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    • CommentAuthorSharan*
    • CommentTimeOct 2nd 2008
     
    Hello! I am new to the forum. I am glad to have found you, but not glad for the reason we are brought together. I need some help from "real people" - not that doctors aren't real, but sometimes they speak Greek when it looks like they are speaking English.

    I am still waiting to get a "definitive" diagnosis - one more specific than "dementia of unknown type" would be nice). We only got that diagnosis 2 weeks ago.

    We have an appointment with a doctor in Dallas that studied at Johns Hopkins, but that appointment is not until November 6th - which seems like FOREVER right now.

    The neurologist tested my H for Parkinson's, Wilsons, Huningtons, and lots of other things (including syphillis). He actually started testing my H almost 3 years ago, when my H had myclonic jerks of epic proportions (200 times in 10 minutes would not be unsual - seriously, we counted them). All of the tests were negative or normal, as the case may be.

    The diagnosis might be easier for me to accept if the doctor had said - "your H has AD." Instead, he said my H has dementia, but he wont tell me anything more right now because he is not sure of the type (or doesn't want to tell me) - that's why he wants us to see the Johns Hopkins doctor. The neurologist said that he didn't want to grasp at straws with me; that he wants to get the specialist to help with the diagnosis. A part of me feels like that specialist is going to tell me my H has the rare and fast AD. My fear is supported by fact, I wish I could say differently. The doctor told me that my H has about 2 years (not 6 or 9 months) if we cannot slow the progression AND my H has been on a nose dive for the last 3 years, going from "normal" to "moderately severe with severe memory impairment and severe executive dysfunction."

    The assessment of "moderately severe with severe..." came from a neuropsych evaluation done about 3 weeks ago. All of his findings were consistent with what I have observed; I just didn't know how to explain what I was seeing. Does moderately severe cognitive impairment mean my H is Stage 5? Does the added "severe memory impairment" and "severe executive dysfunction" mean his is in Stage 6? They say my H is moderately retarded according to some test and has lost 10-15 IQ points. Their benchmark is, however, off the mark. I believe my H has actually lost more like 20-30 points (he was a commercial HVAC specialist working with high voltage electricity and has done other highly technical engineering; he was, actually, gifted with machines of all kinds). Any way, I still don't know what that means.

    My H can still dress himself (though often with mismatched pieces) and can handle personal grooming (nails & other longer term items still require reminding), cook simple meals, and do laundry (if he's reminded to take the clothes from the washer and from the dryer, and the clothes don't end up where they belong, but he's doing something that is helpful).

    He hides his memory loss, which is why I cannot say he did not have memory loss or other symptoms before August 2005. The man was mowing the yard, had shortness of breath and chest pains so bad he had to stop and throw up, then got up and finished mowing the yard. I did not learn this fact until we were in the hospital in August 2005, when we learned that he needed a triple bypass surgery URGENTLY (as in, the next day). His LAD was 99% blocked, his CX was 70% blocked and another artery was 66% blocked. He told me in January 2004 that he went to a cardiologist for his chest pains and shortness of breath (at my insistence, of course) and he told me that the treadmill was "normal." What he didn't tell me was that the doctor was really just an internist and that the internist said my H should have additional testing because of his chest pains to make sure everything was ok. I learned this, too, in August 2005 when he told the cardiologist after utterly and completely failing the treadmill test ... in front of me, no less. Geez! I freaked out when the chatty Kathy nurse went white and ran from the room in response to some red signals flashing on the machine.

    So, my dear husband was hiding his health problems from me for quite a while. He would say, in his defense, that he didn't want to worry me. The truth is that he was afraid and, perhaps, he was experiencing the early stages of AD - forgetting the doctor's instructions COULD have been a memory problem or, as we call it, "selective amnesia." I will never know now because he can't remember and he always says he is OK - even though the doctors say the test results show my H is extremely depressed and potentially suicidal.

    What is real? Can anyone help me to understand or interpret what the doctors are saying and not saying?

