Marfens syndrome

[letlooseletloose]

I've just been googling and terrified myself..:I have scoliosis and pectus excavatum, never caused me any problems, but I'm not in my 30's and read that having both of these have a strong link to marfens syndrome. I'm so worried..any advice. I don't think I have any other symptoms apart from an abnormal ecg but drs seem to think that's just normal for me and don't seem worried. Normal echo

Sorry should say I am in my 30's

Hi,
Sorry you're worried. It is stressful. If I were you, I would push for a referral to rheumatology to investigate the possibility of Marfan's. Rheumatology will refer you to genetics if need be, for further testing. I don't think GPs are particularly knowledgeable about it and they sometimes don't join the dots, so it needs to be investigated by the people who specialise in that sort of thing.

But try not to worry too much. If you do have it, the heart problems it can bring are treatable nowadays so it's not the problem it once was. But it's important to know you've got it.

Good luck

We have this in our family and a few years ago lots of people in my family got tested.
I don’t want to scare you but my relative who seemed to show no symptoms just does out of the blue one day while her child was at school (luckily). Other relatives have had slow, progressive deaths.

Oops typo... relative died out of the blue

Thank you so much for replying. I have booked a telephone appointment with GP on Friday, do you think I should mention it to them? I'm so worried, surely I would have known before now? I don't know, can't think straight

@ItStartedWithAKiss241 gosh that's awful, did she not know she had it?

There is a marfans support group on Facebook. I've been investigating for my daughter. It's a spectrum so you can have it mildly or strongly. Worth going to your GP to start the process of investigating as the main concern is about the heart. My daughter doesn't have some of the symptoms but has hypermobility in her legs that cause a lot of pain without orthotic inserts, wide arm span and tall and thin.

Bit of an aside but there's an actor in Star Trek Discovery who has Marfans. He's not young and clearly very active.

The most important test for
People with Marfan is an Echo, which you have had. Most
People who think they have Marfan don't have it! You could speak to your gp

Thank you for replying. I'll have a look at the Facebook group. I don't suffer with anxiety but this has just started something off it's going to be a long wait until GP appointment on Friday

@ChocolateHelps

There is a marfans support group on Facebook. I've been investigating for my daughter. It's a spectrum so you can have it mildly or strongly. Worth going to your GP to start the process of investigating as the main concern is about the heart. My daughter doesn't have some of the symptoms but has hypermobility in her legs that cause a lot of pain without orthotic inserts, wide arm span and tall and thin.

Bit of an aside but there's an actor in Star Trek Discovery who has Marfans. He's not young and clearly very active.

How old is you daughter @ChocolateHelps
Has she received a diagnosis and how long did it take?
Thank you

@polanama

The most important test for People with Marfan is an Echo, which you have had. Most People who think they have Marfan don't have it! You could speak to your gp

Thank you, that's reassuring

Ds1 (6', skinny, long fingers) was tested and had 8 out of 9 skeletal indicators (hyper mobility etc.), but none of heart or lung indicators so not marfens.
DS2 (similar build) was tested when his asthma wasn't following normal patterns, his heart and lungs were scanned but no issues found.
Best to get tested to get peace of mind

@Bumply

Ds1 (6', skinny, long fingers) was tested and had 8 out of 9 skeletal indicators (hyper mobility etc.), but none of heart or lung indicators so not marfens. DS2 (similar build) was tested when his asthma wasn't following normal patterns, his heart and lungs were scanned but no issues found. Best to get tested to get peace of mind

Thanks @Bumply that must have been a relief for your I'm definitely going to mention it to GP. Is there a specific test for it do you know