Marfan Syndrome

Jojo_the_Tightfisted

DD has possibly got this.

The geneticist said ordinarily, had she seen DD without any family history, she would have thought she had HMS/EDS III. Or she would have looked at my ex, taken a full history from him, genetic testing, and made a decision based upon that.

However, as he refuses to have a part in this - to the extent of stating he would call social services and report me for having Munchausen's By Proxy if I took ever her to the doctor's - she has had to go by the little scraps of information we can give her. And they are very strongly suggestive of DD having Marfan's instead, as her father's own condition sounds very, very likely to be it.


I reckon that, if he accepts the possibility of DD having this, it makes it real and has to accept he is not perfect in every way. He doesn't believe in illness, full stop, anyway - a physical illness is proof someone is lazy and only interested in being a victim, apparently. So I can see that something so serious really contradicts his moral schema. Although I would quite cheerfully beat it into his head with a baseball bat, I can't see him putting the welfare of his daughter above his need to remain perfect in his own world.


As another whinge on the side, he has said she isn't allowed to have a brace for scoliosis, as no child of his was going to ever look like a cripple, so she'll just have to get used to being in constant pain, as at least she'll look normal. Fortunately, someone who outright refused parental responsibility when it was freely offered doesn't tend to have many rights to influence/prevent medical treatment, so his orders have been quietly ignored on every occasion.


Anyway, putting his denial and complete absence of useful information or support to one side, it's down to me & DD to deal with it.


So, as I think there is at least one person around who is likely to have Marfan's on the boards, I was hoping they could give a few pointers


We've had EEG, ECG, EKGs all normal. Got a holter monitor test coming up, and an ophthalmology appointment next week. She's given another blood sample, this time for genetic testing, just to see if she has the particular markers they have already pinpointed. (The consultant remarked that it would have been really useful to have samples from her father's side, not just for her, but for their studies, so for other children, but it's not going to happen)


Are there any other things which we may have overlooked? She has physio, is seeing the ortho for her spine, has the heart scan and trace and is about to have her eyes checked, and gets orthodontic treatment at the hospital because of the possibility of Marfans. Oh, and has orthotics to try and keep her ankles, feet, knees and hips in line and reduce pressure on her back.

Have we missed something?



And other than not doing trampolining (orthopaedic surgeon's orders), is there anything else she shouldn't do?

The geneticist has told her very clearly that everything they have tested is fine - she isn't going to drop dead, as her heart is perfect and they will keep checking it to make sure that it stays that way - but if there are things that could make it worse or can crop up out of the blue, it would be really handy to know them.


I'm not bothered by her having a condition in itself. It's not something I could have predicted or prevented. I'm bothered that her father has actively sabotaged my efforts to get it checked out much, much sooner, although I can sort of rationalise his thoughts. But I'm bothered that I might miss something and it cause her a problem later on.


Can anyone give any ideas?

OneYorkshireLass

How long is the holter monitor for - 24hrs or 7 days? A 7 day monitor would be much more beneficial for an accurate diagnosis.

Do you have custody of your DD through the courts? Just wondering if you could get a court ruling for a DNA sample from her father. Sorry to hear he is so belligerent, it can't be easy, but you sound as though you're in control of this and doing everything you can to help her.

Good luck with the next few tests.

Jojo_the_Tightfisted

OneYorkshireLass wrote: »

How long is the holter monitor for - 24hrs or 7 days? A 7 day monitor would be much more beneficial for an accurate diagnosis.

Do you have custody of your DD through the courts? Just wondering if you could get a court ruling for a DNA sample from her father. Sorry to hear he is so belligerent, it can't be easy, but you sound as though you're in control of this and doing everything you can to help her.

Good luck with the next few tests.

Thanks for replying,

It's a 7 day one.


I don't have custody of her through the courts, as legally he has no rights - he doesn't have (and didn't want) Parental Responsibility and there was never any debate about where she would live.

He walked out shortly after Marfan's was first mentioned in relation to him, changing his mind about us marrying and having more kids almost in the course of a weekend. Perhaps he found out about the implications of it and decided life was too short to waste it on a wife and kids, perhaps he wanted to run away and reinvent himself as the perfect physical specimen rather than have someone know about the risks, perhaps he met someone else at work on the Friday and decided she was the one for him. Whatever, he's got his own issues going on and DD doesn't want him to know about any of this as it just causes her more hassle on the times that she stays with him.


As long as he continues to see her regularly, that's the most important thing for her, and I don't really want to upset him too much in case he walks away from her for forcing him to confront this thing against his will. He had trouble adjusting to my having Rheumatoid Arthritis, as it contradicted his view of my being perfect (me? :rotfl:), so I sort of understand why he can't/won't deal with this.