    Thank you, in advance, for your help.
    • CommentAuthorMawzy*
    • CommentTimeOct 2nd 2008
     
    I'm sorry that I'm not going to be of any help to you. Wish I could. What I really want to say is that you've come to the best place. Someone out there will answer your post shortly and they will be able to give you some very good information. Sorry you have to be here. But, glad you've chosen this place for relief. Blessings, to you and your DH.
    • CommentAuthorSharan*
    • CommentTimeOct 2nd 2008
     
    Thank you, Mawzy. It's nice just be heard. Wishing you all the best that life has to offer!
    •  
      CommentAuthordeb112958
    • CommentTimeOct 2nd 2008
     
    I'm sorry that you had to come here. I don't know how much help I can be but my 59 yr old husband was diagnosed this summer with probable FTD. Before that he was tested for everything under the sun and since he did have depression he was first sent to a psychiatrist to get that under control with medication as that can also cause dementia-type symptoms. I would make sure that the depression is handled.

    Was your husband given a CT or MRI? These are helpful in showing certain types of dementia. My husband has atrophy (shrinking) of the left temporal lobe of his brain which is a sign of FTD (fronto-temporal dementia). My husband also had neuropsych testing and his testing was anywhere from slightly impaired to severe impairment especially in his executive functioning and abstract thinking. I'm not sure about staging as we were never given any info on that.
  1.  
    Welcome Sharan. I plead ignorance too but I am sure others are preparing some information for you because some of your symptoms
    sound familiar.

    I will tell you, the first Neuro we went to sent him to be tested (The long 6 hr. test) Their conclusion was AD. I was in denial and
    wanted a second opinion so I took him to Cleveland Clinic and they also gave him the 6 hr. test and they said he had mental decline but NOT AD. 2 years later I took him to WVU Hospital and they also did the 6 hr test and after a couple visits settled on Parkenism/Alz. and Vascular Dementia. These diseases have been hard to diagnose but they seem to be doing better now, so I think a second opinion would be a good recommendation.
    • CommentAuthorKadee*
    • CommentTimeOct 2nd 2008
     
    Sharan, I can understand your wanting a definite diagnoses, my husband's problems really started 8 years ago with Absence Seizures, then the memory problems started 5 years ago. Since his Grandmother & Mother both suffered from dementia & passed away. I was almost positive he had some sort of dementia. Over the past 8 years he has had 5 MRI's, 2 PET Scans, EEG's including the 24 hour, numerous blood test...including the gene test. Not one test confirmed he had Alzheimer's or any other dementia. However, he declined every year. He was placed on memory medications, just in case.
    Until July of this year, there still was no definite diagnoses. The Neurologist kept telling me if it were Alzheimer's he would be in the later stages by now since the problems started at age 50. I researched Absence Seizures until I was blue in the face & could find no information as to where extreme memory loss was a symptom. Finally, the Neurologist ordered another PET Scan, this time the scan showed that he has Frontal Temporal Dementia. The memory medications are no help with FTD, so I wonder now if they have hurt more than helped.
    Probably not much help, however, It does seem to take time to confirm what type of dementia you are dealing with. Unfortunately there are many.
    • CommentAuthorSunshyne
    • CommentTimeOct 2nd 2008
     
    Sharan,

    Welcome to our little family.

    I know going without a "name" for your husband's problem is frustrating, but you are blessed that your neuro understands how difficult it is to diagnose a disorder that causes dementia. Far too many just slap the word "Alzheimer's" on a patient with little or no testing at all, hand over a prescription for aricept, and shovel him out the door.

    Getting an accurate diagnosis is very important for determining what treatments might be appropriate, and which should be avoided. As Kadee noted, the cholinesterase inhibitors that are usually prescribed for AD patients do not help FTD patients, and can cause serious side effects in some.

    It does sound as if your husband's problem may have a vascular component -- vascular dementia or a mixed dementia. I also wonder if part of his problems are due to poor or fluctuating blood circulation to the brain. Has he been tested for this, for example, a 24-hour EKG, and/or a carotid ultrasound?

