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?

yeah shall wait and see results will not be till the earliest at least March.

And he wont agree i know becuase his sister has a son with some mild learning diffculties that no one admits to and of course its all my fault anyway

hi fanjo

sorry you are having such a long wait. we're still waiting for an appointment with metabolic and genetic specialists.

general paed does think there is something worth investigating given slowing of development and poor growth and fatigue. ds has dx of gdd with v likely asd.

we did get one more of piece of the jigsaw puzzle recently when he was dx with absence seizures.

will keep an eye out for more news.

x

Waiting is awful isn't it!

On the upside, DD is getting slightly more speech and is becoming much more sociable and interactive (and a wee madam) which is nice!

Have they said how long it will take to get the results?

Up to 6 months, was 6 for the last microarray, so 3 months to go!

yes 6 months minimum for the microarray.It would not change who ds is but would be nice to have a name for it and when dealing with proffesionals it is easier to give a name of something rather than a list of problems/symptons

yes I feel exactly the same!