inheritance of epilepsy

Re: Re: Re: inheritance of epilepsy

Submitted by gretchen1 on Sun, 2006-04-30 - 06:11

Yes, Spiz, I'm in total agreement. It's always good to include the URL clickable too (don't hit me!). I posted on the testing forum that most of my huge paternal family is once again seeing a geneticist because we're having to me a near explosion of incidences of new epileptics - or at least the number is growing uncomfortably high. We've known for quite awhile our epilepsy is inherited. And that's about all. I have daughter's and other relatives of child bearing age and it is these children who asked we all participate in this study. One of my children who does have epilepsy has had two children and one of his children also now has it. My father also had it. That is the only so far 4 generation incidence with all of us. So the child bearing age children in my family asked if we'd all participate with a genetic study and we are. After reading what I wrote under "testing" forum? I think I probably made it more confusing by leaving so much out but if you do go to a geneticist you find out so much, or at least we are, I have no idea how I could include it all. So maybe that thread is confusing. There are some difficult factors for our whole family being tested. One is we live in two countries. Another is within the US we live in several states. IOW gathering data from a very large family so spread out is taking time plus it's most ideal if all tests are done in the same lab but we're having to use many different ones due to distance. Some of the literature we've gotten states it's known there a lot of kinds of inherited epilepsies but it's not known how to test where many these originate. Even if known, it doesn't mean treatment is avilable such as Down's Syndrome is known to be a faullt or maybe it's mutation, I'm not sure of the terminology, at the 21st chromosome I believe (I might be wrong) but so far no one has been able to isolate and manipulate this chromosome to escape Down's Syndrome. Down's Syndrome is not thought to be an inherited condition though but there are some thoughts that there are other syndromes other family members might have that could indicate a progeny of that family could have Down's. A fetus can be tested in utero now to see if they do have Down's. But nothing can be done about it, not yet because it only shows in the child, not in the parents. As explained to us even if our geneticist can pinpoint what our kind of hereditary epilepsy is, it was unlikely we'd gain much more than just that knowledge. For instance the young adults want to know who is a carrier, whose progeny could inherit this. She warned us there is very little likelihood we'd find that out and now for us anyway that looks the case. This is in anyway our type of epilepsy. I can't speak at all for any other types. We all filled out a long questionnaire whether we had it or not first. Sent in medical records of those of us who have it or don't but our progeny do. From all these questionnaires, interviews of those of us who have it, and studying our medical records, our geneticist has identified that we all do have the same symptoms strongly indicating it is an inherited type of epilepsy but preliminarily it is not connected with a known syndrome - such as tuberous sclerosis with seizures. I've talked to her on the phone and she's told me there is still so much not known about inherited epilepsies, a lot not known about epilepsy at all, that probably in my family's case she can't state a name of any disease we have but she has been able to make correlations that we do all seem to have approximately the same type of seizure originations I guess you'd say? We all sz alike. We might all start out different but eventually we all wind up in the same place to wit: We all have TLE's and it seems to be bilateral. We also all have generalized and that is the sz that shows up first, TLEs come one year or more later or might not be recognized if the person is too young to verbalize. We also tend to secondize TLE's to generalized very rapidly, or secondize a generalize drop say to a t/c but so rapidly it takes a trained personnel to even see the drop before it becomes a t/c. The contrast or opposite of this we don't do is for instance if someone has a TLE CP for several minutes that eventually progresses to generalized t/c. We don't do that. We do it REAL quick. That's then a recognized symptom she found by studying our medical records and questionnaires, not by brain or DNA studies. In fact so far from 3 VEEG's I've had it's thought I didn't have one t/c that didn't generalize from a drop and she found that significant as many of my relatives do the same. Which would indicate she said we have a specific syndrome that might not be recognized yet. She also said that some known syndromes have a higher probability of control with AEDs than others. Our family seems to be one of those but not all of us, for instance I'm wildly out of control but I think it's because I have always had trouble taking many types of medications and becoming allergic to them or having intolerable side effects, most of us don't. I have only found one AED and Clonipin so far out of many I can take. The rest of my family are on all kinds of AEDs. Most are fairly well controlled or controlled but our triggers also she noted seemed to be touchy for breakthroughs. She's saying the incidence of these things are occurring enough she can then consider them symptoms of the unknown so far type of genetic epilepsy we have. I find that interesting but not real helpful for the questions we wanted. She's still studying our data and there is still some lab work going on but I think they're wrapping that up. What she's doing right now for those who want to particpate is to try and evoke what their sz threshholds are. She explained that could be an indicator of just that individual's risk of developing epilepsy later. I wrote a little bit about that on my thread under "testing" forum. She has had a real emphasis on sz