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Original poster

Marfan syndrome

16 replies

MaybeMarfan · 14/07/2021 16:12

DS had a small op today, and they called me to ask if he has been assessed for Marfan syndrome.

Is there anyone here with experience of Marfans?

My only reference is Google, and that episode of Greys Anatomy!

OP posts:
WaltzingToWalsingham · 14/07/2021 19:12

Bumping for you, OP. I'm in a similar situation.

Original poster
MaybeMarfan · 14/07/2021 19:28

Thank you

OP posts:
LadyPoison · 15/07/2021 19:26

I was assessed for it many years ago as I have some of the key characteristics.

The consensus amongst the multiple specialists I saw was that I don't!

Original poster
MaybeMarfan · 15/07/2021 20:15

@LadyPoison

I was assessed for it many years ago as I have some of the key characteristics.

The consensus amongst the multiple specialists I saw was that I don't!

If its not too personal, what were the characteristics you had (feel free not to answer for any reason at all)
OP posts:
66babe · 15/07/2021 20:26

I think the characteristics are long slim limbs .. large hands and feet .. not much facial fat ?

66babe · 15/07/2021 20:30

Oh and overcrowding in the mouth
Too many teeth .. and heart problems

Original poster
MaybeMarfan · 15/07/2021 20:39

He's quite tall, very thin, long fingers, also has stretch marks on his back.

OP posts:
Original poster
MaybeMarfan · 15/07/2021 20:39

@66babe

Oh and overcrowding in the mouth Too many teeth .. and heart problems
Oh fuck!!! He was having teeth removed as too many!!!
OP posts:
LadyPoison · 15/07/2021 20:44

For me it was general lanky build, tall, abnormally stretchy skin and hyper extension of the thumb joints. These are the obvious visual indicators.

The collagen abnormality can cause eye and heart problems and aortic aneurysm. The last is the real danger.

FWIW I have small hands and feet and the normal number of teeth

66babe · 15/07/2021 20:54

@MaybeMarfan ... it's a blood test , don't tie yourself in knots before you have a definitive answer
When I was waiting to be discharged with my baby no 2 , the Dr took one look in the plastic crib thing and asked if I'd had a test for Down's syndrome , she saw my face but said nothing

If there is a suspicion then a blood test and some genetic family testing will be done and the appropriate care given

All the best lovely 💐

Original poster
MaybeMarfan · 15/07/2021 20:57

[quote 66babe]@MaybeMarfan ... it's a blood test , don't tie yourself in knots before you have a definitive answer
When I was waiting to be discharged with my baby no 2 , the Dr took one look in the plastic crib thing and asked if I'd had a test for Down's syndrome , she saw my face but said nothing

If there is a suspicion then a blood test and some genetic family testing will be done and the appropriate care given

All the best lovely 💐[/quote]
Thank you

Is it just a blood test at the gp?

OP posts:
66babe · 15/07/2021 20:59

It would depend .. did they recommend you speak to Gp or say they were making a referral ? How was the discussion left ...

Covidwoes · 16/07/2021 04:02

@MaybeMarfan my sibling has it. Up feeding baby now, but will reply properly at a more civilised time. Physically my brother is tall, skinny and his worst symptom is poor eyesight (although fine with very strong glasses). He has no teeth issues, so it presents differently in different people. The skinny, tall build is typical of marfans though.

sashh · 16/07/2021 07:17

Sign him up for basket ball lessons.

As with all syndromes OP there is a whole list of factors and nobody has all of them.

Most people with Marfan's are quite tall some have problems with their hearts and lungs but it is not something everyone gets.

Try not to worry (And yes that's a ridiculous thing to say to a mother, I know, but still try).

At this moment in time he either has Marfan's or he hasn't, the test will just tell you which for sure.

If and it is an IF he has then there will be further tests to see which of his body symptoms is affected.

If he has Marfan's and IF it affects a particular body system he is then in the position of knowing which treatments (if any) are appropriate and what monitoring needs to be undertaken.

But that's a lot of 'ifs'.

Punxsutawney · 16/07/2021 07:43

Ds was referred to rheumatology a couple of years ago after a physio picked up some signs of Marfan Syndrome. She then contacted our GP and asked them to refer him. Prior to the hospital appointment he had an ECG, which was okay.

At the appointment, the consultant did a quick physical check and said that he definitely didn't have it and she would not be sending him for the blood test.

deepbreath · 16/07/2021 13:31

My dh and dd have it, as do several of our friends.
If you're on Facebook, the support groups on there are brilliant and you don't need a diagnosis to join.

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