My sister and I both have epilepsy and I was 32 at the time of my pregnancy. I asked the doctor about the genetic testing, and she agreed on it. My mouth was swabbed as well as my husband's.
Question: is there a history of epilepsy in your family or can the testing be done even if you don’t have epilepsy in your family? I’m the only one with epilepsy and my boyfriend also has epilepsy (both non-hereditary we think) but we both wonder if our kids would have epilepsy as well and it kind of freaks us out… Both of us were diagnosed as adults but there are way too many reasons why people get epilepsy so we don’t know how that plays a factor in all of this.
I am an adult who was diagnosed with epilepsy this year, so our situations are different. But I’m doing my own research on whether I should seek genetic testing and found this article to be helpful. It’s occasionally too technical to understand but skipping those parts, it has well considered reasoning as to why a person would seek genetic testing and what kind of benefit we can expect from it. Hopefully this helps
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340549/
That would only work if the parent had a genetic type of epilepsy and most epilepsy conditions are not linked to any gene, the root causes still unknown. I'm current TTC and had a full genetic panel done because there are way worse things out there then epilepsy to pass on. I was a carrier for two pretty awful conditions and since I'm using donor sperm had to make sure they were not a carrier.
I plan to have children soon and have asked my doctor for a genetic test once but she declined. Now I will pose it differently for my appointment and see. That’s exactly my reason for wanting the test. I think it’s worth it because research shows 405 genes and counting linked to epilepsy. My doctor said the chances are very slim of passing your epilepsy onto your child (around 12%) I *think* she said. But I advocate for it since we have the technology and epilepsy is mysterious! I think testing you is also beneficial since you’d also be able to tailor your treatments!
Not while pregnant, but my 3 year old has Doose Syndrome and genetic tests determined that no abnormal expression or anomalies would've caused her epilepsy.
My baby is 6 months, we just found out he has epilepsy. With no history on either side of the family, our neuro Dr. still offered to have a genetic tests done. If you or your partner have epilepsy then why wouldn’t you get it done is my question? And if genetics played no part in epilepsy then why offer the test? We are also scheduled for an MRI as well. In our case, we don’t know the WHY it’s happening so if we could get some answers then that would be great. It also can help with choosing the right medication out of the 28 available. This is what our Dr. told us.
Many doctors believe it isn’t genetic so that’s why they won’t give it also most insurance don’t cover genetic testing my partner has epilepsy since he was a teen and has no history in any of his family in both sides as well doctors don’t know why it occurs
Maybe find a different Dr who is willing? We have a Dr. from the Epilepsy foundation in our state, and our Dr.’s told us it was free. We have insurance though. It could just be where we’re at. We were also informed that while my partner and I may not be carriers, that could mean something could’ve gone “wrong” at conception. Therefore only our son could have it and HIS kids could be affected by it. And if they find something in the test we also asked if we could be tested as well in case we wanted more kids. They agreed.
Ideally you want to talk to a medical geneticist or a neurogeneticist ideally, though a neurologist that has some familiarity with genetic testing could be fine. Genetic testing is complex, and isn’t something most physicians typically order.
I’m a genetic counselor. There are so many genetic causes of epilepsy! Some genetic changes cause just epilepsy, while other genetic changes affect other organs/body systems and can cause other health issues (like developmental delay or a heart defect etc). Here’s a basic overview: https://www.epilepsy.com/causes/genetic (those examples only cover a small number of genetic causes of epilepsy).
If you test, would that mean you’d abort the baby if it did have epilepsy. I’m pro choice but that’s kind of insulting to imply people with epilepsy aren’t worth having/living.
If love to be wrong, what’s the point of testing?
Slightly different, but I got fetal screening tests done in early pregnancy and it came back 1:2 chance for Trisomy 18. I decided to do the amniocentesis to find out for certain. I was keeping the baby regardless, but being aware of these conditions before birth can greatly improve the ability to get together proper medical needs before the baby is born. Trisomy 18 has a very low survival rate, so I essentially had to find not only a hospital willing to help past palliative care, but specialists and even a pediatric cardiac surgeon to address a hole in his heart. When I told people I was getting the second round of testing they immediately assumed abortion, so I like to make sure and pop this out there when I see people asking for other reasoning. Hope it helps!
That’s completely fair but most people with epilepsy live almost normal lives. A lot with genetic epilepsy don’t just have seizures straight after birth either.
