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SN children

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Original poster

blood test for genetics this week

14 replies

pedalpants · 20/06/2011 11:25

anyone else had this? DS is 3 and has minimal problems but got on the list for tests because of seizures and a family history (not us, grandparents). What they are looking for is so rare it is just numbers and could indicate a range of difficulties from nothing (here's hoping) to major problems later in life (wheelchair, psychiatric troubles etc.)

I'm so numb about this I don't know what to feel.

results in a month or so.

anyone else been through this or similar? DH is very focused on the test itself which he is worried will be traumatic. again, i have no idea how it will go.

OP posts:

1980Sport · 20/06/2011 12:02

Taking the blood won't be pleasant but hopefully it wont be traumatic! The nurses should numb your DS's hands with some magic cream - this takes about 30-40 mins. Two nurses will normally take the blood using a very fine needle - it shouldnt hurt because of the cream but he mightn't like being held still. Lots of distraction is probably best, sometimes there's a play assistant on hand to help out but usually the room has lots of pictures toys etc. He'll forget fairly quickly - the waiting for the results is the worst! If he has a big drink before hand it might be easier to get the blood from him. Good luck.

Original poster

pedalpants · 20/06/2011 17:27

Thanks, will definitely try the drink thing, had not thought of that. Magic cream sounds good. Poor thing. Not sure what to tell him about why we are going to the hospital. My 5 yo DD is bound to start asking questions as well.

can of worms. :(

OP posts:

unpa1dcar3r · 20/06/2011 21:05

Hi Pedalpants
My elder DS was tested for about 7 different things aged just turned 2. He came back positive for Fragile X Syndrome. Then younger DS had to be tested as a matter of course and because he too wasn't reaching his milestones and he came back positive too. BUt he was only 10 months old at testing time.
I vaguely remember holding elder DS on my lap tightly and distracting him with a book while they took 7 lots of bloody. Younger sonw as only a baby so a bit different plus they only tested for FXS.
Your son will be fine, they will numb his arm first and you can give him a biscuit or something while they're doing it. It's a bit like when thney have their baby jabs I suppose.
Good luck and try not to worry too much or he may pick up on your anxiety.

Original poster

pedalpants · 21/06/2011 12:03

HI thanks,

1980 and unpaidcarer - how did you get the results? did you get them through the post or did they call you in to discuss them? did you know about fragile X before you had the test? Was it a surprise or did you know already what the result was likely to be? Did you have genetic counselling and if so, what is it? I think I know the test result already but it is still a horrible thing to be going through.

i have 2 children and my 5yo DD may also have the defective gene (non symptomatic or just a carrier) but no-one has offered to test her. Probably wouldn't want to know to be honest as I feel I've got enough to deal with. :(

OP posts:

fanjoforthemammaries7850 · 21/06/2011 12:07

My DD smiled during test and didn't bat eyelid, they are very experienced.

Original poster

pedalpants · 21/06/2011 15:36

yes, I'm thinking a liberal supply of choc buttons may help..

OP posts:

fanjoforthemammaries7850 · 21/06/2011 15:45

Unbelievably they just wrote to us with results then saw us 7 weeks later

Original poster

pedalpants · 21/06/2011 16:00

that sounds a bit rubbish, was it? seven weeks is a long time. but i guess depending on the dx there's not a huge amount they can say when they see you anyway. in DS case there is a huge amount of variation in how the condition presents itself (variable penetration? i think is one of the terms!) and not a huge amount is known about it anyway.

in fact I've been on google so much I think I am now the world leading expert in his condition... (my GP and Paed never heard of it )

OP posts:

unpa1dcar3r · 21/06/2011 17:52

Hi Pedalpants
No I'd never heard of it! I didn't even know eldest was being tested for it. I got a short terse 4 line letter thru the post from my local hospital one saturday morning telling me my son had a condition called Fragile X Syndrome and that we were being referred to Guys hosp. We didn't know if it was life threatening or anything. No internet in those days for us so I was just in shock.

Upon ringing Guys genetics dept on the mon I spoke to the most amazing geneticist who could not beleive the way we had been informed and promised to get us in asap which he did (by the following friday) and explained what it was etc and that judging by what he'd seen of our son, he would be severely affected.
Getting younger DS tested was a matter of course but to be honest, I did want to get my daughters tested. They refused at first as they said about their rights blahdeblah but I insisted as I wanted to know if they would be carriers. If they would've been they would've had a 90% chance of having a child like their brothers so it was important to know.
Luckily they were both clear but the results took 6 months!

Original poster

pedalpants · 21/06/2011 20:52

unpaidcarer - I can't believe the way you were informed! i think the internet has changed things a lot. When the neurologist told us what he thought it might be, he virtually told me how to interpret the google results! so glad your girls are clear. i don't think i'll find out about DD even if they give us the choice. i wouldn't want to put any potential suitors off and I think it often skips a generation anyway!

OP posts:

1980Sport · 21/06/2011 22:51

Hi pedal - we've either been called in or phoned with our results. Each result had usually taken about 3 months, Fragile X was the second test my DS had done after muscular dystrophy. I had only heard of it from googling developmental delays very early on.

We haven't had any genetic counselling but we may ask for some as we would like another child at some stage in the future. The charity Unique might be of help to you - they provide support and information on rare chromosomal disorders. Have you had an appointment with a geneticist yet? He/she will be able to explain inherited and de novo conditions, Uniques little yellow book is also very helpful.

unpa1dcar3r · 22/06/2011 03:27

Hi Sport
Do your children have FXS?
If so do you belong to the FX society?

Original poster

pedalpants · 22/06/2011 21:09

Thanks so much, had not heard of Unique.

blood test total disaster. first nurse could not find vein anywhere despite repeated probing. DS unhappy but not overly distressed. then we had a break in playroom whilst they got someone else. second doctor did find vein, eventually, but the blood was pumping so slow she got a fraciton of what is actually needed for the test before the blood clotted. it can't be used at all. the offered us another break before a third person had a go (registrar no less!) but DS by then sobbing great heaving sobs, so I declined.

am really shaken and not sure where I go from here. I'm going to suggest they test me as I think I'm the carrier but don't know if they'll go with this.

it's an expensive test and I don't want to lose our opportunity to have it done but not sure if i can put him through it again.

OP posts:

unpa1dcar3r · 22/06/2011 21:24

Oh damn Pedal what a nightmare for you and your little boy...enough to put him off for life bless him.
The only way they can do it now is to give him a pre-med (they've done this for my older DS before when he was only about 3 so it can be done)
Maybe give you something to give him before you take him back again.

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