Marfan Syndrome

GlasweJen

He's the adult, this poor kid has just been told she's got a life limiting diseases, regardless of what her dads going through he should man up and be there for her!

Jojo_the_Tightfisted

!!!!!! wrote: »

A guy gets told that he possibly has an incurable illness that will cut his life short and probably give him hell and all problems before his death. That's enough to put anyone in denial. Then drop the bombshell that he is the cause of it in his daughter.

And what happens on here? He gets called a jerk because he can not handle the situation and to outsiders appears to be making life difficult. Maybe he needs some counselling rather than getting labelled a jerk?

I get your point, but surely as a parent you would recognise the importance of having your child checked so that she didn't suffer the worst side effects of the unmonitored condition, ie, sudden death, rather than actively seek to prevent her getting diagnosed and checked?

As it is, his inability to accept physical defects means it's already compromising her health as it makes diagnosis of her condition that much harder.

As is his anger and rage at the thought she should be treated for the symptoms of the condition. He is content for her to be in constant pain for the rest of her life (his words) rather than have treatment for scoliosis.



I don't think I am being hard on him. I'm not confronting him with the diagnosis. I'm not pushing it in his face that he has it - after all, he won't be diagnosed. Or isn't admitting that he has. I'm not even telling him she is being seen anymore, as he just doesn't want to know. He doesn't look in her shoes, so he doesn't know she has orthotics, he'll notice it if she needs a back brace because she'll be wearing it. He might notice a halter monitor if they went swimming, but he doesn't go anymore. I do wonder if that's due to the sudden pressure changes that could affect his lungs, but it could equally be because he's fed up of public swimming baths and swimmers' ear.


Her condition could easily be HMS/EDS III from me. If he were involved, they'd be able to be far more certain, as they could test both of them for the genetic markers. So they could both potentially find out they only have a Marfanoid Habitus, which means there's nothing seriously wrong with them, but they simply have an appearance suggestive of the syndrome. A lot of models and athletes have that. So by avoiding the issue, he's preventing them potentially getting the all clear as well.


He wouldn't do counselling. In his mind, he has nothing to be counselled about and anyone who dared suggest this to him was clearly mental themselves. He accused me of Munchausen's by proxy - ie, child abuse - for wanting her checked out by a doctor. He isn't going to be counselled on what he believes is me being an evil, deranged child abuser, is he?


I posted more because I feel very responsible for DD. She's not getting the support from her father as he is unable to deal with it himself, I can't ask him for help because of this. Or any of his family, as he would go absolutely spare. So I am worried that I will miss something really important and I hoped someone else on the forum might be able to think of something I haven't. Because it all boils down to me. It's my responsibility to make sure she is OK and kept safe and as well as possible.


And when my mind won't switch off at 3am because I'm racking my brains trying to think of anything else to say at the next appointments, I burbled a bit that I won't be getting any support from him, as most people's first thought would be to see what other members of the family thought/knew/had problems with.



I've personally got EDS and Rheumatoid Arthritis. They also reduce life expectancy. I'm obviously not pleased about this, but if there is the slightest possibility that a test or assessment of me could help either of my daughters (the eldest has both as well), I'd do it in an instant. Doesn't make me a better person, but I couldn't refuse something that might help my girls. Especially if refusing could potentially hurt them more.

****************

BTW,

I do hope that you meant potentially life limiting, Jen, as I'm not quite ready for that bombshell, myself , but, tbh, it would have been a lot more likely to be life limiting if I had obeyed him and not sought medical treatment for her.

OneYorkshireLass

Jojo, your posts have made me look again at the possibility of me having Marfans - I have had an echocardiogram which showed tachycardia and a short PR interval, but I'm now reading that the echo should be repeated to get a better overview. Also the symptoms of Mitral Valve Prolapse fit me well - I still faint even though I'm on beta blockers to stop this.

I also have the skeletal problems - inverted chest, and some loose joints. I don't have the height, but this could be because I had steriods for asthma (wrongly diagnosed with this) for many years and that can stunt growth.

Trouble is, I'm sick of seeing my GP. He dismisses pretty much everything, won't give me a chest x-ray even though I struggle to breathe. He keeps giving me inhalers which are useless. I stopped using them around 6 years ago when I realised they made no difference to my breathlessness on exertion. Nowadays my breathing's bad even when I'm sat down. The cardiologist said I have a reduced lung capacity because of the inverted chest, but my GP has dismissed this.

