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Original poster

I feel so very anxious about seeing the geneticist on Monday

34 replies

EmkanaCookTurkeyLikeICan · 09/12/2006 09:13

Last day after lots of unnecessary reading on the web I convinced myself again that ds has Jeune's syndrome.

I have had lots of positive moments over recent weeks, but now I'm just bl*dy scared again.

It doesn't help that on one site you read about Jeune's "Respiratory problems will improve after age 2"
on another site it says "Symptoms might not appear until age 4 or 5, when child may gradually outgrow his or her lung capacity"

So which one is it then?

On the other hand I'm thinking the geneticist will probably just say again that he can't make a definite diagnosis... and so the thoughts keep going around in my head.

And to top it all I spoke to my mum yesterday and she was crying her eyes out because my dad is getting so bad with his Alzheimer's. I so wish I could do anything to help her, but I'm her and she's in Germany, so...

OP posts:
Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 09:13

Last night
sorry my English is deserting me atm

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olittletownofberolina · 09/12/2006 09:23

Oh em

Of course you're going to be nervous, but (you know this, I'm sure) please try not to draw any conclusions from reading on the web. Possibly symptoms/outcomes in Jeune's are very variable and the different sites emphasise different ones - which 'unterm Strich' doesn't really help for your and Seb's own particular case, iyswim.

I'm sorry about your dad/mum - it must be frustrating to be so far away - can I do anything? (If they are where I think they are, we'll probably be visiting that neck of the woods in Feb or March, so just let me know if there is anything I can do). I'm sure it does your mum good just for you to listen while she cries/rants once in a while, though.

(it's foundintranslation!)

olittletownofberolina · 09/12/2006 09:24

and of course he might not even have Jeune's... didn't want to imply with my post that he has.

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 09:26

Hallo
ich antworte mal kurz auf Deutsch um Dich nicht zu "enthuellen" - ich danke Dir sehr dass Du meinen Namen eingereicht hast, dass war wirklich sehr sehr nett von Dir - habe die e/mail erst gestern gesehen, aber war mal wieder zu verpennt um gleich zu antworten.

You're right about ds, I know you are, but I'm just getting so nervous... will just have to get through the weekend somehow.

Why the name change? And how are you? I'm really glad that you're back on MN regularly again!

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Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 09:27

name change for christmas of course - doh, sorry

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olittletownofberolina · 09/12/2006 09:29

aber bitte, (sehr) gern geschehen

I used to be berolina and am thinking of a gradual change back via Xmas name seeing as we're prob heading back in the Berlin direction...

I am knackered, overworked and worried (for less weighty reasons than you, though - just about the future, jobs, dh's funding, etc. etc.) but not bad on t'whole.

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 09:32

I like the name berolina

Do you know when you will be going back to Berlin?
Will be quite a change from small-town Germany to the big city - but I guess as you've lived in Berlin before you'll be fine!

I'm ashamed that I've only been to Berlin once in my life, and that was before the Mauerfall. Will really have to go again some time!

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olittletownofberolina · 09/12/2006 09:33

Can you do something nice this weekend? Any nice festive events you could go to, if Seb's well enough? Whatever the geneticist says, you need the nice things and moments to recharge your batteries. I take any chance to relax and forget things for a bit that I can get - I know how stressful things could get in a few months' time. I know our situations are not comparable, but you do need breaks.

olittletownofberolina · 09/12/2006 09:33

The move will be between April and June, I should think.

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 09:37

Yes we'll try and do something nice.

It is always easier to cope when you're out and about, isn't it?

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olittletownofberolina · 09/12/2006 09:41

Oh, it is - in all sorts of ways.