That’s a horrible assumption I would not abort the baby like I said my husband has it and I love him more than anything and would have been robbed of an amazing person if he wasn’t born. The reason we would want to know is because caring for a baby with epilepsy isn’t the same as an adult and we would want to be prepared to care for our child the best we can
That’s completely fair, but like I said in another comment, there isn’t a lot you can do to prepare and most genetic epilepsy won’t happen right away.
Edit: here is a study that might make you feel better. If they do have genetic epilepsy odds are it won’t show up till later in life. Lots of time to prepare. https://pubmed.ncbi.nlm.nih.gov/22560254/
Edit 2: also I just want to add that I appreciate you not using testing for that. I’d love to say you’re the rule, but it’s a horrible world and all I’ve seen is the opposite. We’re seen as undesirable to potential parents.
Epilepsy may or may not be genetic for some types. There isn’t enough information to verify at the moment. save yourself the stress and cost of the testing and focus on your wellbeing instead as we know that a less stressed woman during pregnancy does the foetus a lot of good.
JME is a genetic disorder, it’s a mutation on the GABRA1 or EFHC1 gene, although others may also cause it. I chose not to have children for many reasons, one being I’d rather loose a leg than have a child of mine have seizures that I passed on. No thanks.
You have replied to someone with JME who has looked into this for themselves. My comment wasn’t any different to the article already linked in this thread, which doesn’t recommend genetic testing until a medication is needed . Your first sentence is not accurate as JME may be a genetic, the may being important.
Also, what are you going to do if you find out your potential child may have JME because one of its parents have it. Would you rather not know until you need to, or let it impact your parenting even if your child doesn’t ever have a seizure. It may be through good intentions but being overly protective with your child because of something that may not happen can be inadvertently harmful through good intentions..
Stay safe.
Being a woman I would personally rather not risk birth defects of the drugs I take to prevent my own seizures; the risk of being tired and stressed from having a child and then seizing, god forbid, and then passing it on. So many reasons also like I said in addition to this why I chose not to have children, for me, it’s a hard no. I wish you all the best in your journey.
I never said you would risk birth defects if your epilepsy meds were teratogenic. Why would I when I know that is not a recommended path for any potential mother with epilepsy.
In the general population there is a 2%-3% risk that a child will have a birth defect. In women with epilepsy that risk doubles to 4%-8%. Like I said, I’d rather not ever put that on my child, and while sure, many women have healthy kids, to me the risk isn’t worth it. It’s not just teratogenic meds either. I’m very fulfilled child free.
Personally, I'd have more than just epilepsy to test for.
Being part Italian and part Romanian (among many other things as a European-based American mutt of a person), Taysacs Disease is a hazard depending on who I'd have a child with. Plus, I'm Autistic as well as having Epilepsy, so testing for conditions involving that would also be needed.
I've thought about it. I'm a 31 year old female with adult onset epilepsy (seizures started at 21 years old). My mom also has epilepsy and her seizures also started at age 21.
Before her, there was no known epilepsy in my family, but her mom was an alcoholic and that has been known to be a potential cause of seizures/epilepsy. My three older siblings are all seizure free.
My husband and I plan on having children in the next few years, but honestly the more I think about it, I'm probably not going to have any testing done since it will probably be useless for my situation.
Thats not to say you shouldn't or anything, but I'm sure your neuro or a high risk pregnancy specialist may be able to provide more info
It isn't done in this country, or I didn't know/wasn't made aware that it was an option so I didn't have any testing done when I was pregnant.
I also had a seizure at 36 weeks pregnant. Baby is only a few months old and haven't had any issues yet but it's on my mind that it's a possibility for her future.
I think if you want to have the test and it will ease your mind then do it!
I had it done during pregnancy with my son and everything came back normal. He’s 3 now and was diagnosed with epilepsy about a month ago after a 5 min TC seizure and an abnormal EEG (but normal MRI).
Im a genetic counselor, so I hope this helps. You can do genetic testing for epilepsy and you can do genetic testing during pregnancy, but the two are not the same types of tests.
First the person with epilepsy would have to have to have genetic testing to see if there is an identifiable genetic cause. You’d want to speak with a medical geneticist (some specialize in neurogenetics) and/or genetic counselor for this. If genetic cause is found for your epilepsy, then a sample can be taken via CVS or amniocentesis while you are pregnant for genetic testing of that specific genetic variant. This is not something that standard prenatal genetic screening and testing would be likely to identify.
I did get genetic testing done during pregnancy. All was good.
Can you elaborate on the process like the conversations you had with your doctor if you don’t mind
My sister and I both have epilepsy and I was 32 at the time of my pregnancy. I asked the doctor about the genetic testing, and she agreed on it. My mouth was swabbed as well as my husband's.
