MARFAN SYNDROME

[MUM23ASD]

Every time i hear/read about it- i think of ds1 (age 14)

he is tall- hypermobile joints- broken several bones in his 14 years.

His fingers are very long and not straight- his toes are long and well separated.

latest was scapthoid in thumb- which they said was unusual with his age- and have asked to see him for a checkup 6 months after coming out of plaster- this appt is this month- and i want to directly ask about MARFAN without sounding like i have MUNCHEUSENS.

if measured arms outstretched- fingertip to fingertip- it measures more than his height by 10cm!!!!

he can close his hand so his thumb wraps right under his palm and grasps round little finger.

and i his right side of his rib cage is protruding more than it did before.

he has ADHD and Aspergers

I expect you have already seen the website for the Marfan Association.
If you suspect he may have it you must discuss the possibility with your doctor especially with the link with heart problems.
Good luck.

thanks lilymaid.

my mum is pigeon chested.

i have astigmatism

ds3 is very short sighted.

all 3 of us have crowded teeth- high roof of mouth-

He has his blood pressure checked every 6 months for the meds he is on- done by paed. Is it possible she would find that normal- yet still have it...or does the heart prob ALWAYS happen? (i ask this cos it says on that website that not all symptoms are abvious?)

I just feel silly that IF there is a problem- that I should have done something sooner- as i noticed his rib cage/chest 'odd shape' a couple of years ago- meantioned it to paed...

going right back to baby days....and i cannot rememmber which of my 3 boys.... but one of thwm i remember having a tiny 'protrusion' in lower ribs that showed when breathing in...think it was ds1.

Sorry, I don't know any more about Marfan except that there was a Radio 4 appeal for the association last week given by the wife of John Tavener (the composer) who had the syndrome.
Hope this bumps for you!

Seems completely sensible to me based on how you describe him that you broach the possibility of Marfan's at his next follow up appointment.

It often doesn't get diagnosed until teenage years.

I'm sure you won't sound like a Munchausen's mum, just understanbably concerned.

there was a thread about Marfan some time ago - maybe someone will find it ?

I was thinking of this thread.

Or here.

....if you suspect Marfans, then I would be frank with your GP and demand a referral to the paediatric cardiologists.

....it may not be. But they would find such a direct request nigh impossible to refuse. They might sigh, tut or raise eyebrows but who cares! If there is no evidence of dissection or similar then you are reassured, and even if it is Marfans the other manifestations are all much less frightening!

I think requesting is far more polite and less hostile than demanding. I tend not to decline either method, but most GPs appreciate some civility and reciprocal respect at work.

retiredgoth

That approach is likely to come accross as rather bizzare to the GP.
Depending on how services are organised where MUM23ASD lives paediatric cardiology may not even be right place to refer to. In the area where I am genetics see these cases, confirm the diagnosis and orgnaise onward referral if needed.

Besides, it sounds as though the OP's ds is already under the care of orthos who could make an initial assessment and suggest more appropriate further investigation.

Also an absence of cardiac problems now wouldn't indicate no marfans. Problems with the aorta etc could occur much later in life. It's worth remembering too that even if the Gp refers you the consuktant doesn't have to accept the referral. They could advice the Gp refer on to a colleague, write direct to you....it's not as simple as retiredgoth1 made it sound.

thanks all-

Liliymaid...It was that radio4 appeal that caught my attention!!!

Emma1977- he has his "scathoid" 6monthly followup in 2 weeks... at the fracture clinic.... would they be the appropriate people to refer him? or at least examine him???would my best approach be if i described his symptoms and let DS show his chest/hands/fingers etc...and not even imply i know anything about Marfans... or do i admit my concerns for Marfan investigation?

Also...would significant weight loss be relevant...he's 15 in a month- and upto age 13 he was growing consistently on the 75th centile for height and weight....since birth (despite taking methylphenidate since age 7)

then almost overnight i noticed his shoulder area became very boney - then i later noted his left side of chest protruded- and i decided to wigh him. He weighed less than he weighed at age 13...not sure of exact weight.

he sees a paed 6 monthy for adhd medication reviews- so she has checked blood pressure- and a year or so ago he had a blood test.

6 weeks ago we saw her last- and she was concerned about his weight... but as i was not 'marfan aware' then...i did not mention any of the above concerns in any real depth .... but she reduced his methylphenidate from 54mg daily- to 27mg...and requested she see him in 4 months not 6.....

so i am hopeful, she has noticed more than she wants to worry me about....

He also has a ganglian on his hand- is that connected???

My muncheusans fear is REAL... as i have OCD and am fearful that noone believes me. However.... looking at ds1... it is not 'in my head'...it is not 'attention seeking behaviour on my part'..... he has physically visable signs.

I'm just very anxious that i approach the medical proffesionals correctly, to be take seriously- as i have 3 boys...all diagnosed with Aspergers syndrome- and 2 of the 3 i had to push to be listened to... so i am fearful that professionals will see me coming and think that i 'just want to be right again'...thats where the munchheusans comes in.

I have a CPN, but she is about to go on maternity leave- otherwise i could ask her to accompany me to see GP etc...as my advocat! To prove that i do have valid concerns...as i don't trust myself to be believable!

(maybe i should print off tghis thread for the GP to read!!!!!)

p.s i am in BATH health authority area.... so if anyone on here is local-- maybe point me in the right direction.

Ok, firstly Munchausen's is where as person fabricates illness for attention or other gain. Munchausen's by proxy is where someone fabricates illness in a third party (usually a child). You don't have either. Your children have obviously had their fair share of real problems and you are an understandably concerned mum. Your anxiety may make it more difficult for you to be rational at times, but that again is understandable and allowed! Don't let fear of what other people may think of you put you off discussing matters which are obviously troubling you.

Now, what to do...

The problem with fracture clinic is that it can be a bit of a conveyor belt, and you may not get much time to see the doctor (or you may not even see a doctor) and even then they may only have time to discuss the fracture. If you do, then by all means mention your concerns about the possibility of Marfan's. They may be able to examine him there and then or arrange for him to be more fully examined in an orthopaedic clinic. If not, then ask them how best to proceed- whether you should take him to see your GP and which speciality would be best suited for a referral.

As for the other bits and pieces. The ganglion isn't relevant and not a cause for concern. The weight loss (or plateauing) isn't uncommon when teenagers go through a vertical growth spurt. He is also taking a drug which is a powerful appetite suppressant and may be contributing to this problem.

Either way, if you feel you want to get the ball rolling sooner than fracture clinic, take him along to see your GP. They may be able to arrange a few tests to look into the weight loss and can weigh, measure and examine him properly. I have seen one teenager at my practice diagnosed with Marfan's last year, which was only picked up after a hunch by the parents and GP that something wasn't quite right. Follow your instincts to get it looked into.

Good luck.

Thankyou so much emma!

Thankyou for such a detailed reply!

My head is spinning with what is best to do- but i think the route that is 'easiest' for me- is to mention it at the fracture clinic...

DH's mum died 2 days ago- and i am trying to support DH...and keep homelife running as usual as the boys don't like their boat being rocked.... they expect their life to go on as always...

so to add extra appointments and phonecalls into the next week is stressing me- if we did not have the fracture review, i would have no choice.

i do go out, but it is hard due to my OCD....so i try to compact as much into '1 day out a week' as i can....

I'll let you know the outcome

Sorry to hear about DH's mum.

Your plan sounds sensible to me. Hope all goes OK.