He takes beta blockers and is not supposed to play Rugby or lift anything heavy but apart form that he lives a normal life and has in fact just had a beautiful baby daughter.

Marfans is easily mis diagnose I feel and affects a lot more of us than we think.........for instance looking at Barry Manilow I would say he is a suffere albeit in perhaps a mild form!

My bil has marfans and his sister and brother, his dad died young and was ill for a long time. He is not too severe and lives a healthy happy life and doesn't talk about his marfans much but I know it has had a big impact on his life.
He has 3 children with various long limbs and funny narrow feet which is hard for them sometimes but it's okay.

Barry Manilow? Ooh, I never thought of him. Maybe I was distracted by the nose...

I hope you're feeling OK today, marfanregular?

Hello mp Gosh your stepfather was young, how sad for you and your family.

Belgo that may be because there is a team of genetic conective tissue specialists based at Ghent University Hospital. They are currently testing some blood and DNA of my DS for Arterial Tortuosity Syndrome (he has arterial tortuosity around his brain)

jamilai169 My Ds also has SN, epicanthic folds, flat feet, metatarsus adductus (like mild club foot? In fact he has gone back into leg casts this morning ) odd shaped head with frontal bossing (lumpy forehead) nipples to far apart, vagus knees (legs that bend outwards sideways from the knee), Patent ductal arteriosis, he has very gappy teeth and a high palate to name but a few oddities.

Mummy2 my Father was less than 11 stone and ate constantly! He had all his teeth removed when he was 30 (it was a long time ago) and had false teeth.

I'm sorry that this affects so many people, it must be really hard for the DCs who have it.

Hi Marfanregular
My good friends are a 'marfans family'. The dad is a sufferer and has the classic symptoms you describe (very tall and lanky, long hands/fingers/wrist joints, poor eyesight etc and has had several ops on his aorta). They have 2 sons, the eldest has marfans too and at 11 he was my height (5'7). They are a lovely family and cope brilliantly with it all ... the dad is an architect and they basically built their own house incorporating all the things he needed (tall doorways, huge shower cubicles etc, tall ceilings etc). I think they cope very well but I know the mum has a constant worry about her eldest boy (and also tends to 'molly coddle' the youngest a bit to make up for the attention given to the oldest with all his hospital check ups etc).
If you like I can put you in touch with them somehow ... I won't direct her to MN cos she may start poking around in my posts iyswim?
xxx

that's interesting Maramaduke. Belgium does have some excellent university hospitals.

Ah, crowded teeth and high pallette also prevalent in both my brother and slightly so in I.

gosh Marmaduke, he does seem like another of the pick and mix types doesn't he? I know the Daves had feet that were very pronated, as well as flat(cornish pasty feet lol!) dave one would put his shoes on the wrong feet because it was more comfy. they both had the frontal bossing and very velvety skin. Dave #1 had a domed skull and valgus knees, Dave #2 was less extreme and had varus knees.

Hi everyone and sorry for taking so long to get back to you all. I was having a bit of a downer on Tuesday (had you noticed?) so needed to get it all off my (pigeon/concave)chest Thanks for all your replies, they really helped.

I never realized there were so many Marfan-related / Marfan-like syndromes . Am I right in thinking that most of us/you actually aren?t affected yourselves but do have children and a DH with something? Funny that fewer women seem to have it. (says MR after an obviously thorough statistical analysis of the UK population ).

I shall add to my symptom list :
High palate: tick
Crowded teeth: tick
Long thin face: tick
Long wrist joints: tick (which I?d never thought about but which is completely correct)

Martianbishop I know it?s not a competition but what you?re going through right now is a LOT worse than what I have to put up with, so big sympathy and love to you back!

Mummy2TandF Have you had your appointment date through yet? If you can bear it, then it might really be worth taking some photos along of your DH to Dr Child, as there IS a certain Marfan ?look?, as Marmaduke wondered. Think Abraham Lincoln: long face, fairly flat cheekbones, narrow jaw (which will explain all your DH?s extra (?supernumerary? iirc) teeth), slightly bulgy eyes (God we?re attractive )? I wonder whether this fits the bill. I don?t quite understand why the coroner can?t give a diagnosis of Marfan (AND whatever the real reason was ) even if he didn?t die of an aneurysm?

Deepbreath yes of course you can say how sh*t it is. The more the merrier iyswim . How awful that DH?s operation nearly went so badly wrong. Have I got it right that your DH and DD have it, but that you don?t (but still have to deal with it on a daily basis, obviously?)? Yep, the day to day stuff trundles along as usual and then suddenly WHAM you get reminded of Marfan by something or other going wrong. We?re not allowed to forget it . Thanks for the link. I?ll go and have a look there, as having a whinge about your symptoms isn?t really the done thing here on MN, I fear!!

Jamila What are epicanthic folds? I?ve not heard of these before. I had to smile about your watch-halfway-up-your-forearm comment, as that?s exactly how mine looks if I don?t leave it hanging loose! Clothes for tall women is a new thread topic entirely ? there was someone earlier this week complaining that there was nothing for petite women in the shops, but as many people pointed out, at least if you?re smaller you can take things up! I assume you know about Long Tall Sally (www.longtallsally.co.uk)?

Mummypoppins Welcome So sorry to hear you went through the same as me with your stepfather. Dr Child is mainly based at St George?s Tooting, but perhaps she does a clinic at St Mary?s, too? Barry Manilow? now there?s someone I?d never considered as being a Marfan. I think Marfans have much better taste and style, personally, which rules him out

Rosylily Interesting that your BIL doesn?t really talk about it much. Neither do I, and I think that?s part of the problem. You don?t want to be seen lumbering people with your problems (which they can?t do anything about anyway) but talking about something which affects your life so deeply can only be good for you. That said, this is only something I?ve come round to in the last few months. In the past we as a family avoided the whole ?woe is me? side of things like the plague, to an unhealthy extent the other way. I now have some lost time to make up for, I think!

Marmaduke Gosh it sounds as if your DS has a lot of symptoms to think about . How old is he? And am I right in thinking you yourself have Marfan, too, or not?

Ghosty I am very much liking that idea of a self-built house for tall people!! I would start with: nice and high kitchen top, massively tall ironing board, high loo and basin, high shower doors? tall ceilings are a must (we live in an old house and I couldn?t survive in a modern house with such low ceilings). Thank you for the offer to put me in touch with your friends but I think I may politely decline ? if I want a serious RL whinge then I?ll just ring my sister (also Marfan) But thank you, it was very kind of you.

Oh yes, another one:

Flat feet: tick

Have a good weekend everyone.