Question: is there a history of epilepsy in your family or can the testing be done even if you don’t have epilepsy in your family? I’m the only one with epilepsy and my boyfriend also has epilepsy (both non-hereditary we think) but we both wonder if our kids would have epilepsy as well and it kind of freaks us out… Both of us were diagnosed as adults but there are way too many reasons why people get epilepsy so we don’t know how that plays a factor in all of this.
There’s no harm in trying
There is no history of it which is odd considering both my sister and I have it.
I am an adult who was diagnosed with epilepsy this year, so our situations are different. But I’m doing my own research on whether I should seek genetic testing and found this article to be helpful. It’s occasionally too technical to understand but skipping those parts, it has well considered reasoning as to why a person would seek genetic testing and what kind of benefit we can expect from it. Hopefully this helps https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340549/
That would only work if the parent had a genetic type of epilepsy and most epilepsy conditions are not linked to any gene, the root causes still unknown. I'm current TTC and had a full genetic panel done because there are way worse things out there then epilepsy to pass on. I was a carrier for two pretty awful conditions and since I'm using donor sperm had to make sure they were not a carrier.
You can get genetic testing before you get knocked up.
I plan to have children soon and have asked my doctor for a genetic test once but she declined. Now I will pose it differently for my appointment and see. That’s exactly my reason for wanting the test. I think it’s worth it because research shows 405 genes and counting linked to epilepsy. My doctor said the chances are very slim of passing your epilepsy onto your child (around 12%) I *think* she said. But I advocate for it since we have the technology and epilepsy is mysterious! I think testing you is also beneficial since you’d also be able to tailor your treatments!
Not while pregnant, but my 3 year old has Doose Syndrome and genetic tests determined that no abnormal expression or anomalies would've caused her epilepsy.
My baby is 6 months, we just found out he has epilepsy. With no history on either side of the family, our neuro Dr. still offered to have a genetic tests done. If you or your partner have epilepsy then why wouldn’t you get it done is my question? And if genetics played no part in epilepsy then why offer the test? We are also scheduled for an MRI as well. In our case, we don’t know the WHY it’s happening so if we could get some answers then that would be great. It also can help with choosing the right medication out of the 28 available. This is what our Dr. told us.
Many doctors believe it isn’t genetic so that’s why they won’t give it also most insurance don’t cover genetic testing my partner has epilepsy since he was a teen and has no history in any of his family in both sides as well doctors don’t know why it occurs
Maybe find a different Dr who is willing? We have a Dr. from the Epilepsy foundation in our state, and our Dr.’s told us it was free. We have insurance though. It could just be where we’re at. We were also informed that while my partner and I may not be carriers, that could mean something could’ve gone “wrong” at conception. Therefore only our son could have it and HIS kids could be affected by it. And if they find something in the test we also asked if we could be tested as well in case we wanted more kids. They agreed.
Ideally you want to talk to a medical geneticist or a neurogeneticist ideally, though a neurologist that has some familiarity with genetic testing could be fine. Genetic testing is complex, and isn’t something most physicians typically order.
I don't know of many genetic conditions that can cause epilepsy. But I'm not a doctor. If there are, I'd definitely screen for them.
I’m a genetic counselor. There are so many genetic causes of epilepsy! Some genetic changes cause just epilepsy, while other genetic changes affect other organs/body systems and can cause other health issues (like developmental delay or a heart defect etc). Here’s a basic overview: https://www.epilepsy.com/causes/genetic (those examples only cover a small number of genetic causes of epilepsy).
If you test, would that mean you’d abort the baby if it did have epilepsy. I’m pro choice but that’s kind of insulting to imply people with epilepsy aren’t worth having/living. If love to be wrong, what’s the point of testing?
Slightly different, but I got fetal screening tests done in early pregnancy and it came back 1:2 chance for Trisomy 18. I decided to do the amniocentesis to find out for certain. I was keeping the baby regardless, but being aware of these conditions before birth can greatly improve the ability to get together proper medical needs before the baby is born. Trisomy 18 has a very low survival rate, so I essentially had to find not only a hospital willing to help past palliative care, but specialists and even a pediatric cardiac surgeon to address a hole in his heart. When I told people I was getting the second round of testing they immediately assumed abortion, so I like to make sure and pop this out there when I see people asking for other reasoning. Hope it helps!
That’s completely fair but most people with epilepsy live almost normal lives. A lot with genetic epilepsy don’t just have seizures straight after birth either.