    Also, it sounds as if one of his symptoms is "anosognosia", which basically means that your husband does not know that he has problems. It doesn't help with a diagnosis, but it may help you understand his behavior. He may not have had any idea that he had serious heart problems. And when you have no idea you have a problem, you see no reason to do anything to fix it. There's a good article on anosognosia at:

    http://alzonline.phhp.ufl.edu/en/reading/Anosognosia.pdf
    • CommentAuthorSunshyne
    • CommentTimeOct 2nd 2008
     
    Oh! with regard to what stage your husband is in ... there are a number of sites that describe the stages. They're kind of helpful, but many patients (most? all?) do not fit neatly into any given category. Some people use three stages, rather than seven, just because it's so hard to categorize a given patient into one of seven stages. Others using a seven-stage system break out the last couple of stages into sub-stages. (Just to confuse you as MUCH as possible!)

    http://www.alz.org/alzheimers_disease_stages_of_alzheimers.asp

    http://www.theribbon.com/articles/3stages.asp

    http://www.alzinfo.org/clinical-stages-of-alzheimers-disease.asp

    http://www.alz.org/national/documents/brochure_latestage.pdf

    http://bigtreemurphy.com/Reisberg%20FAST.htm

    http://bigtreemurphy.com/Gwyther%20Figure%20IV.htm

    http://bigtreemurphy.com/SOC%20STages%20of%20Alzheimer's.htm

    http://geocities.com/caregiving4alz/stages_of_alzheimers.htm
    •  
      CommentAuthorStarling*
    • CommentTimeOct 2nd 2008
     
    Welcome. It is OK to vent here. This is a safe place. It is OK to ask questions. There is a wealth of information to be had.

    Dementia is a symptom, not a disease. If they figure out what it is a symptom of, they will tell you what it is. Your husband does sound like he has some form of Vascular Dementia because of the heart issues, but...

    If they can't figure out what it is they will say Alzheimer's for two reasons: 1. It is the most common reason. 2. Once they have checked for everything else and haven't found an answer, that is what is left.

    A good doctor will run through a checklist that will include some easy to fix diseases like low thyroid. They will do blood tests and CAT scans or MRIs, and even PET scans in some cases. When they figure out what is wrong the physical tests will stop.

    Except for patients with FTD, the dementia drugs may or may not help. With FTD patients the drugs more often cause problems, which is another reason to make sure that isn't the problem before medicating.

    It sounds like your doctors are doing the right things. And you are too. Getting yourself educated is a good thing to do.

    You don't say how old your husband is. The rare form of dementia that moves very quickly generally only hits very young patients.

    As for the stages, go to the web pages Sunshyne gave you to find a list of stages and symptoms. Start with stage 2 (stage 1 is the baseline normal adult) and ask yourself if your husband has those symptoms. When you hit a stage where he doesn't have any of the symptoms, pull back one level and read that level again. You will probably have reached the actual stage your husband is in.

    In general, If someone is in stage 5 they have ALL the stage 4 symptoms and some of the stage 5 symptoms and none of the stage 6 symptoms. Needing help in choosing clothing is a stage 5 symptom.

    That "IQ" test is probably actually one of the forms of the mini-mental test. One version has 30 points. Another has 50 points. If you look online under "mini-mental" you will find the 30 point test. Add the word "extended" for the 50 point test.
    • CommentAuthorSharan*
    • CommentTimeOct 2nd 2008
     
    Thank you all for your responses. It helps just to know I am not alone in the confusion. My DH has been tested for many different things, including MRIs, carotid arteries, Parkinson, Huningtons, Wilsons, tons of blood work (especially when he was in the hospital for a triple bypass surgery he had in August 2008), and even syphillus - all normal. Your guidanceon the stages is helpful. I believe he had an EEG a couple of year ago, but he has not had any PET scans or other sophisticated testing - except he has had sleep studies (several) and was diagnosed with Central SleepApnea.

