confused by genetics letter

[fanjoforthemammaries7850]

Just got a letter asking DH and I to arrange an appointment to have blood tests as DD's chromosomal microarray has shown 2 areas of abnormal signal.

They said they want to see whether they are variations in the family or unique to her.

Now, what I don't know is, are they saying these ARE the cause of her issues or are they only going to be the cause if we don't have them as some "normal" deviation from standard.

DH thinks she said at the appt that we all have areas of abnormality but I can't remember - does anyone know?

also the letter showed the metabolic tests they are still waiting for results for and they are the nasty very progressive fatal ones, so now we are worried yet again after having the all clear before.

Hi,

Not sure if it helps but Luuk's icro array did find something ( duplication on 7p15) but they said it had nothing to do with his condition because my hubby had it too and he was ok ( matter of opinion )
xx

Thanks. That is what i thought, it's all just a bit confusing.

Am probably hoping it IS something chromosomal as at least that wouldn't be progressive, all the other things they are looking for are progressive.

Hi - me again! It sounds like you are having a horrible time. I can't answer your question but just wanted to send some support as we wait for our dreaded envelopes to arrive. Let me know how you get on x

This envelope was very cruel as it was like a parcel, I thought it was a late birthday present for DD, then it was the blood test kit!!

Hey there, this is exactly what happened to us. DS had a duplicate gene and they didn't know whether it was causing his problems (inability to swallow).

DH and I were tested and it turned out DH has the duplicate gene too. As DH can swallow fine, we know that this isn't the cause of the problem. There are some natural variations around that have no affect at all on people.

After that they carried on looking at DS' samples and found he had another gene missing but one that DH and I both have. They therefore think, although don't know for sure that this is the cause.

Sorry to ramble, but hope it makes sense.

It does, thanks.

I know nothing from experience about chromosomal and genetic stuff, but i've recntly watched an interesting programme on tv about the human genome (sp?) and i recall there were saying every person has abnormalities of some sort to their genetic make up.

And it varies a lot betwwen people, some have more than others ... i remmber they said other factors such as how the genes interact betwwen each other and outside factors are involved too.

All complicated stuff!

Oh and fanjo I'm so sorry, I didn't read your later posts. It must be such a difficult time and genetics being stupidly complicated and tests taking so long every time don't help do they. It's bloody tough, I'll say hang in there, but I know you don't have any choice in that x

That is interesting! Our blood tests are next Thursday..will be interesting as I am almost impossible to get blood from!

Smallmonkfish - thanks, the tests have been going on for 18 months, it's been awful..

I just had that post deleted as it had something on it I didn't want anyone I knew to read..it did say that the neuro said her normal MRI made the nasty metabolic conditions unlikely, for anyone who missed it, which is reassuring I suppose.

I don't mind anyone reading THAT bit of the post!

Sorry too Fango, have only read your 1st post when i replied hence i grin smiley.

I hope you get to the bottom of this soon, with some good news too.

Ah don't worry, I need all the grins I can get

And gins

Yes, I think that if there are 2 areas of abnormalilty in your DD, and you don't show the same abnormality, then it might be significant.

If one of you shows the abnormality, then it can't be the cause of the issues she has.

I presume if they don't find them in you or your DH, then they might need to investigate further, or wait until they know more about the function of that gene set.

2 areas to me sounds like one might be innocuous and one not...but I don't know, really, suppose it's just a waiting game again.

How is your DD, lougle?

Fanjo Just wondered if you knew any more yet?

We had the same experience.. a chromosome abnormality was found on the CGH array..but one of us had it too, so it didn't explain my DS2's disabilities. I felt oddly disappointed as it would have been 'nice' to have an answer.

Good luck, I hope it brings answers for you!!

No, nothing, DD was ill so her neurology appointment on Glasgow, for a second opinion, was postponed. Nothing back from Genetics yet either.

fanjo i was warned if they find something in ds microarray they will need to test me and xh though i dont think he will agree even if i can find him

But genetics are pretty sure there going to find something as apparetnley ds has to many markers

They have taken blood from DH and I, as they found two abnormalities in Dd's microarray, we are still waiting for results!

Sorry to hear you have to depend on exh though!