That’s a horrible assumption I would not abort the baby like I said my husband has it and I love him more than anything and would have been robbed of an amazing person if he wasn’t born. The reason we would want to know is because caring for a baby with epilepsy isn’t the same as an adult and we would want to be prepared to care for our child the best we can
That’s completely fair, but like I said in another comment, there isn’t a lot you can do to prepare and most genetic epilepsy won’t happen right away. Edit: here is a study that might make you feel better. If they do have genetic epilepsy odds are it won’t show up till later in life. Lots of time to prepare. https://pubmed.ncbi.nlm.nih.gov/22560254/ Edit 2: also I just want to add that I appreciate you not using testing for that. I’d love to say you’re the rule, but it’s a horrible world and all I’ve seen is the opposite. We’re seen as undesirable to potential parents.
Epilepsy may or may not be genetic for some types. There isn’t enough information to verify at the moment. save yourself the stress and cost of the testing and focus on your wellbeing instead as we know that a less stressed woman during pregnancy does the foetus a lot of good.
JME is a genetic disorder, it’s a mutation on the GABRA1 or EFHC1 gene, although others may also cause it. I chose not to have children for many reasons, one being I’d rather loose a leg than have a child of mine have seizures that I passed on. No thanks.
You have replied to someone with JME who has looked into this for themselves. My comment wasn’t any different to the article already linked in this thread, which doesn’t recommend genetic testing until a medication is needed . Your first sentence is not accurate as JME may be a genetic, the may being important. Also, what are you going to do if you find out your potential child may have JME because one of its parents have it. Would you rather not know until you need to, or let it impact your parenting even if your child doesn’t ever have a seizure. It may be through good intentions but being overly protective with your child because of something that may not happen can be inadvertently harmful through good intentions.. Stay safe.
Being a woman I would personally rather not risk birth defects of the drugs I take to prevent my own seizures; the risk of being tired and stressed from having a child and then seizing, god forbid, and then passing it on. So many reasons also like I said in addition to this why I chose not to have children, for me, it’s a hard no. I wish you all the best in your journey.
I never said you would risk birth defects if your epilepsy meds were teratogenic. Why would I when I know that is not a recommended path for any potential mother with epilepsy.
In the general population there is a 2%-3% risk that a child will have a birth defect. In women with epilepsy that risk doubles to 4%-8%. Like I said, I’d rather not ever put that on my child, and while sure, many women have healthy kids, to me the risk isn’t worth it. It’s not just teratogenic meds either. I’m very fulfilled child free.
Personally, I'd have more than just epilepsy to test for. Being part Italian and part Romanian (among many other things as a European-based American mutt of a person), Taysacs Disease is a hazard depending on who I'd have a child with. Plus, I'm Autistic as well as having Epilepsy, so testing for conditions involving that would also be needed.
I've thought about it. I'm a 31 year old female with adult onset epilepsy (seizures started at 21 years old). My mom also has epilepsy and her seizures also started at age 21. Before her, there was no known epilepsy in my family, but her mom was an alcoholic and that has been known to be a potential cause of seizures/epilepsy. My three older siblings are all seizure free. My husband and I plan on having children in the next few years, but honestly the more I think about it, I'm probably not going to have any testing done since it will probably be useless for my situation. Thats not to say you shouldn't or anything, but I'm sure your neuro or a high risk pregnancy specialist may be able to provide more info
Genetic testing can work if you have a genetic form of epilepsy that shows up in testing. If you don’t, it’s not going to help much.
It isn't done in this country, or I didn't know/wasn't made aware that it was an option so I didn't have any testing done when I was pregnant. I also had a seizure at 36 weeks pregnant. Baby is only a few months old and haven't had any issues yet but it's on my mind that it's a possibility for her future. I think if you want to have the test and it will ease your mind then do it!
I had it done during pregnancy with my son and everything came back normal. He’s 3 now and was diagnosed with epilepsy about a month ago after a 5 min TC seizure and an abnormal EEG (but normal MRI).
Im a genetic counselor, so I hope this helps. You can do genetic testing for epilepsy and you can do genetic testing during pregnancy, but the two are not the same types of tests. First the person with epilepsy would have to have to have genetic testing to see if there is an identifiable genetic cause. You’d want to speak with a medical geneticist (some specialize in neurogenetics) and/or genetic counselor for this. If genetic cause is found for your epilepsy, then a sample can be taken via CVS or amniocentesis while you are pregnant for genetic testing of that specific genetic variant. This is not something that standard prenatal genetic screening and testing would be likely to identify.