We're going to the local Anglican carol service tomorrow and I'm singing the solo to 'Once in Royal David's City'

delllie · 09/12/2006 11:52

When my DD was a baby she had numerous health and developmental problems and I absolutely convinced myself from inputing all her symptoms into search engines that she had 'Rett syndrome'. I remember her first year as being a very anxious and stressful time and I was too scared to confide in anyone that I thought DD had Rett syndrome incase they agreed with me. We had a geneticists appt at 18 months and I almost couldn't breathe the night before out of fear. Anyway the geneticist completely ruled out Rett Syndrome just by looking at DD, didn't even want to test her for it. I remember the Geneticist saying that there can be a world of difference reading about 'symptoms' and actually 'seeing' them. Even now (and DD is 5 next month) when I am foolish and have a 'google', Rett syndrome still always comes up!! It is felt that DD does have some syndrome/condition but is undiagnosed as yet, but we do know now that a lot of her health problems when she was a baby was caused by severe acid reflux, which went undetected by one hospital and only picked up when we seeked a 2nd opinion by another.

Big hugs to you, this is a very stressful time, hope all goes well on Monday.

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 19:58

dellie - thanks for your post.

It would be wonderful if our experience mirrored yours, but I daren't hope...

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Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 21:41

shameless bump

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olittletownofberolina · 09/12/2006 21:44

evening em, how was your day?

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 21:47

Hiya - not bad. We put up the Christmas tree, went shopping, watched X factor...

nothing exciting, just relaxing family time.

Am annoyed with dh though - he just can't cope with my emotions, just wants it all to go away.

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olittletownofberolina · 09/12/2006 21:51

sorry it's difficult with your dh - it's a pretty typical 'male' coping mechanism, I think, though I'm sure that doesn't make it any easier to live with. FWIW I shall be thinking of you on Monday.

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 22:08

thank you

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pooka · 09/12/2006 22:19

Oh Emkana - it would be such an enormous releif for you to know for certain wouldn't it? It seems like ages ago that you were pregnant and ages since Seb was born, and you still haven't had a definitive diagnosis.
I will keep my fingers crossed that the geneticist is able to reassure you with a definite answer (while obvioulsy hoping that Jeunes can be completely ruled out).
Sorry that your dh is being ostrich-like. But suppose everyone deals with things differently and maybe he is being pragmatic - i.e. there's nothing you can do about until you have a definitive diagnosis so what's the point of worrying? That's what my dh is like - he won't ever get worked up about what might be - no point in his opinion. It's infuriating but at the same time can be quite reassuring that he's so rock-like when it comes to any potential cause for concern (not that I have anything to worry about in the general scheme of things).

Original poster
EmkanaCookTurkeyLikeICan · 09/12/2006 22:37

Thanks for posting.

It was in January that we were first told something was wrong, but not sure what.

So we're getting near to a year of uncertainty...
it would be nice, but also very scary, to know for definite.

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Original poster
EmkanaCookTurkeyLikeICan · 10/12/2006 15:13

Have now had a major fall-out with dh...
good distraction I guess

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Original poster
EmkanaCookTurkeyLikeICan · 10/12/2006 16:47

Well don't mind me...

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whatwouldjesusdo · 10/12/2006 20:13

oh no emkana it really is not getting any better at the moment, is it?
Hope you can get some more information on Monday. Even if the geneticist cant give a definite diagnosis, they could surely clarify the information about the symptoms of Jeunes?
It doesnt help having to deal with all this in a foreign language, although your English is so good.

tribpot · 10/12/2006 20:28

em - not surprised re: falling out with dh, this is just such a colossal strain on you both, and your dh is naturally wanting to do the guy thing of "not see the problem until it is defined" - so the whole weight crashes down on you.

I think it is highly likely you won't get the answers you seek tomorrow - because I know how the health service works (not dissing the NHS, let's call it knowing how medicine works). There are no easy answers, there is no "hurrah, I forgot but actually this dose of x is all you need". It is a long, hard slog and there is no end.

So: yay me for the Christmas message of joy. This is how it is, in the world of the chronic condition. And I do not compare my situation to yours, because it's my dh who is ill (and not life-threateningly) not my ds. I would be quite frankly insane in your shoes.

All I can bring is sympathy, and hope that tomorrow brings good news in some shape or form.

And bero/FIT (now am confused it's that way round) : greetings.

singersgirl · 10/12/2006 21:16

Giving you positive thoughts for your meeting tomorrow. Let's hope the geneticist is as constructive and helpful as the chest expert. Have you made up with DH yet?

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