Got the results of genetic testing on my wife this evening. It seems that she does indeed have Familial EOAD. The results of her sequencing show a unique mutation of the Presenilin 1 Gene on chromosome 14.
Sorry to hear the news but at least you have a reason for her having the horrid disease. That still does not make it any easier for you both and your family.
We have a daughter... That is the horrible part of the news. My wife lived her whole life in fear of this disease because her own mother died at age 59. Our daughter is already anticipating the same thing. Even with this knowledge there is a 50/50 chance that she will escape it but before there was the possibility that her mom and grandmother getting it was just freak chance. Now I know that it isn't chance at all but a directly inherited autosomal positive trait. When I decided to have the testing done I held out hope that the results would be different.
Oh, Thunder, I am so very sorry. Hang on to that 50/50 chance possibility. My heart goes out to you and your family. We are all here for you whenever you need us. God bless.
I do everything that I can to give my daughter the chance to live a normal life. She is dedicated to her mom and has told me that she is not leaving until her mom passes. I want her to be able to life her life as full as she can. My heart is breaking right now. I feel so weighed down. I did not tell my daughter that I was having this test done because I did not want her to feel obligated to hear the results. I figured that I could just sit on the results and some day when she indicated that she wanted to know I would tell her. Now I have this damned secret and it hurts.
Thunder-- Sit on it as long as you need to, but when the time seems right, suggest she could know for sure. Talk to her about the opportunity to know for sure, so she can plan her future. Either way she has one, you know.
My handicap is genetically passed. Our Daughter was born in 1977. In the early 1990's they finally had testing for my handicap (multiple genetic errors can cause it, so several errors have to be looked for). First round of official tests were all negative. Samples of my blood were sent to the Research Center at Baylor University. They found the error. My family was given the opportunity to have their samples matched against mine. As with your wife's error, if mine is present the person has the disease, even if symptoms are not present at the time. I sweated it out. No one matched. The error appeared with me and I didn't pass it on.
50/50 could be bad, but it could be glorious. Either way, your daughter has the opportunity to plan a full life for herself. The outcome of the testing will likely determine the directions she choses to take. But at least she has the chance to KNOW and not have this hanging over her head like a black cloud.
And don't forget that they may find the cause or a cure or a way to prevent the disease from developing by the time she gets there. It only takes one unexpected breakthrough to find it.
Thunder: I have been gone for a while, so in catching up I saw your posting. Please accept my sincere sorrow for your situation. I will be keeping you and your family in my thoughts and prayers.
I asked my son if he wanted to be tested (dh has eoad-FTD). Son said he would agree If I wished it-but he didn't want to know the results. We didn't test. My heart aches for you-I understand your pain.
Thunder, Don't give up hope..Hope is about all we have and we need it. You said there is a 50/50 chance she could inherit this terrible disease. There is also the chance she might not. I think, should she want to have a family of her own one day this is something she may want to know then and might ask about. Or she could just be so concerned that she might have this and pass it on she elects not to have a family one day without knowing the results. You have a difficult situation right now and perhaps your doctors could help advise more about the results and the effects of sharing the data at some point as well as how to go about this. I identify with you and have some serious worries not unlike yours now. Our middle girl has mentioned memory faults, her husband worries about this too and I think in the back of their minds they are worried she could have this AD as her dad and an aunt have and her mother has some kind of memory issues too. I have no way to know other than by what she says and suggested she see a neuro..I share your fears right now. If she has this, she would be very EOAD.
I'd sit on this as long as possible. Not everyone w/the gene gets AD. Also, if daughter has testing, it will be on her medical records & can impact insurance, job opportunities or serious relationships. This has to be so very hard for you to keep to yourself, and maybe she will be upset if you later tell her & she says, 'why didn't you tell me sooner?' or 'why did you tell me at all?' It sounds like you have a good relationship, that's precious, but my heart is aching for you right now. At least you knnow you can let things out here--I'm so very sorry -- and for you, too, Mimi. On the other hand, no one in DH's family had AD, except, maybe one very elderly aunt--and he has a big family, but no one else. I pray that's all.