I also have really bad eyesight. There's no history of it in the family though, as far as I know.

I might go back to the cardiologist and see what he thinks ...

Jojo_the_Tightfisted

OneYorkshireLass wrote: »

Jojo, your posts have made me look again at the possibility of me having Marfans - I have had an echocardiogram which showed tachycardia and a short PR interval, but I'm now reading that the echo should be repeated to get a better overview. Also the symptoms of Mitral Valve Prolapse fit me well - I still faint even though I'm on beta blockers to stop this.

I also have the skeletal problems - inverted chest, and some loose joints. I don't have the height, but this could be because I had steriods for asthma (wrongly diagnosed with this) for many years and that can stunt growth.

Trouble is, I'm sick of seeing my GP. He dismisses pretty much everything, won't give me a chest x-ray even though I struggle to breathe. He keeps giving me inhalers which are useless. I stopped using them around 6 years ago when I realised they made no difference to my breathlessness on exertion. Nowadays my breathing's bad even when I'm sat down. The cardiologist said I have a reduced lung capacity because of the inverted chest, but my GP has dismissed this.

I also have really bad eyesight. There's no history of it in the family though, as far as I know.

I might go back to the cardiologist and see what he thinks ...

Hope that I haven't alarmed you. But I think in your position, I would be seeking someone else. And changing GP.


(although a lot of those things are also common in EDS and other connective tissue illness)

OneYorkshireLass

Jojo_the_Tightfisted wrote: »

Hope that I haven't alarmed you. But I think in your position, I would be seeking someone else. And changing GP.


(although a lot of those things are also common in EDS and other connective tissue illness)

You haven't, don't worry

I've looked at changing GP, but unfortunately live in an area where a) there aren't many and b) I'm already seeing the best of a bad bunch.

Racheldevon

Hi there
I have EDS 3, and under went the tests you mentioned for heart scans, eyes etc as Marfan's was suspected, but actual diagnosis ended up as EDS 3. Getting the right support can be a real battle, I would consider asking you genetist to refer your daughter to Professor Grahame, at UCLH in London (it's certainly a bit of a journey from where I am) this is how I managed to finally get some good input and get things moving int he right direction. He has been fantastic in terms of ensuring the right support locally has been put in place. PM me if you'd like any more details

Jojo_the_Tightfisted

Racheldevon wrote: »

Hi there
I have EDS 3, and under went the tests you mentioned for heart scans, eyes etc as Marfan's was suspected, but actual diagnosis ended up as EDS 3. Getting the right support can be a real battle, I would consider asking you genetist to refer your daughter to Professor Grahame, at UCLH in London (it's certainly a bit of a journey from where I am) this is how I managed to finally get some good input and get things moving int he right direction. He has been fantastic in terms of ensuring the right support locally has been put in place. PM me if you'd like any more details

Thanks, Rachel. We're quite lucky in that we come under the area for the Marfan's specialist team through St George's, so if they decide it isn't Marfans and it is my fault and I've given her EDS instead (which would have me :j: - well until I dislocated something ), I'll ask her to refer us there.

If you have time though, I'd be really grateful if you would PM some details of the sort of support you have got, as I do feel it's a bit lacking here - although that could just be my perception of it and we're actually doing really well.

:kisses: to all of you for your help!

GlasweJen

Sorry JoJo, I meant life limiting in terms of stuff that she won't be able to do (like join the army or become an astronaut, it's funny how these things don't seem important until you're told you can't do them). I don't tend to think about life length, I could worry about statistics and stuff but tomorrow I could be hit by a bus. There's some things there's no point in worrying about.

I'd also make sure your daughter has a sensible careers advisor, mine told me there's no point in going to uni because I'd probably not do anything with my degree and that would be a waste of government funds!

VfM4meplse

Jojo, on a slightly different topic - !!!!!! did you ever see in your ex? It seems his only redeeming factor is being a vegetarian!

Jojo_the_Tightfisted

VfM4meplse wrote: »

Jojo, on a slightly different topic - !!!!!! did you ever see in your ex? It seems his only redeeming factor is being a vegetarian!

Oh no, that was ex 1 that was veggie


Ex 2 had the advantage of not being ex 1.

And he was this great giant of a man, muscles, deep bass voice, dark hair, blue eyes, who treated me like a queen. Well, until I turned out to not be as perfect as he imagined.


He really was something special. Then it all changed.


Still a complete sucker for tall men, though. They just have to be musical as well, now, so I'm not looking for much