Marfan Syndrome

D&DD

JJ re the scoliosis do you know what her Cobb angle is offhand? How old is she? Girls do mature faster bonewise than boys,enabling them to have their fusions earlier (if needed),you tend to notice the curve increasing when they get a growth spurt.

Re orthodontist we have a medieval looking torture device to pull his jaw forward with blocks on he has to line up evil contraption but they won't do a fixed brace until after the jaws are aligned BUT I'm dubious as to wether a brace will work anyway as with a collagen disorder surely the body will revert back to its preferred shape..what do you think?? Has your specialist mentioned wether the outcome will be permanent or not?

Sorry to bombard you with questions I'm still trying to figure all this out myself lol,can PM if you prefer X

Jojo_the_Tightfisted

D&#8517 wrote: »

JJ re the scoliosis do you know what her Cobb angle is offhand? How old is she? Girls do mature faster bonewise than boys,enabling them to have their fusions earlier (if needed),you tend to notice the curve increasing when they get a growth spurt.

Re orthodontist we have a medieval looking torture device to pull his jaw forward with blocks on he has to line up evil contraption but they won't do a fixed brace until after the jaws are aligned BUT I'm dubious as to wether a brace will work anyway as with a collagen disorder surely the body will revert back to its preferred shape..what do you think?? Has your specialist mentioned wether the outcome will be permanent or not?

Sorry to bombard you with questions I'm still trying to figure all this out myself lol,can PM if you prefer X

Don't know what the angle is, I know it was very small, but seems to have increased recently. She's 13 in June. She's grown about 2cm in 3 weeks, so I think the growth spurt is upon us. Her father grew more than an inch a month at about 14 and went from normal(ish) height to towering over everybody by his 15th birthday.

She's having the bracework done first as there wasn't the room in her mouth for her teeth as they were (had the vampire fang coming through right at the top of her gum and that's being pulled down), and her front teeth were starting to cross over. Her bottom teeth didn't look crooked to me, but perhaps that's part of making sure the jaw is big enough to let the teeth grow and ensure they match up, as her jaw were beginning to drop back quite noticeably.

The change was dramatic once they went on - within days, she looked more like 'her' again. And she likes having braces. She says that they look fine and having perfect teeth and a good chinline is worth every moment of it. Her Dad, apparently, didn't, so didn't keep up with appointments when he was a teenager, so his jaw recedes quite a lot and his top teeth cross over and protrude at the same time.

When I was on a course a few years back, I met a man who was almost the spitting image of my ex, and he had braces courtesy of the NHS (as a late 30 something year old) to deal with the same sort of thing (high arched palate, crowding, jaw misalignment) - the difference in his jawline, compared to the ex, was striking.


They have said she'll definitely have to wear retainers until she's in her early twenties - perhaps she'll be able to have ones attached permanently behind the teeth by then. But so does anyone who has private orthodontic treatment, as it gives the best outcome compared to stopping everything at age 16.

Teenage years, as I understand it, are a perfect window of opportunity to make dramatic changes to the structures - stuff done later still works, but may not dealing with the most acute issues in the way doing it now does. Well, that's what they told me at orthodontics, anyway.

And they mentioned that stopping the jaw falling back helps with breathing, particularly at night, as sleep apnoea can happen with hypermobility, EDS or Marfan's - and having OSA myself, I wouldn't want her having to use a CPAP machine to maintain her airways at night like I have to do.



So, along with DD wanting it done, I was happy to agree as it gives her the best chance to cutting off problems before they start.

I think you can't beat a bit of confidence in having nice teeth and a good profile when you're a gangling teenager with legs and arms like a stick insect, constantly injured/in pain/wearing a knee or back brace, limping, feeling cold, missing loads of school, wearing shoes like canoes with special insoles, getting slightly different treatment at school so everyone knows you're different and having the ability to gross out your schoolmates by bending your elbows and fingers back on themselves.

D&DD

Thanks JJ I think I'll end up getting him referred to St.g's maxillofacial re his teeth as to be honest he's had to miss so many tightenings etc due to his other ops he's now 17 and they really need sorting..
Interesting about the Bipap I didn't consider the jaw affecting his breathing too I always assumed it was the spinal curvature.

