Seeing geneticist today.....

[mummyto2miracles]

Well seeing geneticist today

My Ds1 Jack 23 mnths has a genetic disorder with no name, consultant has said that it may never have a name

But I am afraid tht me n dp will go today and they will give us a name and it's a really horrible disorder or something

Or they will know a lot more about his future etc

So worked up..not til 4pm

Jack has severe epilepsy, hypotonia(low muscle tone) an hypermobile joints, damage to left and right temporal lobes in brain
and global devlopment delay

Altho recently he has started trying to talk "DAD DAD" and " Again" and lot of noises, bn sitting from 19 mnths and bn fitted nw for piedro boots to help him stand then walk, hopefully that happens soon

I also have a Dd,7 (previous relationship)
who is perfectly healthy, but to my dp, I have had 2 miscarriages, then Jack and anothr miscarriage so we are also going to gneticist to find out about the miscariages etc

Can't offer any advice but sending big hugs. Horrible having to wait until 4. If I were you I'd rather have all the information then at least you know what you are up against.

Yeah yr right, ad rather knw too, but scared stiff

all the best x are you expecting any results from blood tests?

I have a chromosome translocation that is reason behind my dds probs and for my reacurrent mc. Though I think I remember yr ds's chromo results came back ok?

Hope it goes well for you. I actually felt better in a wierd sort of way once I knew what was going on.

Hey yeah our chromosomes cme bk ok, but dunno if its somethin way dwn line etc,just wanna mke sure iykwim?

Want to know chances of it happeneing again etc for future kids and if thre is more info on the condition

Jack's chromosomes came bk abnormal pixiemason, during conception cromosome 6 attched itself to chromosome 12 and wen tht happened chromosome 6 lost some of it's qualities ie...jack's probs, but mine n dp's came bk ok

No words of advice, but just wanted to wish you good luck for this afternoon x

Thanku

everyone, more scared nw, sure a will be ok

How did it go today? xx

Everything went brilliant!!!

Confusing but went good

Jack has a duplication of chromosome 6 and somethin with chromosome 12, gettin a letter all about it soon

The geneticist said Jack is remarkably well considering lookin at his chromosomes

His life expectancy will be same as anyone, but obv being an epileptic it can b somewhat reduced, because of seizures, always a risk

And he said usually with genetic disorders there are some tell tale signs, ie facial features etc, but gneticist sed Jack just looks like any other wee boy

But the best bit was that he says my miscarriages are not related to Jack's condition in any way...just bn unlucky losing the babies, and Jack having this condition is a one off too!!

Sed if we try again
then less than 1% chnce it ever happenin again so we are over the moon

Sed wn I do fall preg agan there are tests (amniocentesis)for genetic/chromo disorders etc but chance of miscarriage, and told me not much point having tests as I said I would nvr terminate anyway

glad it all went well. What a great relief for you all x

yay! its fantastic to have 'good news', good luck and babydust!

I know!! I am walking on air!!

I am just used to "bad news" usually lol

So it ws a major shock to be told this, a

brilliant shock tho

glad the appointment went well, and the doc was so positive about future pgs.

Lovely to hear, you must be so relieved

That's really good news. Couldn't have gone better!!

Glad to hear it went so well

Woohoo. So pleased for you.

Yeah, thanks guys!!!

Soo happy, want another bby as soon as, but just don't want Jack's needs t be put in back burner....

Mite strt a new thread bout tht actually

Thinkin of throwin pill away