Maybe genetic testing. I have things 'wrong' with me that have a 50% chance of passing on to kids if I had them. Luckily for me I've never had the urge to create any, so it's not a thing I've ever had done. Even though Dr's have asked me about it.
If I was you I'd go to my GP and explain about your family history and hopefully you'll get a referral.
You d be looking at private GP, gynecology and maybe genetics.
But just to say your child could be disabled even if you were very healthy and genetic tests found nothing, my dad died in his 30s from marfans syndrome which I fortunately didn't inherit so I do get how you feel.
Then our 5 year old son is non verbal autistic and likely learning disabled and very unlikely to ever be fully independent, the NHS won't give him genetic tests as he's no physical concerning features but theres so many mutations for disabilities they can't rule out everything for sure as we haven't found it yet or sometimes things just happen in birth like prematurity or HIE etc, so it's a case of knowing it's a roll of the dice anyway.
Yes it was something to make peace with for me, that his death didn't have to happen if anyone had ever noticed his many features beforehand. Although it was 2004 and I believe the awareness on it has been a lot more wide spread since then.
Sorry to hijack but does your son not meet the testing criteria for R27 whole genome sequencing under “moderate - severe intellectual disability”? https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/r27-paediatric-disorders/
We re in a bureractic problem where our ICB doesn't do cognitive assessments so he doesn't have his LD diagnosis yet and he has no diamorphism. Until recently with a weight stall he was always in the right range growth wise so they ve refused to fund any genetic testing.
Do you have a community paediatrician? Even moderate developmental delay is a criteria- sorry assuming you’re in England as things differ in the other nations.
Yes we're in Lancashire :)
Community paeds have just discharged him after we got a stable melatonin dose , he's been seen by two and both said no. He's not due to be seen until year 6 as it stands for his transition appointment for swapping to a different SEN school for high school.
One of them is the clinical director for the department, it's all about money sadly even been told he's probably got arfid as of a couple of weeks back but "there's no pathway for it, until he's underweight we can't do anything".
Honestly we aren't having more children due to his needs, so although it would have been good to have an answer of sorts it's something we have peace with not knowing. Still fighting everyone I can otherwise though, never ends 😂
Oh it's ok, we don't even have a SALT on the NHS whereas 30 miles down the road he would. They re not following plenty of NHS or NICE guidelines here in the name of resource shortages. Thankfully I won the SEN school battle where others wouldn't have been so lucky so very grateful for that.
Wow- it’s a shambles really isn’t it. It’s so important for early intervention but the waiting lists or hoops you have to jump through are so prohibitive. Wishing you little one all the best at school!
I think it depends what your parents died from. If it was something which could be passed on, it’s definitely worth checking. If it’s a heart attack or something more random then you may be slightly more predisposed to it if you have a heart condition but it may be influenced by lifestyle. There are health checks available from private providers but I don’t think they would do specific tests. Best thing to do is call a few companies and ask.
You can go to your regular GP. They may refer you to gynae, but as there doesn’t seem to be concerns in that area, maybe not, but they are who does pre pregnancy assessments for those who need it. They can then refer for other things.
I did this when thinking about kids with a new partner, there were health concerns for me and genetic concerns for both of us. They put our mind at rest on the genetics (disorders in the same category, but no risk of them combining to create something worse), referred me for cardiac checks.
They might test bloods but so much can happen in pregnancy and postpartum that there's some stuff they can't possibly predict. I was fit and healthy at 23 and had a kid and developed a host of autoimmune disorders from the stress pregnancy puts on the body
Have a conversation with your GP. Does anything run your family? The gene that causes breast & ovarian cancer runs in my family and I was able to get tested for the gene. Luckily, I don’t carry it!
This is perfectly reasonable, I think start with your GP but in my area there are private GP surgeries in most towns and villages where you can just make an appointment and pay upfront without needing private medical insurance. I just did a quick search online for uk private genetic testing and quite a few clinics popped up that offer it.
Also I regularly get private well woman blood tests done, these might be a good idea before pregnancy because it’s very thorough. Like you I was cautious before pregnancy and I even got an MMR booster. Also with my last pregnancy I got a NIPT test and would recommend this even though it was quite expensive.
