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      CommentAuthorLynne
    • CommentTimeSep 4th 2009
     
    We got back from Italy last night. We had a fabulous trip and Ian was brilliant the whole time we were away. If you didn't know he had AD you wouldn't ever have guessed anything was wrong with him. I suppose, it's easy when for 9 days all you need to do it get dressed, and then choose what to eat/drink/where to visit and be waited on hand and foot...

    He got confused about his cutlery over dinner a couple of times, and he lost various items, (and he got muddled about the ladies and gents conveniences which could have been kind of embarrassing, but luckily he realized in time) but these sort of things could happen to anybody...right..!

    He didn't have any bad days (by this, I mean, days where he sleeps all day, or sits around mute), he was able to come to Capri, to Pompeii, and went swimming with Kate and I. It was like having the old Ian back. He even made jokes and joined in conversations with strangers (before this Italy trip, Ian had no confidence to talk to strangers and would clam up)

    We had a phone call this morning from the Genetic Centre who have been testing Ian. They confirmed that he has the fault gene 'Presenilin 1' which causes EOAD. They told us that with this gene (which is apparently the most aggressive fault gene, with the other two well known fault gene's it's possible to carry the gene, but will not necessarily develop EOAD. Anyway, they confirmed that Ian certainly does have EOAD without a shadow of doubt as you cannot carry Presenilin 1 and not develop EOAD.)

    We were 90% expecting this, but after the good progress while we were away (and the hope that came with that) since we had the news this morning I feel like my whole life has fallen in on top of me. I feel listless, depressed, hopeless. None of the usual things I do to place myself in a more positive mood are working. I want to cry, but I don't want Ian to see how upset I am.

    I felt fine this morning before we had the news. Why can't life just be simple for once...???

    Lynne
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      CommentAuthorNikki
    • CommentTimeSep 4th 2009
     
    ((Lynne)) even though expected, it is crushing news! One can't help but be deeply effected by such news :(
    I am so sorry, for all of you ((hugs)) we just a whole thread on crying, it really does no good to hold it in. Make some private time for you over the next few days so you can let your feelings out freely. We have all been there, we understand. Keep sharing, it really does help.
    • CommentAuthorJudy
    • CommentTimeSep 4th 2009
     
    When you get your 'second wind', and hopefully it will come soon, I hope you can
    focus more on your good trip to Italy and all of those good days that were spent there. I think we would all feel very much like you right now. Like being dumped on by a cement mixer. Hard to pull out of something like that BUT even without being told 'for sure', we often know anyway. I knew, my gut knew even though I argued back and forth in my head..watched my DH like a hawk, more for confirmation that he was actually ok.. (we all make mistakes) until it became more
    that we seriously needed to know so that we could combat this THING. Having
    this news now, could possibly get medications started early enough to delay or
    prevent the progression. We had no help from the medical community, no social worker to advise a plan of care but I'm sincerely hoping you will. Bless you..
    • CommentAuthordivvi*
    • CommentTimeSep 4th 2009
     
    Lynne, first off welcome back and so happy your trip went well! we always have the hopes that the drs are wrong and things will not be as dire as they present at first diagnosis. yes the news is devastating and affirms our worst fears and we lose hope that with time they may not progress to the worse of the disease. i am sorry you had this news but you can now plan for the future accordingly. make good use of your times left to enjoy trips like this one. divvi
    • CommentAuthorscs
    • CommentTimeSep 4th 2009
     
    So glad you had a wonderful trip..try to hang on to those feelings.

    Simple life...Oh the horrors of this disease are the "roller coaster" feelings. While you were expecting this news the finality of it is very depressing... you still were hopeful. That is what makes you an excellent caregiver....hope! It will take a while to move into acceptance and from my experience acceptance is a two edged sword. I have found more peace in a way....trying to accept my DH as he is and not exhausting both of us with unattainable expectations. However, on the other hand, I feel guilty if I do not continue to provide the stimulation and new experiences ( as you did on your trip) to maintain his quality of life.

    All I know is that you are a wonderful wife, and while you need to look to your future to prepare for the work that has to be done, try to enjoy today with the knowledge that you will continue to have some goodtimes as you did in Italy.
    • CommentAuthorscs
    • CommentTimeSep 4th 2009
     
    Oh Divvi..we must have been writing at the same time! Sounds like I was peeking over your shoulder...

    Wonder if you feel the same way about acceptance? Sandy
  1.  
    Lynne welcome back. We all keep hoping-only to be kicked in the teeth, again
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      CommentAuthorLynne
    • CommentTimeSep 4th 2009
     
    Thank you for your comments....I still feel what can only be described as BLACK...! Like there's a huge empty black void. I'm hoping it will soon pass. I don't feel like eating so I know it's bad. (I always lose my appetite when I feel depressed)

    I'd like to tell Ian's doctor about how well he did away in the sunshine. I wonder was it the weather, or the change of scenery which made the difference. He really was almost like he used to be before he got sick. I find this strange.