    My DH went through the full day of testing by a neuropsych, one that 3 different specialists recommended. He has been dignosed as having major depression and general anxiety disorder. One concern I have is that the testing by 3 different psychologists shows that my DH's tests show that he has extreme depression and anxiety - highest levels, consistently. He was hospitalized 2 times last year with suicidal thoughts, plans, and desires. Yet, he now says that he is not suicidal. Is it that he does not remember that he is so depressed and anxious?

    My DH is 51 and the symptoms seem to be progressing much faster than any I have seen on the blogs, which suggests to me that he may have the rare type that moves fast. Can anyone tell me the name of that type or any key terms that I can use to get more information on it so I can benchmark my DH's experience against the symptoms of that rare type?

    Again, thank you!
    •  
      CommentAuthorshoegirl*
    • CommentTimeOct 2nd 2008
     
    Sharan,

    Welcome...I am glad you found us. Is your husband on any anti-depressants?
    I know it is so frustrating when you are trying to get a diagnosis.
    Unfortunately it seems to be a process of elimination and takes a long time.
    I am sorry for the circumstances that brought you here, but
    hope you continue to join us.
    • CommentAuthorSharan*
    • CommentTimeOct 2nd 2008
     
    I do plan to keep joining you, and appreciate the welcome. Yes. My DH is on Celexa. It has been the most effective anti-depressant that he has taken. Its kinda strange, but his memory loss seems to be helping his depression. He simply forgets what he is upset about. His natural state is mostly optimistic and he's fundamentally a person who does not complain. He never did, even as a child. i hope he keeps this aspect of his soul.
    • CommentAuthorSunshyne
    • CommentTimeOct 3rd 2008 edited
     
    Sharan,

    The "rare form" is called "early onset familial Alzheimer's disease (eFAD)". When researching this, you need to be very careful to distinguish between early-onset sporadic AD, early-onset familial AD, and early-stage AD.

    The vast majority of AD is what's called "sporadic AD". Genes may or may not play a role. Some genes are known to be risk factors. For example, the ε4 allele of the apolipoprotein E (APOE-ε4) is regarded as a risk factor for development of up to 50% of sporadic Alzheimer's. "Risk factor" means that you are more likely to develop AD if you have this gene. However, you can have this gene and not get AD, or you can get AD without having this gene.

    In addition to APOE-ε4, scientists think there could be up to a dozen more "risk" genes yet to be discovered.

    A person who has a parent or a sibling who developed sporadic Alzheimer's disease has a very slightly increased risk of getting the disease.

    Sporadic AD usually occurs in people over 65, but can also sometimes develop in younger people. If the person is younger than 65, the AD is called "early-onset." It is the same disease as sporadic AD in older people.

    There is a special type of "early-onset" AD, called "early-onset familial AD (eFAD)". This type -- which is very rare, accounting for less than 0.01% of all AD -- is inherited. People may develop eFAD in their 30's or 40's.

    There are three genes known to be associated with eFAD at this time (PS1, PS2 & APP). (The PS2 gene mutation may also appear in sporadic AD.) While there are three known genes associated with eFAD, I think there are something like 150 known mutations to those genes that will inevitably cause AD at an early age. The exact mutation that runs in the family determines the age at which AD will develop, and some of the symptoms that are seen.

    Since these mutant genes *always* cause AD, they are sometimes referred to as "deterministic" genes. Deterministic genes are only found in a few hundred extended families around the world.

    And, since these mutant genes always cause AD, for someone to have inherited eFAD, his mother or father would have to have carried the gene, which means that either his mother or father would have to have developed AD at a very young age. It also means that there is a 50-50 chance that any siblings of his carrier parent would have developed AD at a very young age.

    So if there is no other early-onset AD in your husband's family -- if neither his mother nor his father developed AD at a very young age -- then your husband has sporadic AD.

    And that means that your children are not any more likely to develop AD than the average person.

