Marfan Syndrome

shays_mum

Hi JoJo make sure you get a diagnosis from those recognised in the EDS/mar's field, as they do overlap.
I think he is the "child abuser" to suggest she should not be tested or wear a brace!!, if you can correct/offset things whilst she is young & developing, then why not do it - sorry but stumps me why anyone would deny their child help?.
As a fellow EDS 3 sufferer all i can say "hang in there - literally" x

Ps think that hypermobility without issues is called benign, eds has many spectrums its true, but would not say benign its really life changing even in its non-life threatening versions

needing-help

Thank you so much for that. I'm always a bit scared to google anything medical!
She has problems with her eyes, teeth and spine and we are waiting for appointments for that and she was measured for the shoes last week. (They let her choose her own colour so she has gone for purple and pink! School will be thrilled:rotfl:)

Her spine bends the wrong way if that makes sense, too far inwards.

Thanks again and I am very pleased you are a mine of information:D

Jojo_the_Tightfisted

shays_mum wrote: »

Hi JoJo make sure you get a diagnosis from those recognised in the EDS/mar's field, as they do overlap.
...
Ps think that hypermobility without issues is called benign, eds has many spectrums its true, but would not say benign its really life changing even in its non-life threatening versions

I know, my first reaction when the geneticist said EDS III/HMS is benign was 'doesn't feel pretty benign to me'. She answered that she hears that all the time from the people who have it, but it's benign compared to severe, undiagnosed Marfan's.

We live in the same area as you and go to the same hospital - so we've probably seen the same people so far.

needing-help wrote: »

Thank you so much for that. I'm always a bit scared to google anything medical!
...

No probs. Google's a pain, as it takes a lot of sifting to notice the life expectancy has gone up from 30-odd in the early 1970s to pretty much the same as everybody else now. And if you get the link that says 30 odd first - _pale_.

Maybe the ex just clicked the first link, or some idiot doctor quoted information 40 years out of date at him. Whatever. It might even turn out that DD can help him by knowing about it and dropping a bit of information here and there. If he chooses to listen.

Anyway, I'm offline now, as she's due home soon - and she might need my laptop for homework, so can't keep this page open.

Ophthalmology tomorrow. At least 3 hours in the most disorganised department of the flipping hospital. Oh, joy of joys [/SARCASM]

D&DD

Hi JJ yes my son is also susupected of having it we're also under the same team as you at St Georges They are the best in the country re Marfans so you're in the right place.
My son has pretty much the same list as your lovely daughter he also has
astigmatism in his eyes
hole in the heart,widening aorta and a few other probs they found before xmas with it

He's had numerous spinal ops ( the curve was eventually too aggressive for bracing after 3 years) so he had growth rods inserted at 9 these were stretched for the last 5 years every 4 months or so and he had a spinal fusion top to bottom last summer. (stanmore RNOH)

His tests are showing up so many weird things we're still not certain if it is Marfans but its 'highly likely' as he ticks every box.

His school I must say have been fantastic considering they are a sports college lol he's always been the ref too so he can still be involved they have a chair in every room he uses with arms so he can be comfortable and have helped us every step of the way :T
I involved the school nurse at the start she even came to Stanmore with us to understand the condition more maybe thats a starting point for you with regards to the school??

Jojo_the_Tightfisted

Ophthalmology assessment was all fine. And I had the entertainment of her being unable to see for two hours following the various potions the consultant put in her eyes. She says it's made her think about what it's like for blind people all the time, as all she could see was blurred colours, no shapes or definition.

[ticks that one off the list]

GlasweJen

That's good JoJo, are her pupils huge now? Just make sure you have her at an opticians every year so that any changes can get referred straight back to Optho.

Jojo_the_Tightfisted

GlasweJen wrote: »

That's good JoJo, are her pupils huge now? Just make sure you have her at an opticians every year so that any changes can get referred straight back to Optho.

Absolutely massive Like great black holes in dark green skies.

I found it very amusing. So does she, fortunately!


We go regularly to the optomerist guy where we used to live because my eyesight changes quite frequently, and she has always tagged along since she was about a year old, so he's used to testing her/vice versa. She trusts him so much, when she was hit/scratched on the cornea at primary school, she refused the hospital, but said she wanted to see him first - and he saw her straightaway. Will be lost if he retires, though, as I don't think there's any substitute that sort of length of knowing someone.

But, another good result

D&DD

Thats really positive news Jo Jo My understanding of it all is that to have the diagnosis you have to have all areas affected as per Ghent's do da's so hopefully for both your sakes its something else less scary.

I've been to have my blood test today as DS2's results showed an abnormality in his MYH11 gene which (thanks to you I reread his report yesterday) I now understand is something to do with his heart

needing-help

Thats really good news JoJo I'm pleased her eyes are fine. So what is next for her?

(my son had those drops a few years ago and it provided all of us with a couple of hours entertainment:o)

Jojo_the_Tightfisted

Ummmm [checks bulging diary]

Physio - where she's going to look at the scoliosis, as it appears to be increasing/adding a bit of kyphosis to the equation,
Waiting for 7 day Holter monitor appointment
Orthopaedics 6 month follow up
Orthodontics - had bottom brace in for 6 weeks soon, will need to adjust both top and bottom again.
Waiting for neurology appt
Waiting for DNA results


At some point, the poor child must surely be entitled to a day off actually being sick. She hasn't managed it since she started senior school, only zillions of outpatient referrals/treatments. And she will need to see the normal dentist as well for a checkup.



Got another message from the school today asking where she was last Friday. Bearing in mind they've been told 4 times already. :cool:

So I repeated it all again.


[adds 'waiting for Educational Welfare Officer to get on the case due to Attendance Officer not believing/keeping proper records/not caring because absence makes her look bad' to the list]