threshhold explaining I think that even if she could isolate a chromosone or gene that indicates one of us is going to develop epilepsy our sz threshholds can vary, other factors also play in, so just isolating if she could something that would indicate an individual is carrying whatever it is that makes us inherit this doesn't necessarily mean we will. There are other factors but she also said she wouldn't necessarily know how heavily these other factors may or may not play into contracting epilepsy. Since I wrote that I found out more of my relatives have had their sz thresh hold tested in what I call a modified VEEG. One of my adopted daughters I did mention in that thread. She had 3 febrile seizures as an infant, t/c's, which at that time I was told was not indicative of developing seizures later but that thought got changed at some point. She had a test I watched (don't do that it's horrid) that was like a very controlled closely observed and more extended EEG, more intense I'd call it I guess and she did have some abnormal EEG thingies but she didn't sz. They told us if the EEG strips started indicating a possibility of sz activity they'd stop it. She explained to us that at this time her thoughts are the most she can do for us is to poll every individual of our participating family which is over 70 individuals, which is a very good test sample size. Organize those results to see if one strain of our family seems to pass it easier than others, which might be an indicator of future progeny from that family branch. She'll give percentile odds she said when she gets these results. Then the other thing she's doing if someone wants to know is this test that is only an indicator of sz threshhold but she did stress something and I wish I could think of how she phrased this. In my words I'll try to translate. A person can have a syndrome that causes seizures. But their seizure threshhold can be effected by different elements they know now such as I moved to a much higher altitude in a day and that week I was diagnosed with epilepsy after my first recognized seizure. At the time I asked several doctors if my sudden rise in altitude could have caused me to develop epilepsy and was told no, changes in altitude don't lower the seizure threshhold but then several years later a research paper was published stating an abrupt change in altitude, going up a lot higher than what you're used to above sea level can lower the sz threshhold or cause sz's. I've always thought that's what tipped it off in me. There's one additional factor then. Febrile seizures, previous heat stroke are two other potential factors known in two of my girls. One who has epilepsy, one who doesn't but did spike when hyperventilating during her EEG. So I think for us this has been a worthwhile thing to do even if we're not getting the information we sought, we are getting at least INDICATORS of who might be at risk and that is at least something. We haven't seen a geneticist for 27 years I figured out precisely tonight and the science of it is like a whole new discipline. There is a tremendous amount of work being done in genetics but she did say in her opinion not nearly enough in seizure disorders in anyone, but more research is being done in childhood epilepsy than adult. She said what she can probably optimally offer us is to track for us which branches of our families have more prevalence starting with the Patriarch as far back as she can go in any of our families and we have records back to the 1400's since we're from Europe which keeps records back that far. My family stayed put, most early records were kept by churches and that's BTW where we got ours. The only data we have on that though are birth/death dates, marriage and baptism and then means of death and so far out of hundreds of relatives there are only FOUR recorded reasons for death but some have little inserts such as "(fits)", my least favorite word, still informational. Then she can give a very loose approximation which patriarchal families have a higher incidence. I asked her why say two brother's families might have a different occurence rate. She said because the Matriarch might have a tendency and then there are again all these other factors that she feels some of us might be more sensitive too - such as my mild epilepsy I didn't even know I had, blew up when I only went up a little over 5,000 feet in altitude. Yet, how many people ever do that? She mentnioend though this tremendous amount of potentially mitigating factors that can tip you over into seizures. I started wondering at one point why we all don't have them. If you're wondering, going back down in altitude didn't change anything. Also she said testing sz threshholds is debated as to how accurate it is to test, how accurate an indicator and if the results could cause more anxiety than it should. I don't have an opinon on that. Here is a thought I do have though about all of us particpating in this and again we've gotten so much info I could never include it all in a post. A close friend of mine's husband at the age of 30 developed Huntington's Chorea which is a devastating illness. Some people call it young person's Alzheimers. From the time he developed his first noticable symptoms, he was a Ph.D in math BTW, at the age of 30, he digressed in age. Like he was going backwards in years. My father died with profound dementia, a syndrome a lot like Alzheimers and that's not what he did. For instance his math skills didn't digress he just lost them. Her husband died in 3 years. When her daughter was 3 years old for a period of time her husband seemed to be cognitively at a 3 year old level and the two of them played together and that was to me the saddest thing in the world to watch. During this period of time his father and only brother also developed Huntington's Chorea. They all died within a few years of each other. What's really sad about this for one is that it's inherited. But the father got it after his youngest son, then the oldest son contracted it. Children of people