We've had such a long road trying to get to the bottom of his probs and even the genetics now has been 2 years and its still ongoing..it does get frustrating.

We only found out he had heart problems after he'd had numerous operations and a fellow patient at Stanmore remarked on the similar features of her daughter and my son and asked if he'd been tested for Marfans.

Took him to our GP who asked how long he'd had a heart murmur for :eek: and its sort of gone on from there..now his heart has deteriorated and he's looking at heart surgery this year now.

Think thats been the scariest part for us..we would never have even known if it hadn't been for that chance meeting

needing-help

Wow she has a lot of stuff to cope with, it's a good job she has you. I'm sure the last thing you need is having to deal with the school and stuff.

The thing with braces on their teeth is they are quite trendy now, so many kids at my sons school have them I think you are seen as different if you don't!

Jojo_the_Tightfisted

D&#8517 wrote: »

Thanks JJ I think I'll end up getting him referred to St.g's maxillofacial re his teeth as to be honest he's had to miss so many tightenings etc due to his other ops he's now 17 and they really need sorting..
Interesting about the Bipap I didn't consider the jaw affecting his breathing too I always assumed it was the spinal curvature.

We've had such a long road trying to get to the bottom of his probs and even the genetics now has been 2 years and its still ongoing..it does get frustrating.

We only found out he had heart problems after he'd had numerous operations and a fellow patient at Stanmore remarked on the similar features of her daughter and my son and asked if he'd been tested for Marfans.

Took him to our GP who asked how long he'd had a heart murmur for :eek: and its sort of gone on from there..now his heart has deteriorated and he's looking at heart surgery this year now.

Think thats been the scariest part for us..we would never have even known if it hadn't been for that chance meeting

DD gets seen at the local maxillofac/orthodontics specialist, not because it's difficult work, but because of the other stuff going on, so it shouldn't be too hard to get sorted for you (although I would suggest getting the first appt before his 18th birthday, just because it makes it easier when it comes to funding and suchlike).

If you think about normal first aid, one of the things you do is to bring the jaw forward when someone has difficulty breathing. And if you lie on your back and allow your jaw to fall right back, I think that'll start to cut off your airway as well.



Every time we get something back that 'isn't too bad' or 'is fine', I breathe a sigh of relief. If it hadn't been for the phrase 'suggestive of Marfan Syndrome' on a referral letter sent to the ex when he was here, by mistake, as it had been accidentally put inside the appointment letter for an assessment of knee pain, I would never have heard of it either. And as the original GPs consistently dismissed the scoliosis as something she would grow out of, the fainting as just one of those things and left me feeling like an idiot for asking about it without the ex having a definite diagnosis - for ten years - I'm not entirely surprised you found out in such a horrible way.

After all, you would have thought that someone had noticed it during your DS's surgeries. Perhaps they did, but just assumed that someone else was dealing with it all the time. Who knows?


Perhaps your woman waiting with her daughter had exactly the same happen to her?

D&DD

Thanks again JJ I really appreciate your help.
Yes it makes perfect sense now re the jaw I suppose we have always been so focussed on 'the back' as thats all we thought it was at the start..

As your DD is in high school they should still have a school nurse so I think it might be worth finding out who they are and ringing them direct for a chat.As I said ours has been really great.
His school also has a superb pastoral care system which has helped when he's been off for extended periods,they liase with all his teachers to make sure he gets work sent home.

Another thing to be aware of is her options in year 9 as we had to be guided by what physical limitations DS has as well as subjects which could be continued easier at home during recovery periods after ops (if she does need surgery)


Have you a children with disabilities team where you are? Ours have been really good and we have through them managed to have adaptions made to the house as you and your daughter both need help with certain things this might be worth looking into?

Our local carers centre is also a mine of information regarding the disability act in schools etc.

GlasweJen

I get the eye drops all the time as we're a teaching practice. We accidentally overdosed me on an anaesthetic one once (I was being a baby with a rigid lens that a student was trying to fit me with) and oh my word the headache was immense!

I've googled marfans and realised I tick a lot of the boxes but was diagnosed with just plain dysautonomia which isn't scary at all. Hopefully jojo jnr will have one of the less scary variant illnesses.