You should definitely chat to your GP. My husband died young of a heart attack and the post mortem showed he had heart disease, although there was no history of it in his family and he was supremely fit. I spoke to the doctor about our children and she immediately suggested that they get an ECG and have follow-ups every three years. If you discuss your parents situation with your GP, I'm sure they'll suggest the best course of action for you. It doesn't hurt to get blood tests and have your blood pressure checked before conceiving anyway. It's always better to be proactive about your health than to wait for a problem.
It's worth going to you GP before you start trying as they'll be able to advise you of any extra precautions or steps you can take based on your medical history and current health.
You absolutely can go to your GP about this. If you can be specific about the factors that affected your parents and your specific concerns it would help.
When replying to submission/post please make genuine efforts to answer the question given. Please no jokes, judgements, etc. If a post is marked 'Serious Answers Only' you may receive a ban for violating this rule.
Don't be a dick to each other. If getting heated, just block and move on.
This is a strictly no-politics subreddit!
Please help us by reporting comments that break these rules.
Screaming_lambs@reddit
Maybe genetic testing. I have things 'wrong' with me that have a 50% chance of passing on to kids if I had them. Luckily for me I've never had the urge to create any, so it's not a thing I've ever had done. Even though Dr's have asked me about it.
If I was you I'd go to my GP and explain about your family history and hopefully you'll get a referral.
hughesyg@reddit
Yes go to your GP. If you have a genetic condition with a more than 50% chance of being passed on you can have genetic testing on the embryo too
Jumpy-Jello-@reddit
You could try r/askdocs.
MountainMuffin1980@reddit
What did your parents die from? If it wasn't a genetic issue then there's no need to worry.
ceb1995@reddit
You d be looking at private GP, gynecology and maybe genetics. But just to say your child could be disabled even if you were very healthy and genetic tests found nothing, my dad died in his 30s from marfans syndrome which I fortunately didn't inherit so I do get how you feel.
Then our 5 year old son is non verbal autistic and likely learning disabled and very unlikely to ever be fully independent, the NHS won't give him genetic tests as he's no physical concerning features but theres so many mutations for disabilities they can't rule out everything for sure as we haven't found it yet or sometimes things just happen in birth like prematurity or HIE etc, so it's a case of knowing it's a roll of the dice anyway.
No-Jicama-6523@reddit
Known Marfans is better than unknown Marfans, they discovered that beta blockers can massively bring down the risk of aortic dissection.
ceb1995@reddit
Yes it was something to make peace with for me, that his death didn't have to happen if anyone had ever noticed his many features beforehand. Although it was 2004 and I believe the awareness on it has been a lot more wide spread since then.
Available_Hornet_715@reddit
Sorry to hijack but does your son not meet the testing criteria for R27 whole genome sequencing under “moderate - severe intellectual disability”? https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/r27-paediatric-disorders/
ceb1995@reddit
We re in a bureractic problem where our ICB doesn't do cognitive assessments so he doesn't have his LD diagnosis yet and he has no diamorphism. Until recently with a weight stall he was always in the right range growth wise so they ve refused to fund any genetic testing.
Available_Hornet_715@reddit
Do you have a community paediatrician? Even moderate developmental delay is a criteria- sorry assuming you’re in England as things differ in the other nations.
ceb1995@reddit
Yes we're in Lancashire :) Community paeds have just discharged him after we got a stable melatonin dose , he's been seen by two and both said no. He's not due to be seen until year 6 as it stands for his transition appointment for swapping to a different SEN school for high school.
One of them is the clinical director for the department, it's all about money sadly even been told he's probably got arfid as of a couple of weeks back but "there's no pathway for it, until he's underweight we can't do anything".
Honestly we aren't having more children due to his needs, so although it would have been good to have an answer of sorts it's something we have peace with not knowing. Still fighting everyone I can otherwise though, never ends 😂
Available_Hornet_715@reddit
That’s so strange, I’m really sorry to hear about your experiences, it really does seem to be a postcode lottery, but the guidance is clear!
ceb1995@reddit
Oh it's ok, we don't even have a SALT on the NHS whereas 30 miles down the road he would. They re not following plenty of NHS or NICE guidelines here in the name of resource shortages. Thankfully I won the SEN school battle where others wouldn't have been so lucky so very grateful for that.