    Even today, he's been asleep on the couch for a spell this afternoon. It's almost like, being home is bad for him. I don't quite get it.

    I'm going to post the remaining holiday photographs on my Facebook account, in the hope that will cheer me up even a tiny bit...

    Lynne
  2.  
    Lynne:

    For the record ALL of the familial EOAD genes will result in getting the disease before age 65- I know this because my husband also has eFad. I have been in contact with a few caregivers across the states whose spouse's also have the genetic mutation. One friend's spouse has the PS1 gene and her husband has progressed very slowly. She attributed this to excersise and being socially active.

    You may want to consider enrolling him in a clinical trial. My husband will be receiving his last infusion in Elan's Bapinuzimed study soon- we will then go into the open label by year end and he will receive the drug. So far so good.

    Enjoy every day that you have together. Glad to see you had a good vacation.
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      CommentAuthorLynne
    • CommentTimeSep 4th 2009
     
    We were advised to read this article by way of information by the hospital...

    Presenilin 2 in not a dominant gene, and therefore not all carriers of the gene go on to develop EOAD.

    I'll look into a clinical trial.... Thanks. Good luck for you and your husband with your clinical trial. I really hope it helps you, even if it slows it down, it's something.






    Preseneilin 1 and 2 Genes

    Apolipoprotein E Gene


    GENERAL INFORMATION
    A variety of genes have been linked to alzheimer's disease including interleukin 6, alpha 2-macroglobulin, cathespin D, apolipoprotein E, presenilin 1, amyloid precursor protein, and others. Some genes have a major influence on the risk of contracting alzheimer's disease: such genes as presenilin 1 and amyloid precursor protein. Other genes,such as alpha 2-macroglobulin, are of less importance. Some alzheimer genes run in families,generation to generation. When alzheimer's disease runs in families like that, it is referred to as familial alzheimer's disease. About 5% of all alzheimer cases involve genes that run in families. The three genes involved in familial alzheimer's disease are: mutations in the amyloid precursor protein,mutations in presenilin 1,and mutations in presenilin 2. Familial alzheimer's disease strikes its victims as early as age 30,but usually between the ages of 40 and 60. When alzheimer's disease occurs before age 65, it is referred to as early-onset alzheimer's disease. Early-onset familial alzheimer's disease not only affects people at an earlier age, but it also is more virulent, and those affected by it suffer a swifter cognitive decline than those with late-onset alzheimer's disease. Late-onset alzheimer's disease, occurring after age 65, has a slower clinical downard progression.



    PRESENILIN 1 and 2 GENES
    Presenilin 1 is a protein found in brain cells. Its function is unknown. However, it may be involved in protein production and trafficking, especially during early development. More than 40 different mutations have been found in the presenilin 1 gene, and these mutations associate with early-onset familial alzheimer's disease. The disease strikes as early as 28 and as late as 62, with an average age of onset in the mid-forties. Mutations in presenilin 1 tend to elevate levels of amyloid beta in the blood, cerebrospinal fluid, and brains of those affected by mutations. Again, mutations in the presenilin 1 gene are dominant. This means that if a mother or father has the mutated presenilin 1 gene that causes alzheimer's disease, then each of their children has a 50-50 chance of having the mutation. Those children with the mutation have an almost virtual certainty of developing the disease.
    Presenilin 2 is a protein found in brain cells. Its function is unknown. Only a very small amount of early-onset familial alzheimer's disease is caused by mutations in the presenilin 2 gene. Only six different mutations have been isolated, in five German families and one Italian family. Presenilin 2 mutations are not dominant. That is, not every person affected by the mutation develops alzheimer's disease. The reason for this is not known. Genetic testing can identify who has a mutated APP, presenilin 1, or presenilin 2 gene. Most genetic counselors advise that genetic testing makes sense for families where mutations in APP or presenilin 1 abound, since the mutations tend to be dominant. Genetic counselors are not as certain about genetic testing for other alzheimer genes, such as apolipoprotein E4, since this gene is not dominant. That is, not everyone with an apolipoprotein E4 gene develops alzheimer's disease. Further, many persons with alzheimer's disease do not have an apolipoprotein E4 gene, which we will discuss next.

