Opinions on genetic testing

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Good morning all. As part of investigating my child's epilepsy we have been offered genetic testing. We've had the mri and the eeg and this is the remaining test before meds are offered.

Initially I said yes and signed the papers , but am now feeling uneasy about it. I'll be honest and say that I can't pinpoint why. It's partially to do with feeling like it's more to do with the consultant wanting to record research , which is valid but putting my autistic and anxious child through a blood test is a lot and the fall out and change in behaviour after such an appointment is huge.

As mentioned above my child is autistic and has significant LD , so the process may be of benefit, but the closer we come to the appointment the more I feel resistance.

Can anyone offer their personal experience of the process with as much detail as your prepared to offer on a public forum. I feel like I have no one to talk this over with and it's hard to verbalise and clarify my feelings.

I cannot comment on epilepsy as that’s not my field at all but I work in research and we find that genetic testing can tell us so much more about the diagnosis and prognosis of the condition and it’s usually done by a simple cheek swab we only have to do a blood draw in certain conditions to show the pattern of inheritance- also even if it is done for research purposes it will be helping the understanding of the disease and maybe helping move forward treatments for the condition so that is a positive thing for all suffering from the condition

Hi, geneticist here. I am not certain what testing is being done on your child but it is likely to be diagnostic rather than research. Were you offered a microarray or whole genome sequencing or both?

What genetics are they testing for OP?
Where is the blood test being done? Generally, its at a paediatric phlebotomy clinic but might be elsewhere. Its normal for emla cream to be applied beforehand. This is a local anaesthetic cream which numbs the skin. Its used before cannulation, blood tests and piercings- and especially used on children.

Generally, they'll put a pea sized blob in the skin where they will take the blood test from, apply a clear, plastic dressing over the top and leave it an hour to absorb. The white cream, slowly absorbs and any residue is more like a clear, jelly which will be wiped off.

I'd raise your concerns with them and ask about the blood test. They might apply the cream, then you return in an hour (it remains numb for up to 4hrs though). You could go for a walk, have lunch or go elsewhere if sitting in the clinic would be too stressful. You can also buy the cream online/from pharmacies. They are also sell patches, where you simply peel off the back and stick on- but you'd need to know where they will take blood from. They can also be used for vaccinations, but they are normally given on the outside of the thigh or upper arm, depending on the childs age.

Edited to actually answer your question.
If you have concerns/worries about the test, write them out and ask the medical team.

If there is a genetic component, there might be support groups you could get help from/talk to.

You might know whether there is a risk of future children also having the same issue. Also, whether your own children might pass this on to future off spring. There might be additional funding for a specific disorder.

There might be specific treatments/meds/physio etc which might help if there is a diagnosis.

I'll try to answer as many questions as I can. I can't remember exactly what was offered , but my husband and I are being tested too and it'll definitely be a blood test.

The numbing cream probably won't help as my son won't tolerate most medical examinations unless he's sedated or held down. He was to be held down by 4 people when they last took blood.

Iirc the consultant mentioned something about there being research into an autism gene and he asked for permission for any results to be shared. He also mentioned that some things can possibly be medicated , but obviously he couldn't be specific. The main thing that was explained was that it'll give us an idea about what the future looks like. And I think this is where I struggle to give permission for these tests , we already know that at 7 , he can do very little independently and that will most likely have high care needs for the rest of his life. I guess I'm not sure how much more we need to know. And how helpful that can be.

My husband says we should go for it , I'm on the fence for the above reasons , but also because my son has so many appointments and it often stops us from enjoying him. I often feel like most of our outings are to the hospital , which is depressing. He's generally a happy playful kid and he brings lots of joy to our lives and that needs to be a focus as well as looking after his health.

Thank you for all of your responses , I would like to hear from other parents that have been through similar also , but don't know where to find these people. Any suggestions would be really helpful.

