Anyone had a genetic appointment? I need advise!

[aintnoangel]

HI.

Ive lurked here for a while but never posted but right now I could could with some of your knowledge. My dd has a chromosome abnormality which has resulted in severe developmental delay plus many other associated problems. myself and my dp were always told that this was a 'sporadic' occurance and our chance of having another with the same problem was no greater tha any other couple.

We received an apointment for the genetics service today and I wanted to know what exactly it is they do as were been told that it is not something passed on by either of us. Has anyone attended an appointment with the genetic service? and if so what does it entail?

I also have a deeper fear in that there is a very small chance that my dp may not be my dd biological father. During a short split I ended up sleeping with someone else and I never told him because I knew how hurt he would be and Im concenred that if they take mine and my dp blood then may mnay discover that he is not the biological father- do you know if this is something that they test for? could they discover it by accident.

Im terrified.

How old is your DD? My DD who's 6 has a unknown genetic syndrome passed down from myself and husband- or so the genetists think.
Have since had a perfectly healthy DS.
At a genetic clinic, in the beginning they take bloods from both parents and child and send them for all different tests. They also try find out as much about family history as possible. Hope you are ok and if you want anymore info just ask. Would write more but DS son is bouncy away on my knee making me rush.

My dd's condition has a name and Ive spoken with many other parents who said that they didnt bother with genetic testing and have had healthy children since......I would like to know that me and my sp are ok to go on and have children but scared they wll find something about the paternity.

My mums thinks im nuts and just driving mysel silly for no reason but its olways going to be at the back of my mind.

I can't tell you whether they would tell you if dp was the biological father or not? We were told we had a 1 in 4 chance of it happening again. I do feel for you to be this situation.

hi
aintnoangel, would you mind describing your childs condition please?

hi

the reason i asked was that we have our ds, 7 weeks now on a ventilator, he cant do without and they thought it was genetic but it isnt.its related to connections between brain and nerves that form movements between limbs. so, at the moment he is bed ridden

we are going to be offered genetic counselling and to be honest havent got a clue what that means

Hello

MY dd also has a chromosome abnormality. We still have genetic counselling every year (around the time of our daughter's birthday).

When her chromosome abnormality was first detected when she was 6 weeks old, my dh and I had blood taken. This was to see if the condition was inherited. They also took some family history from us - my mother had had a sb and a late mc, I had had a mc prior to my dd. It wasn't really an enourmous suprise to find out that it was inherited - I have a balanced translocation - bits of two of my chromosomes have broken off and swapped over. In the egg that became my dd (!) there is a loss of material on chromosome 5p and in its place is extra material from chromosome 14. Thus she has an unbalanced form of my translocation - she got one of the affected chromosomes but not the other, consequently has a duplication and deletion of genetic material.

Before our results, I read there was a 5 - 10% chance of it being inherited disorder. These are the odds usually given as most occurances are sporadic.

Balanced translocations are the most common reason for inherited chromosome abnormalities. If this is ruled out in your case, there will be only a very very small risk of re-accurance in pregnancies. In a few cases; chromosome abnormalities in a child arise because of gonadal mosaicism (where basically, a parent is affected by the same chromosome abnormality but only on their reproductive genes)

I hope your appointment goes well. They may also give you some more information about your daughter's condition - esp given that it is a named syndrome. Though if it is anything like our GC meetings, they can't really tell us much other than wait and see. Most syndromes are highly variable; thus it is difficult to predict the degree to which someone will be affected.

Please don't worry about the tests revealing adverse paternity results. I'm sure all they will be checking is to see if you or your partner have an unusual chromosome arrangement (karyotype)

HTH - sorry to have gone on a bit.

probably not much help but we met with the genetic service as we where concerned about having another ds has asd

what happened was they took blood from ds and tested his chromosones and they took a detailed family history from us so they could give us a percentage risk of our next child having asd

hope that was some help

Thankyou all for your info and advise. ejb you were very helpful with your detailed account.

I feel slightly less concnered now. thanks