with parents or relatives who have had Huntington's Chorea can be tested and given a percentile odd if they are going to develop it. My friend had already had two children before her husband was diagnosed, a girl and a boy who were very young when their father died. So to me knowing them as well as I do and watching this agonizing decision she had to make whether she should tell them they could be tested to find out their probability of developing this or not and if either decided to be tested, should she allow them to be tested with her written agreement when they were of a minority for her peace of mind or let them make that decision once they were a majority. She said at that time statistically only 50% of all candidates for Huntington's decided to be tested. I thought that a surprisingly low percentage. She opted for the second. Let themdecide when they become a majority. Meanwhile 2 other cases occurred in her husband's family. That is one heck of a decision for the parent to make ethically, if even to tell your children they can be tested to find out if they're going to get a disease or what percentage chance they will get it and die early. You may be thinking right now, of course she had to tell them. But here is the real story of how that works out in virtual life. Her son was brilliant, really brilliant. He got a full scholarship to the University of Chicago in some hard discipline I can't remember. That's a very hard university and the field he'd chosen takes many years to develop professional maturity in. Yet it was the only thing he was interested in. If he was going to die in his 30's, yet some people don't develop Huntington's in their 30's but much later and that can't be predicted, should he change majors or follow his dreams? He didn't know in high school how he'd test but he wouldn't date, get involved with a girl. He started socially isolating himself, he didn't want to make friends in case he had the gene and it effected him very early in his life. These are only a few examples of the emotional burdens he carried knowing he might have it. He decided finally, probably rashly, not to be tested at the age of 18. He went to college, completed his degree and got a great job but he was a hermit. He got extremely surly to be around, really nasty. He was carrying this gigantic unknown burden around. Around the age of 25 he did meet a woman he couldn't help being interested in but before it went too far he then decided to be tested and if I remember right he tested out as having a high 80% chance of developing Huntington's. He committed suicide. Her daughter decided very easily she didn't want to be tested and always stuck with that. Her feeling was it was fatalistic. She was a friend of one of my daughters so I knew her better. She too was a very bright girl and everything that went through her mind came straight out her mouth so I think I always knew what she was thinking. She and her brother were one year apart in age. She said she could see the burden of not being able to decide if she should or shouldn't be tested so she decided not to be. Somehow she seemed to put it clear out of her mind, how I don't know. Which is one of my points. In my family we have other and easily testable genetic diseases. Asthma is one we've been through a geneticist about because one of my children has nearly lost his life several times and is still at great risk. 3 years ago he had to have some of his lung removed and very nearly died from a hemorrhaging burst lung twice. One of my daughters also has asthma but not nearly as bad as he does. I was pregnant when we had this testing done and my child in utero tested not to be prone to have asthma. What the tests couldn't tell us if that my most effected son has extremely severe asthma but his sister's is mild to moderate. If you knew you were going to pass on mild to moderate asthma or severe? Would it effect your decision to bear children? Before you answer sit at your son's bedside with two chest tubes in, intubated, open chest surgery twice in two weeks and THEN think you can't know it all by genetic testing. On the other hand my son has had a full and happy life. He has two healthy wonderful daughters. One does have epilepsy but they've been able to control it for the most part but he is not going to have them tested for asthma. Sorry, back to my friend's daughter. She got a law degree, married, and had two children. She's now 34 and has developed no symptoms. She had her children in her late teens and one now is old enough to know all this and she wants to be tested. Her mother is sticking to her mother's decision, she'll have to wait until she's 18 to make that decision. The way her life is turning out? She made the decision she seemed happy with not to be tested but now that one of her daughters has decided at least for now to be tested in a few years? She's going through the agony of those results sometime soon in her daughter, even though she didn't have it done herself. She personally despises genetics. I guess my moral of all of this is I believe in going to geneticists. This is our third time through. The first time for epilepsy though. But we have had some results that have caused some problems, concerns, things I don't know if some of us really wanted to know because it's not known how pertinent they may or may not be. It's simply not known. Also don't get your hopes real high. You don't usually get a "yes" or "no" card. You get indicators, percentage chances but not of severity. I personally like the yes or no cards. I like black and white in medicine but it's a "soft science" and there are few yes or no's but a lot of grays. Going back to Down's Syndrome there is a great range of severity of functioning in these individuals but all the test can tell you is if the chromosome 21 is positive or not. Before you begin your genetic work up ask your doctor precisely what they think they can tell you. We're getting "indicators" and we're finding that for many it is only increasing the stress of knowing - what? Gretchen