Genetic testing

[Lhmym]

Long story but here goes my now 6 year old as been under pediatrics since he was 3 lots of sensory issues lac of concerntration has to have 1 to 1 can not keep still figets ect he's pediatric wants him to have genetic testing as she says space between eyes is wide and low set ears and rounded jaw line but when she mentioned doing the genetic testing she said some times we pick up stuff we ain't looking for like cancers now that's now got me driving my self up the wall as my Nana' had cancer and so did my grandad when thay was in 60s I feel like s#** she did said she kept looking at me and dad looking at our face features to see if we had the wide space between eyes and low set ears and rounded face at bottom but she says we don't can not stop over thinking

Bump

Or like with my dd they pick up nothing and still have no idea.

Just remember, the genetic testing won’t give your child cancer, by the sounds of it it might possibly pick up cancer which is already there, which can only be a good thing surely? As then they would get treatment sooner.

we considered genetic testing for our daughter due to some heart abnormalities discovered antenatally. In the end we were advised not to (beyond confirming it wasn’t downs/edwards/pataus) as there’s so many unknowns with genetics they might well find ‘something’ unusual but have no idea what it was or what it meant (it may mean nothing), which would likely cause us anxiety for no gain. At the time our daughter was a newborn so we were advised to leave it and only pursue it if we noticed developmental issues. It sounds like potentially that’s where you are, so it may be of benefit to you. If they can find out what is wrong they may be able to suggest treatments.

good luck with it all whatever you decide.

Hi,
My young one has had genetic testing (bloods taken at the hospital). It was some months ago but no results have come through yet.

I'm not sure how I'll feel when we get the results.

If the results show no issues will we think his issues must be our fault? Although I think understanding of the genome evolves all the time and that no findings are common (I think)

If a certain issue is found and it tends to result in a lot of limitations will we have to get our head around having a child that will always be dependent, even as an adult, more quickly than if we just go with the flow?

I think overall I went for the testing because with our child's presentation when well meaning people say "is it because you do everything for him so he doesn't need to talk" etc etc I might feel better knowing "no - it's because he has a genetic condition" but nothing about it is easy.

I think the Doctor might have scared you unnecessarily talking about cancer without any reason to believe your child would be affected by it in the short term.

I would try to put all of it to the back of your mind until you know what the results are. That's what I'm doing and whatever the results are I think they will be a shock.

my daughter has had two rounds of NHS genetic testing, the first looking for five specific gene mutations, all clear, and the second was full genomic sequencing.

No answers, so will just have to wait for medical science to catch up!

I’ve had genetic testing for breast cancer (mum was BRCA2, I’m clear) and my dad had lymphoma in his 30s. Neither are connected to my daughter’s illness (which is a rare haematological syndrome) as far as current medical knowledge can tell.

Genetic testing is just a blood test for your little and if they are doing the full genome or exome version they will want a blood sample from both parents too (my sample was already on record due to previous BRCA tests so only her dad needed to do it on the day).

Try not to worry - the tests are only for additional knowledge with the aim of helping look after your son in a more tailored way.

Be prepared for the results to take ages to come back (it was described to me as ‘like looking for a single spelling mistake in a giant copy of the yellow pages’) and even if something is flagged as unusual it may not say anything conclusive about your son’s condition.

Thanks all for messages I'm a proper worrier and hopefully all will be okay hope you all have a lovely Christmas and all best for 2023 😘

@MCbadgelore think he's pediatric said it's the micro array test

Here’s the leaflet on the Microarray test from the hospital that did both my BRCA and my daughter’s full genome sequencing (St Mary’s Manchester):

www.mangen.co.uk/wp-content/uploads/2020/09/Microarray-leaflet-July-2020.pdf

I found the genetics process to be quite calm and reassuring, with lots of explanations given along the way.

At one appointment my daughter’s dad and I were asked if we were relatives (because consanguinity is a risk factor for some genetic conditions) I made a joke about both being ginger that resulted in a very awkward silence 🤣

Try not panic and enjoy your Xmas - whatever the tests do or don’t show up, your son is still the exact same gorgeous boy he always has been ❤️

everything crossed for you xx

4 of my 5 dc had the micro array test. Dc3's came back with "a variation of normal", whatever that means and dc2, dc4 and dc5's came back clear. Dc4, dh and I later took part in the DDD study which is a more detailed genetic test. That came back with 2 genetic issues but they don't know what either of them really mean.

@MCbadgelore that made me laught about both being ginger lol 🤣 and thanks for info much appreciated

You can opt out of the illness part oh generic testing .. they are looking for known syndromes

Genetic .. I mean you can opt out if knowing .. we did

Hi, just jumping on here as I just wondered if you have had the testing done and had the results? My little boys has exactly the same facial features and is extremely hyperactive. We have been referred for genetic testing at St George’s just waiting for the appointment.

thank you!