Meh. I'm warbling.


Anyhow, I really want to be certain that nothing has been missed, as there are so many things that can go wrong with systemic conditions, and as we finally got in the system (I was dismissed when DD was a tot because her father refused to be diagnosed, and they refused to refer her unless he had a diagnosis, so it's taken 10 years to get to this point).


If I'm doing something practical, I'm not thinking about the future. Although posting at 3 in the morning shows even that doesn't really work.


So thank you for your reply.

OneYorkshireLass

Aw, don't worry about warbling.

Your daughter's a lucky girl to have a mother like you. Everything sounds to be going well with getting a diagnosis - the tests are the right ones to have, your consultant seems to know what he's doing etc.

I'm sure you'll have already found it but there is a Marfan Association http://www.marfan-association.org.uk/ if you need extra information or guidance. And http://www.marfantrust.org/

Your ex sounds like, sorry to be blunt, a jerk and you're probably better off without him. It must be hard juggling your daughter's natural love for her father with shielding her from his, frankly, barmy ideas that people should be 'perfect'.

Mrs_Money

I know only a little about this condition, but I do know a family with it so I understand a bit about it. Perhaps the Marfan Trust could help or advise you?
Good luck with it all.

GlasweJen

Hi JoJo, don't know much about Marfans but I've had a billion and one halter monitors in the past. If she asks for it to be placed over her shoulder it can be disguised with a loose cardigan so that no one at school need know she's wired up. You can get an implanted loop recorder that is like a pacemaker so it's inside the patient but it saves funny heart episodes and is a billion times better than the external monitors.

OneYorkshireLass

GlasweJen wrote: »

Hi JoJo, don't know much about Marfans but I've had a billion and one halter monitors in the past. If she asks for it to be placed over her shoulder it can be disguised with a loose cardigan so that no one at school need know she's wired up. You can get an implanted loop recorder that is like a pacemaker so it's inside the patient but it saves funny heart episodes and is a billion times better than the external monitors.

lol, mine would beep loudly at work when it came loose - so everyone knew!

Loop recorders are fabulous, I'd forgotten about those Jen. I didn't get one in the end and was quite disappointed as I think it would've caught more in the 12 months my consultant suggested than the 7 day monitor. It's just a tiny incision in the chest and the chip is placed under the skin - very quick and quite painless (well, that's what my consultant told me!).

Jojo_the_Tightfisted

GlasweJen wrote: »

Hi JoJo, don't know much about Marfans but I've had a billion and one halter monitors in the past. If she asks for it to be placed over her shoulder it can be disguised with a loose cardigan so that no one at school need know she's wired up. You can get an implanted loop recorder that is like a pacemaker so it's inside the patient but it saves funny heart episodes and is a billion times better than the external monitors.

Thanks, Jen. I think the school would go ballistic if she were to break the rules and wear a cardie, but we're getting used to annoying them nowdays

Most of the time, she gets the 'you're just one of those people making it up to get benefits, aren't you?' stuff, so I think being wired up might be positive in some respects. Although then she gets the spacky comments, but she uses those about herself anyway, as it takes the power of the words to hurt away.

The staff aren't that much better, although her form tutor inadvertantly got a ballcocking for the offensiveness of the attendance officer before Christmas, as the AO didn't identify herself, even when asked if she was DD's tutor. So after the appropriate apologies on my behalf (!), the form tutor does cut off some of the more offensive comments made by other kids and I think ensured that the PE teacher gives her the job of referee rather than moaning she isn't doing that particular activity in PE again.


Hard to work out what should be put into a careplan for the school. She can't have a decent chair, because the kids move class every lesson. The classrooms are on different floors, so she has to do the stairs all the time. The school itself is up a steep hill not served by public transport, so she has to walk that every day.

But she plays drums, which I think is pretty good exercise, she does art and dance/drama (although the drama teacher possibly needs reminding that a 6 stone kid with scoliosis isn't best placed to be told to lift a 10 stone one in classwork on pains of marking the whole class down as a failure and getting detention), really need to make sure she eats more healthily, but the hardest thing I suppose is just the not being able to keep up in the same way and the comments from the kids who believe all that venom in the press from MPs and whatnots.

GlasweJen

I don't think anyone ever asked if I was faking it for benefits but I did have a lot of teachers think I was faking it to get out of boring classes!

System

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?

OneYorkshireLass

!!!!!! 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 think you maybe need to re-read the OP's first and second post.