Thunder, Definitely not an easy time. In our area, any genetic testing HAS to be preceded by counseling (by someone qualified specifically to explain the medical condition plus share the implications of actual genetic testing). The genetic counselor is also available post testing for support and provision of further information should the person test positive and have concerns (not thought of before testing). Not sure if this is the case in your area but it would be worth asking if it is available and I'd recommend considering traveling out of town (if needed) to talk with a trained genetic counselor. They are experienced in helping people navigate through the tough moments that are a part of receiving a positive diagnosis . . . and can offer support in knowing how/when to share test results with family members. You have just found out the results. Give yourself some time to absorb the news . . . you shouldn't have to keep it a secret for a long time but it's also not realistic to share the results immediately until you've had time to think things through more . . . to get answers to any questions that you have (or will have in next while). Waiting a bit also provides time to figure out how to share the results. I have gone through genetic testing at two different times in my life (for two separate conditions) and receiving positive results for both wasn't unexpected (given symptoms present) . . . but I needed some time before I was ready to share with other family members. I had confided in a couple of close friends (when testing was done) and turned to them for support/understanding to help me move forward with telling the results. Both genetic counselors were also great in giving me info and offering support. One thing I have learned is that genetic counselors (at least in our area) don't pressure a younger person to get tested until the young adult has got somewhat established (ie obtained job . . . bought home . . . obtained life or health insurance). It does depend on the medical condition----obviously a medical condition that manifests early in life may be recommended for testing sooner but generally they are open to a young adult waiting. Many younger adults may want to know prior to starting a family and that is considered a very valid reason to be tested. But the genetic counselors are very willing to meet and answer a family member's questions and just as willing to advise waiting if that is a reasonable option. Bottom line though is that it isn't an issue that any parent wants their child (no matter age of parent or child) to have to grapple with . . . even though knowledge can be helpful in making future decisions. One hopes (as a parent) that knowing a genetic condition is part of family heritage will result in family members appreciating life more . . .
Thanks again for all of the support... it really does help.
To clarify, this particular genetic mutation is not simply a risk factor like the ApoE gene it is an autosomal positive predictor. That means that only one replicate of the gene is required for the gene to express phenotypically. It is a mutation of the Presenilin-1 gene on the 14th chromosome. If even one of the two genes at this locus has this mutation you get EAOD. My wife is the third generation of her family to get this disease (that we know of) and her mother and grandmother were dead at ages 59 and 56 respectively. Sharon, my wife, has the gene and is in stage 6/7 EAOD at age 58. I can only hope now that my daughter has been spared and that she inherited the normal gene from her mom. 50/50 is scary odds.
Oh Thunder, there is nothing I can say that the others haven't already so eloquently offered. You, your dear wife and precious daughter are and will continue to be on my prayer list. Arms around and around, Susan
Thunder, if your daughter knows the possibility that she could inherit, suggest, as rachelle said, that she talk to a genetics counselor and get a solid take on the rameficationsof being tested or not. As I said above, my handicap, while not a killer like EOAD, is passed in the same way. 50/50 chance. When we married in 1974, we had been told even then, my chances of passing it on were no different than anyone in the general population. Born in 1977, my Daughter was checked for symptoms at the Clinic I go to in 1979--by then they knew genetics were involved. No signs. As I said, once testing started becoming available I was tested, but even then my error had to be isolated at the Baylor Research Center. They are the ones who then matched my family against my results and found no one else had the error. The actual decision to be tested is your Daughter's. My instinct would be to encourage her to do it, when hshe's ready. Whichever way it comes out, she'll be able to plan as full a life as possible, with no recriminations. Hang on to that 50% who don't get it--she could be one of them. I'm praying so.
Hi Carosi, I understand what you are saying.... and I agree. Some time ago my daughter and I discussed all of this with Sharon's neurologist. My daughter, Kathleen, is aware of the testing that is available and also of the stigma of having a positive test in your medical history. We decided together that she had time (she is only 23) to make that decision. I did not tell her that I had her mom tested. I went ahead with that on the chance that it would come back negative. (so much for that) I did not tell my daughter that I was doing it specifically so she wouldn't feel pressured to know the results. When the day comes that she really wants to know she will approach me and I can tell her then. In the mean time I feel like a time bomb... everything about this disease sucks.
We don't have a genetic issue, but in reading these comments, this occurred to me: If you have (or a child(ren)) has the test and it is positive, does it affect ability to get insurance? It won't eventually, but for now? Just curious because when one of our sons was giving us "grief" as a teen, we went to family counseling. Later, insurance refused coverage for me because I was "unstable." Eventually, after much correspondence, I got it, but...I hadn't even thought about it's being in my health record for an insurance company to review.
Yes, Zibby, a positive test would most likely make it difficult to obtain life insurance or mortgage insurance etc. That is why the genetic counselors (that our family met with) advised our adult children to wait a few years to be tested (until they hopefully had such insurance in place). Mind you, insurance companies might refuse coverage to one of our adult children just based on my medical history of having two genetic conditions. But I believe such a decision could be contested . . . however, the outcome of that might be favorable and might not be. Due to nature of one of the genetic conditions, our adult children have been advised to begin screening tests (starting at age 25) if they choose to wait on the genetic testing although not to put off the genetic testing too long. Both conditions I have are also autosomal dominant (so 50/50 chance which really is a 1 in 2 chance . . . ). I am being cautious about specifying actual conditions in case one of my adult children stumbles on this site and realizes that rachelle (not my real name) is their mom . . . my DH has no confirmed diagnosis yet (although PCP says it likely is some type of dementia . . . hubby hasn't agreed to testing though) so I want to be careful what I post here. But one of the genetic conditions is significantly serious and it was really tough to share with my family as they all know what one older family member's experience has been with the condition over many years. Plus when it was confirmed that I tested positive, I was also realizing that my DH was having difficulty cognitively . . . and it didn't help that he wasn't able to comprehend or retain the medical information I was sharing with him. I had gone through the screening testing and genetic testing without saying anything to our children . . . figured there was no need to worry them unnecessarily if my results came back negative (even though my gut feeling----and the genetic counselor's sense also----was that my results would be positive based on some medical history). Sure enough, it was positive and then I was faced with how and when to tell the family.