I think you are very sensible to weigh up the benefits and disadvantages. Does your son have general anaesthetics ever for monitoring? My son needs regular blood tests and we just get them done while he is under anaesthetic now for his annual MRI.
Before that, we used to contact PALs before hospital visits and they would sort out extra support for things like blood tests. We have had a play specialist, separate waiting room, sensory toys, a buzzy thing, a karaoke machine, videos, several nurses and a butterfly needle rather than a large one and once I think they took blood via a finger prick. Lots of options but I think would would be totally within your rights to say no, or to get a blood sample form and keep it for a later time when it feels like you have more headspace.

Benefits of testing could be that if the ASD and epilepsy are part of a genetic syndrome, there is a small chance that there could be a treatment for it, you would be able to test any future pregnancies, so you would know in advance, other organs could also be involved and they could be monitored if needed. There could be a trigger for the seizures which you could work to minimise.

None of these are urgent though, so a test in 2 years would still be as good as doing one now.

@Geneticsbunny those are all really good points to consider. We believe the trigger for seizures is lack of sleep but I agree that it would be good to know long term.

I won't be having any more children. I have 3 , my other 2 children are with exh and have none of the symptoms/behaviours that my youngest child does.

I can only speak from personal experience but I really wanted genetic test for my ds so we could find out more about him.

It didn't change his diagnosis but we found a gene deletion which possibly explains some of the way he presents.

I have three dc with autism and other issues (diabetes, hyperthyroidism, LD, epilepsy, adhd) but my middle child is so much more affected and I wanted to know why.

We are carrying on with the process and he is having further genetic testing because we are all keen to see where it leads.

The blood test was difficult but that has been the only negative so far.

The best way I can explain it is I felt like there was more to understand about my son and genetic testing was the best way to find out.

Yes I'd go for it. Knowledge is power. In our situation my kids are being tested as it's vital we know whether they have inherited something from my husband (cardiac syndrome that can result in spontaneous cardiac arrest triggered by things like getting a temperature).

It's awful having to test but on the flip side knowing one way or the other will assist. This all came to light when my husband had a cardiac arrest in the middle of the night and by some miracle I woke up and paramedics arrived within 8 mins. He had no idea he had the defective gene.

Our son (8) sounds very similar to yours, ASD and LD, compeltely non verbal alao. He had genetic testing, multiple actually but the last one was a full array test and my blood and my husbands taken also.
The blood test was taken with our son cuddling me backwards in a firm hold so they could get to his arm he won't tolerate creams or film to hold the elma numbing solution, it's very quick and he is happy once we have left the ward and had his tablet and favourite snack to help regulate him afterwards.

We have delayed medical decisions in the past due to concerns about the pay off vs the possible trauma but I think a blood test is so quick and short lived, we can cope with the aftermath because we are used to his reactions so it doesn't feel so questionable.

In your shoes, if my son was having seizures I would want to know more about why and what kind of treatments could be on the table from this knowledge.

I’ve been through genetic testing with my son for a genetic sight condition. We knew his condition and the name of the faulty gene as myself and other family members had already been tested. There’s currently no cure for the condition but plenty of research treatments so getting an official diagnosis on file was really important to ensure he’s identified as a potential patient as/when suitable trials arise.
He’s been tested twice, once as part of a research study via the pharmaceutical company and the second time at a NHS genetics clinic, one was a cheek swab and the other was via collection of a lot of saliva!

If there is a genetic element or potential for this to be the case, I would try and get the test done. It really does give options if new treatments are identified. Good luck whatever you decide.

We had testing because of seizures because of the age they began (as a baby). The consultant was concerned that some of the more sever genetic epilepsy conditions present at the same age and it was important to begin appropriate medication. Luckily our worst case scenario was ruled out but a deletion was discovered which explained the seizures. Knowing this has been largely unhelpful, I read about a wide range of potential issues associated with this deletion and it would seem that my child is largely unaffected by most of these issues. I have spent many years worrying about milestones and development and feeling anxious about it all.

Thank you so much for sharing your experiences. I have a lot to think about , but I think I've decided what's right for my son now.

I think the reason I've been struggling with this so much is because I'm so bloody exhausted. I'm sure I don't need to explain to those of you that are parents to sen children or those with complex health needs why that is or what it feels like.

I've found some clarity today after reading your responses and receiving a few pms from other parents.