Available_Hornet_715@reddit
Wow- it’s a shambles really isn’t it. It’s so important for early intervention but the waiting lists or hoops you have to jump through are so prohibitive. Wishing you little one all the best at school!
ceb1995@reddit
Thank you :)
thespanglycupcake@reddit
I think it depends what your parents died from. If it was something which could be passed on, it’s definitely worth checking. If it’s a heart attack or something more random then you may be slightly more predisposed to it if you have a heart condition but it may be influenced by lifestyle. There are health checks available from private providers but I don’t think they would do specific tests. Best thing to do is call a few companies and ask.
No-Jicama-6523@reddit
I think a GP would do things like check cholesterol and blood pressure in someone who had a parent die young of a heart attack.
No-Jicama-6523@reddit
You can go to your regular GP. They may refer you to gynae, but as there doesn’t seem to be concerns in that area, maybe not, but they are who does pre pregnancy assessments for those who need it. They can then refer for other things.
I did this when thinking about kids with a new partner, there were health concerns for me and genetic concerns for both of us. They put our mind at rest on the genetics (disorders in the same category, but no risk of them combining to create something worse), referred me for cardiac checks.
tiddyb0obz@reddit
They might test bloods but so much can happen in pregnancy and postpartum that there's some stuff they can't possibly predict. I was fit and healthy at 23 and had a kid and developed a host of autoimmune disorders from the stress pregnancy puts on the body
ParsleyChops@reddit
I’m sorry that I can’t help you but as someone living with a very painful genetic condition I love that you’re doing this!
HotPaleontologist589@reddit
Have a conversation with your GP. Does anything run your family? The gene that causes breast & ovarian cancer runs in my family and I was able to get tested for the gene. Luckily, I don’t carry it!
Unsophisticated1321@reddit
This is perfectly reasonable, I think start with your GP but in my area there are private GP surgeries in most towns and villages where you can just make an appointment and pay upfront without needing private medical insurance. I just did a quick search online for uk private genetic testing and quite a few clinics popped up that offer it.
Unsophisticated1321@reddit
Also I regularly get private well woman blood tests done, these might be a good idea before pregnancy because it’s very thorough. Like you I was cautious before pregnancy and I even got an MMR booster. Also with my last pregnancy I got a NIPT test and would recommend this even though it was quite expensive.
dbxp@reddit
You can always try your GP, some are quieter than others, pharmacies can do BP checks too
BG3restart@reddit
You should definitely chat to your GP. My husband died young of a heart attack and the post mortem showed he had heart disease, although there was no history of it in his family and he was supremely fit. I spoke to the doctor about our children and she immediately suggested that they get an ECG and have follow-ups every three years. If you discuss your parents situation with your GP, I'm sure they'll suggest the best course of action for you. It doesn't hurt to get blood tests and have your blood pressure checked before conceiving anyway. It's always better to be proactive about your health than to wait for a problem.
JoeDaStudd@reddit
It's worth going to you GP before you start trying as they'll be able to advise you of any extra precautions or steps you can take based on your medical history and current health.
811545b2-4ff7-4041@reddit
You absolutely can go to your GP about this. If you can be specific about the factors that affected your parents and your specific concerns it would help.
Rubberfootman@reddit
Start with a conversation with your GP about this - they should at least be able to point you in the right direction.
AutoModerator@reddit
Please help keep AskUK welcoming!
When replying to submission/post please make genuine efforts to answer the question given. Please no jokes, judgements, etc. If a post is marked 'Serious Answers Only' you may receive a ban for violating this rule.
Don't be a dick to each other. If getting heated, just block and move on.
This is a strictly no-politics subreddit!
Please help us by reporting comments that break these rules.
I am a bot, and this action was performed automatically. Please contact the moderators of this subreddit if you have any questions or concerns.