rachelle--you are so right. We were fortunate regarding insurance situation. First I was already diagnosed , so insurance issues for me are what they are. Secondly, having the Research Center match family samples against my error, was not an official recorded test--more a screening. Since no one matched my error (has it), we got the best answer. I feel this for all of my family but especially regarding my Daughter. It was so upsetting after being told in 1974 that chances of passing it were next to nil to having her in 1977, to having a first clinic exam to look for symptoms in her (precautionary) because it is genetic (but no tests available yet)in 1979. CMT is not a life shortener but it does eventually affect what you're able to do, slowly progressive.
There is a couple where my husband is. The wife has AD and the husband does not. They are both in their 80s. He is such a good caretaker of her and she always looks lovely. Unfortunately, their daughter (approx 60) has recently been diagnosed with AD. Her husband is having a very difficult time dealing with it. In some ways I can't blame him on that - he saw what his father-in-law has gone through up to this point. That has to be so scary to realize that you are also in the same boat.
I have very mixed thoughts about genetic testing. On the one hand it is good because you have the opportunity to make decisions before you are affected by a disease/problem. On the other hand with current laws and practices, it could give you a stigma long before you are ever affected.
There was a wonderful e-mail going around that talked about living your life to its fullest. None of us know when our time will come. It is not about how long you live but what you do with the time you have. Knowing about the potential future gives you a chance to choose your life experiences that you want to enjoy and the opportunity to do something about it.
my Father in law died at 67,had AZ for 8 - 10 yrs.Myhusband is 73 AZ started at 65,we have a son and a daughter,sshould my AH be tested? What a scary disese.
We knew there was a chance my hb would get it since on his father's side almost everyone has had it. When his sister was diagnosed at age 55 in 2005 we knew it was getting closer but we had him prayed over years ago and believed he was healed. For some unknown reason he was not and after a couple years had to face it in 2008. I use to feel bad I could not give him a child but now I am glad I could not. I don't think I could handle knowing I passed this horrid disease on to a child. If our kids, who are adopted, have any genetic illnesses - we are not responsible. His sister has two daughters and I am sure they are wondering if they will succumb to the disease and/or if they passed it on to their kids. My bil does not want to be tested to see if there is a gene that runs in the family. I wish we had the money to find out if my hb has any of the genes they have linked to this disease just to know if it does run in his family.
And, I wonder, would we really want to KNOW at this late date? not me. I hope euthenasia is legal by the time I'M wigging out and drooling. REALLY don't want to put any family that remains caring through this hell.
Groups push physician assisted suicide which we have in Oregon and Washington but it is really not needed. People who are on pain meds just need to save one here and there. In time they will have enough to be lethal and can then take it.
My mother always said that when she started to forget like her mom, she would end her life. Problem was: she forgot! (wish she hadn't though)
In my support group there are members of a family of 5 children (all now in their 70s+) 4 have/had AD. (A parent of this group of 5 also seems to have had dementia) One member is a spouse of this group of 5.
Also attending is a daughter of one of these 5 (now taking care of her AD mother) the daughter is in her 50s. She is currently fine and sees no reason to be tested. (her mother and grandparent both have/had AD) She expects to live a long and happy life. She has not verbalized any personal preparation for the possibilty that she will develop AD. (she has kids too)
Every case is different but with that much AD in one family I cant imagine why you would not want to know. At least to get prepared . . . . .
Thunder--If your daughter does get testing and has the bad gene(s)--she needs to know that there is a way she can have children and ensure that they do NOT get it. After a doctor heard me speak at a conference on EOAD, he approached me and told me that if my stepdaugher tested positive for EOAD, she could have artificial insemination and they would implant embryos that did NOT have the bad gene. I didn't realize this was a possibility (I think she's already had all the children she is going to), but people should know that this option is available. Because it ran in his family, the possibility of passing the disease on to future generations was a major concern to my husband and me, but the EOAD gene hadn't been discovered yet when we were contemplating having a family.
m-mman, The situation you describe would not be helped by genetic testing. Currently there is a test for the APOE E4 allele which is a risk factor only for late onset AD. Its absence is not assurance that you will not get AD and its presence is not assurance that you will. It is simple an increase in risk. The testing that my wife had was for APP, P1 and P2 genes... all of which are predictors for Early Onset AD... not late onset. And they are actual predictors... if you have the gene you get AD... every time. In fact the presence of the mutated form of the P1 gene is associated with early onset and rapid progression.
MarilynMD... I have no idea how far forward my daughter has thought this thing. I do know that she is not planning on getting Married any time soon and kids are out of the question till then at least.