    APOLIPOPROTEIN E4 GENE
    Apolipoprotein E is a protein found in the brain, cerebrospinal fluid, and bloodtream. Apolipoprotein E protects brain cells and is involved in cholesterol transport. Three genetic forms of apolipoprotein are known. These forms are called E2, E3, and E4. About 15% of the Caucasian population has an E4 gene. Persons who inherit an E4 gene from a mother or father have a more than 3-fold risk of developing alzheimer's disease late in life, after age 65. People who inherit an E4 gene from both mother and father, have ten times the normal risk of developing alzheimer's disease after age 65. It is not clear why or how E4 increases risk. The E4 allele is not dominant.This means that not everyone with an E4 allele develops alzheimer's disease. In fact, only about half of those positive for an E4 allele ever develop alzheimer's disease. Some other factor other than the E4 is needed to produce alzheimer's disease. For example, factors in the environment,may delay expression of the E4 gene. Genetic counselors do not advise being tested for the E4 allele, since is is not certain that everyone with the E4 allele develops alzheimer's disease.
  3.  
    Lynne:

    I stand corrected. The information I read must be out of date. Excerpt from Genetic testing:

    http://www.genetichealth.com/ALZ_Genetics_Testing_In_Healthy_People.shtml

    Mutations in APP, PS1, or PS2 all virtually guarantee that a person will develop Alzheimer's disease. However, there is a fourth gene – called APOE – that is also involved in determining Alzheimer's risk
  4.  
    I think coming home from great trips can be a let-down under the best of circumstances. Your mood seems completely to be expected, to me. It will normalize to whatever status quo is available.
  5.  
    Welcome back,Lynne. I'm so glad you were able to have a terrific trip! I followed you on FB and envied all the great food (-:) (grin!) I do hope things will level out for you and Ian. Keep posting and updating us. We're here for you.
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      CommentAuthorfolly*
    • CommentTimeSep 4th 2009
     
    Lynne, you just got your worst fears officially confirmed. Give yourself a little time. I'm happy for you that the trip went so well.
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      CommentAuthorStarling*
    • CommentTimeSep 4th 2009
     
    I'm going to make a suggestion that I don't often make. Get your husband into cognitive therapy. It won't stop the disease, but it might give him enough strategies that it will slow the earlier stages down. We discovered that it was dementia and not just a stroke-like situation because my husband's family doctor started us on our diagnosis journey with cognitive therapy. If I'd gotten him there a year or two earlier he might have had several better years.

    He STILL writes the date down every day. Until last month he could still sign his name, and he might still be able to do it, but I stopped trying to get him to do it at the monthly blood test a couple of months ago. It is the only thing left from the 6 months of cognitive therapy, so I know that if we had gotten the whole calendar and notebook thing started earlier, he might have functioned better much longer. I think it is worth doing for anyone in the earlier stages of any dementia.
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      CommentAuthorJeanetteB
    • CommentTimeSep 4th 2009
     
    Lynn, his sleeping now might be just exhaustion after all the excitement and effort of the trip. Glad you had a good time! I'm sorry about the bad news, too bad it had to come so soon after your trip.

    But later the good memories of the successful trip will be back to cheer you (here I do speak from experience).
    • CommentAuthorCharlotte
    • CommentTimeSep 4th 2009
     
    Lynne - for a brief time life was 'normal'. Sounds like so normal you wanted to believe the diagnosis was wrong. I am so thankful you had the week of 'normal' - something you can treasure. There may be even more times like it. Who knows?

    When you spoke of how you feel, it reminded me of when I would come home from women's retreats. I would be on 'cloud 9' because I had breakthroughs or other great things happen. But one thing we were warned and learned first hand was that there will be an end to it - when the enemy will cause something to happen that will 'burst our bubble'.

    That has happened to you - too quickly. You came home on 'cloud 9" (do they use that phrase in England?) and then the doctor burst your bubble. You are down, but not out. You will pick yourself up and rise again. Look at the photos, remember the great time you had - don't let this disease steal that from you. I know you are an overcomer - you have to be to compete successfully in the horse competitions that you did. As you do this, you will rise back up and find a medium where you can again function and not be in the dark tunnel.
    • CommentAuthordivvi*
    • CommentTimeSep 4th 2009
     
    SCS. i do concur with your double edged sword of acceptance. its a very difficult road to acquire but once you have accepted the limitations and less in the way of expectation it becomes much easier and less stressful. it took me a very long time to get there. divvi
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      CommentAuthordeb112958
    • CommentTimeSep 4th 2009
     
    Lynne,

    I think part of the way you are feeling is a let-down from the vacation. I know that the last time we went away we visited some old friends in Phoenix for a week. During that week they took care of everything, even making sure my husband was occupied as much as possible. They wouldn't let me do anything unless I just started doing it like setting the table or putting the dishes in the dishwasher. It was wonderful. Everytime I asked if I could help or I would get it myself I was asked "does anyone wait on you at home" and when I would say no they said "well then let us".

    Well, went we got home I actually had a harder time day-to-day. I think because my routine was also off it kind of tipped me over the edge and for about a week after we got home all I wanted to do was cry. Vacations are lovely but the real life stuff gets in the way when you are back home.