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anyone out there have a dc with marfans?

(11 Posts)
ALovelyBunchOfCoconuts Wed 06-Feb-13 18:41:16
ALovelyBunchOfCoconuts Wed 06-Feb-13 18:39:22
ALovelyBunchOfCoconuts Wed 06-Feb-13 18:38:40

[[ http://www.marfantrust.org/our_research/ Dr Anne childs]]

ALovelyBunchOfCoconuts Wed 06-Feb-13 18:36:08

oh and he is also very hypermobile and his ankles tip in so he has to wear special splints. he also is covered in stretch marks from where he grew taller too quickly. its is the fibrillin-1 gene that needs to be tested unless features make it obvious. if you have other dc they need to be tested also.

ALovelyBunchOfCoconuts Wed 06-Feb-13 18:32:41

to get*

ALovelyBunchOfCoconuts Wed 06-Feb-13 18:32:22

My brother has it. He was diagnosed at 7yo. He is now 12yo. He has hammer toes and my mum was trying together those sorted and he got referral to a podiatrist. It was the podiatrist who picked it up and then referred him to hospital. Dr childs at st georges tooting is a specialist who saw him. you can Google her and request to be referred to her.

you need to get it diagnosed asap.

pp who said if parents don't have it then he wont is wrong. nobody in my family has it. we have been told it can be caused by mutation as well as passing it on.

my brother is on meds to keep his BP down as his mitral valve is very floppy and can rupture if too much pressure flows through it. he is not allowed to do contact sports and he has no muscle tone. his eyes are fine but teeth are overcrowded and he is super tall and skinny. also pigeon chested and aforementioned hammer toes.

Amy other questions please ask :-)

Loshad Tue 05-Feb-13 20:14:00

Marfans is a dominant disorder, which means if you carried the gene for it, you would be affected. If you do not have Marfan's syndrome yourself, then your sons risk goes right down to population risk (which is very small, about 1 in 10,000).

minsmum Mon 04-Feb-13 21:14:16

The GP thought that my DS might have it. If I remember correctly she measured his arm span, sent us to have his eyes looked, specifically for Marfans and sent him for x rays. He didn't have it and there maybe some things I have forgotten. He was 17. It had never crossed my mind but she had seen a patient with Marfans a few days after she saw my Ds and said they had the same body shape so she wanted to rule it out. She phoned me on a sunday to arrange everything.

ceramicunicorn Mon 04-Feb-13 21:06:23

I haven't. Thanks so much, I'll have a look.

3littlefrogs Mon 04-Feb-13 20:33:33

Have you tried this for information?

Marfan Association UK
Rochester House
5 Aldershot Road
Fleet
Hampshire
GU51 3NG

Tel: 01252 810 472 (Answerphone: 01252 617 320)
Web: www.marfan-association.org.uk

ceramicunicorn Mon 04-Feb-13 20:27:09

If so what age were they diagnosed?

My mother and grandmother had marfans. Myself, my db and ds have several marfans characteristics but not enough to be considered marfanoid. My 7mo ds has pigeon chest , 96th percentile for height, 30th for weight and I really want to have him properly checked out. I''ve taken him to the gp 3 times and each time he's made out I'm being melodramatic, whilst also saying he doesn't really know much about marfans but he says it's normally diagnosed in adulthood. This is the case but surely there are tests that can be done if there is family history?

My dm died from SADS which is marfans related. I'm a first time mum and I know I'm being a worrier but I just don't know how to keep pushing for a diagnosis.

Any advice?

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