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Genetic Testing

Julie1981

Hello

My son has just had the medical assessment at the end of January, they took bloods for genetic testing and they told us it could be months before we had the results! I just wondered what other people’s experience of genetic testing has been?

I feel on tenter hooks and anxious waiting for these results. How did you make you the time go by without thinking about it everyday??

Thanks

Julie

  • in reply to Julie1981

    Aw I hope you get some answers and some support for him soon Slight smile

  • in reply to Kitsune

    No the waiting is the worst part but it does help me to process each stage of what’s happening. My little boy is 3 in April. We’ve been under Child Development Centre since he was just over 2 because I pushed my concerns. I’ve known he was different since about 10 months old it just became more apparent from 18mths onwards. He doesn’t speak at all, he stimms quite badly depending if it’s a good or bad day. He walks on his tip toes only recently he’s started to line up his toys. When I used to take him to playgroup he just stood out as to how different he was, he always wanted to be in the corner on his own there are endless symptoms but they change it seems weekly x

  • in reply to Julie1981

    Thank you for replying. My daughter has a lot of delays, I initially thought she might be autistic (I have Aspergers) but some of the more autistic-like behaviour seems to have rectified itself and I’ve noticed she has certain physical facial dysmorphology such as epicanthic folds on the eyes which in Caucasian people is usually a sign of chromosomal abnormality. I’ve done A LOT of research into a few of the more likely candidates (genetic disorders), though I’ve made myself stop researching now before I drive myself mad! However,  I think genetic testing is sensible given the presenting symptoms and the facial dysmorphology. I’m also going to ask for MRI scan and ASD assessment (just in case). Poor paediatrician won’t know what’s hit him! I thought that the genetic testing probably did involve a blood test but thought I’d ask you as you’ve been through the experience. Hopefully they’ll be a bit quicker than a few months. You’re lucky actually as I’ve been told it can take a few years in my area. Still not nice having to wait for results though! How old is your son and what symptoms is he showing?

  • in reply to Kitsune

    Hi

    Of course not anything to help I know I appreciate any help I can get so I certainly don’t mind giving it. 

    My son had bloods taken which wasn’t nice to see but they let him have magic cream on (numbing cream) first before they did it. They are apparently ruling out other things but the paediatrician didn’t explain what, I guess not to worry us more than necessary, they are testing for Fragile X Syndrome which I’ve been told is a standard test they do and any chromosome abnormalities. 

    They kept it pretty vague in the medical assessment and just told us we would hear from them when the paediatrician has the results which could be a few months. 

    Julie x

  • Hi there, I’m actually just about to ask for genetic testing when my 23 month old has her review with the paediatrician on the 25th of this month. Do you mind me asking what is involved? Thanks