what should we ask the genetic counsellor?

[cory]

Dh and I have finally got our appointment for genetic counselling tomorrow at lunchtime. I am hoping that this will bring some closure for us, and be a good place to actually talk about the family (rather than your usual paed's appointment where you're shoved out almost before you've got yourself seated and only ever allowed to ask questions about the issue/child immediately at hand).

Background: both dcs have been diagnosed with Joint hypermobility syndrome, a connective tissue disorder which is though to be inherited as a dominant gene (will obviously ask for this to be confirmed); which would mean a 50% of passing it on if either dc has a child with somebody not carrying the gene. It seems to run in my family- at least my Mum seems to me to show symptoms to she is now suddenly denying it and seems very uncomfortable with the idea of it being us rather than dh's family.

The three questions I have thought of asking are:

why has my family been jogging along reasonably well with this syndrome only for it to become a real problem for two siblings? can the gene have mutated or is it just hard luck?

if there is a 50% chance of inheriting, what exactly will they be inheriting- the gene or the syndrome?

and if it is the syndrome they pass on, is it more likely to be the bog standard syndrome the rest of us may have, or this worse syndrome of dd and ds?

That's all I can think of atm. Can you think of anything else? What would you be asking if you had the chance?

I feel like I have this massive opportunity and mustn't blow it. I know it won't change anything in their lives now (perhaps not ever) but it would make a big difference to me to know I had some answers.

write down what you want to ask - but don't worry about it being yr one and only chance to ask stuff - am sure you will be able to call and ask further questions or leave a message and they will call you back

your questions sound fair enough. Before you get chance to ask any of this they'll probably go over yr family history with you thus be asking you lots

there are various patterns of inheritence depending upon the suspected / diagnosed disorder or syndrome - eg recessive, auto recessive, chromosomal rearrangements etc etc. This will be explained to you. From this you will then have a better idea of the sort of odds you and yr dc are facing re future children

best of luck. Hope it goes well and you get some of the answers you are looking for

I was told it is inhertied and like ASd there is a wide ange of how it affects.

fo example I suffered very badly in my teens with pain and dislocations.I still have it now but its not as bad was told things tighten up as get older but then Dr was supried to find that i can still do splits sit in locust postion for hrs but the dislocatios havegot less.

Ds1 15 has but has had a few dislocations for him was more showed up in his problms with handwriting.

Ds 2 12 showing no signs

Dd 6 seems ok to

Ds 3 4 is worse affected uses wheel hair dislocations pain the lot

And since Ds1&2 have differnt dad to younger 2 its obvious my line and when think of my dads party tricks its obvious.

But even though have it I did go onto carry 4 children without a hitch

thanks both of you, helps to sort out my thoughts

I am fairly sure I know that this is a disorder that is inherited through a dominant gene, but I'll obviously ask

I have read about how varying it can be, I suppose I'm just a bit thrown by the fact that it has suddenly got a lot worse in my two children- so will definitely ask about that one

the family tree is not going to be so easy- my Mum, who I suspect it's inherited from, is suddenly clamping up and refusing to acknowledge that she's ever had any problems of any kind- even things I remember very clearly from my childhood that she couldn't do, or things that we have all seen her do; she is very eager to push it back onto dh ("he walks funny")- and dh is definitely not hypermobile and never has been.

My Xh family was the same for couple of Ds3 othe rissues .

And a possiable answer for the getting worse as get older is down to growing and the extra weight putting more starin on the jointsalso activctey ,

Ds got a lot worse once he tried walking been told that ideally need keep him on the light side which luckily not hard as he is a tictch .

Also have found since he got AFos he is not in a smuch pain in his ankles as he is not having to put as much effrt to hlding them in right postion there for not puttling his knees and hips out of line to and his spne not twisting with it soo much .Just another option might be worth thinking about

thanks

Hi Cory, it's been a while since our family went for genetic counselling for Marfan Syndrome, but I hope I can help a bit.

If hypermobility syndrome works in the same way as Marfans, we were told that as the gene is dominant it means that any person with that gene will have the syndrome. It doesn't act like some other genetic disorders where you need both parents to have the faulty gene for their child to have a problem.

We wrongly assumed that dh would be the worst affected because his arose as a genetic mutation rather than him inheriting it. We sort of thought that dd might somehow get a diluted version! On the other hand, we don't know if they're just finding more things wrong with dd because after having the positive genetic test they know what to look for. The doctors are also better equipped to find problems now that may have been overlooked/ignored before.

The geneticist that we saw was lovely. She came up with things that we hadn't even thought of back then... some of it was quite hard, I think she mentioned that it might not be safe for dd to get pregnant if her heart was badly affected. Dd was only about a year old at the time. We were told that we could go back at any time, especially when dd is old enough to want answers for herself.

I think older people are very wary of genetic illnesses. My MIL gets quite upset when dd has hospital appointment - she feels that somehow, dh and our dd having this is down to her. None of her other dc's have got it.

Thanks, deepbreath.

Just got back from the appointment and it was very good- but exhausting. The counselling nurse took lots of notes and did a family tree and talked a bit about Hypermobility syndrome, but then said she really felt that a geneticist ought to see both children together and determine if it really is only hypermobility syndrome or if there is something else (seemed to be thinking of either Marfan's or Ehlers Danlos II, I guess, as both biopsies and heart checks were mentioned). There was also the thought that dd's constant virus infections might not be down to just fatigue from faulty joints, but that there might be something else wrong with her too. (so that does sort of raise the hope that there might be something curable about part of her profile, though obviously not the joint part).

We will get our next appointment in about 3 months time.

Ready for bed now....

cory glad it went well!

i am one of 8 children and out of them4 of us me being one of them as hypmobilty with pain and dislocations and 3 as had operations to hold hips shoulders in place even my mum had her shoulder done. i have refused to have any done untill its really nesserary.my dd is very bad to and only a few weeks a go her finger came out and she pushed it in her self at 2 year old. our genetic tean is really interested in our family , plus my sister and brother have children with disability too not just hypmobilty like spina bifida, hair lip, club foot then dd who as so many problems.

I'm glad it went OK Cory - make sure to chase them up if you don't hear about the heart checks etc... your dc's at least need an echocardiogram. It's quick and simple, and they can tell you there and then if anything's either wrong or if it's all OK.

Sorry for slight hijack here. Psychotrace, my dd made the nursery staff go green once by re-locating her popped little finger. She looked down and saw it didn't look quite right, so she wiggled it back into place and carried on playing!

thanks, psycho and deepbreath; I'll make sure to chase everybody up; big sort of thing once I though diagnosis was all done and dusted, but I felt nurse had a point when she said it should be looked at once by a genethicist, not just by rheumatologists (and tbh haven't felt any of the rheumatologists knew that much about it)

We tend to see individual doctors to deal with each problem. Opthalmology (you may need to go here too, btw), cardiology, orthopaedics etc. rather than having one doctor overseeing everything. That would help, as it often feels like the right hand doesn't know what the left hand is doing! There are a few other more rare genetic conditions that can cause similar problems, eg, Sphritzen-Goldberg syndrome (?sp). There's a lot of crossover between these connective tissue disorders. There's another good support group here with sub-groups especially for parents.

It can be worrying when they throw these extra possibilities at you, but at least if you know exactly what's wrong, your dc's can be given the right treatment.

hi ive just been through the same thing ,just waiting for some more results to come bk !!

glad it all went well , were waiting on similar tests to same as you for ds