    The rate at which sporadic AD can progress can vary widely. Some patients can have 5 or even 10 relatively good years after diagnosis. Others go downhill very quickly. The average time to death is 8 years, but it can vary from 2 to 20 or more years. The rate of progression is not useful in diagnosing the type of AD (sporadic vs familial.)

    This is an excellent site to read up about the genetics of AD:

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


    Also, the Alzheimer's Research Forum has a lot of information:

    http://www.alzforum.org/

    In the menu on the left, you'll see a yellow box that says "early-onset familial".
    • CommentAuthorAdmin
    • CommentTimeOct 3rd 2008
     
    Hello Everyone,

    I received this e-mail from Dking, and he gave me permission to post it. There have been so many stories on this forum of difficulty getting the correct diagnosis, and being shuffled from one doctor to another with conflicting diagnoses and treatments that I thought this was extremely important and informative. See below:

    I’ve had a very interesting, difficult, mind-numbing week.....

    I started taking my wife to the doctor(s) in 2005 for memory problems. Minor at first, telling the same story over again within 10 minutes, asking the same question, etc. This went on for a year or so. Her old anxiety and panic attack issues resurfaced in 2006 along with more severe memory problems. We were referred to a Neurologist and had an MRI that was “unremarkable”. (a big keyword in the MRI business). Memory and anxiety are two separate problems, of which anxiety is the easiest to fix, plus the Psychiatrist can work on the memory. We got the anxiety under control with daily Lexapro and an occasional Xanax. The psychiatrist was not an in depth kind of guy. If you’re eating ok, sleeping ok and you haven’t been thinking about killing yourself, everything’s basically ok. We started on Exelon and Nameda, without a diagnosis, to address the memory problems. For about eight months, a slow steady, manageable decline in mental abilities, ability to complete or start tasks, etc. Through a colleague, I had an opportunity to get an evaluation from the head of Neurology and Psychiatry at St. Louis University. I wrote up a history of what had been happening and explicitly asked for a diagnosis. He spent about two and a half hours with use running test after cognitive test. No medical tests were performed. His diagnosis was “probable Alzheimer’s Disease with a general anxiety disorder”. His treatment recommendations were exactly what we had been doing for the past eight months. We stayed with the original psychiatrist (who turned out to be a former student of the SLU guy) for logistic reasons (closer to home, easier scheduling, no SSN requirement and his treatment was validated from a highly reliable second source). Diagnosis was on October 31, 2007.

    The was continued decline at a slow and steady pace, until the middle of summer. Pain showed up. In her shoulders, her knees and her hips. We went back to the family doctor. By this time she has little ability to communicate exactly where and how it hurts. We went to an Orthopedic guy (nothing broken, no muscle tears); a neurologist (no apparent nerve damage); an infectious disease specialist(many blood tests, no hits); a Rheumatologist (no arthritis or connective tissue problems). It’s all a big mystery. Meanwhile for a hour or hour and a half, I have my wife screaming in pain. The only relieve is 600Mg of Ibuprofen and getting her into a hot shower. The only comfort I have is that 15 minutes after it’s over, she has no recollection of the pain.

    TOO MANY WORDS FOR ONE POST - SEE BELOW FOR CONTINUATION.
    • CommentAuthorAdmin
    • CommentTimeOct 3rd 2008
     
    CONTINUED FROM ABOVE..........

    Which brings us to last week. By this time I have quit my job to care for my wife full time. On a routine follow-up visit to the family doctor, the doctor was visibly upset at the decline, the speed of decline and the way she looked. Her office is at the medical center. I wheel chaired my wife out of the doctor’s office straight to hospital admissions. For seven days she went through tests. A CT scan of the chest that caught something unusual at the top of the liver, which triggered a CT scan of her liver, pancreases and gall bladder. An ultra sound of the liver; a spinal tap, an MRI and every time she got back to bed a phlebotomist showed up to take some more blood. A pulmonary doctor showed up an found wheezing, then prescribed respiration therapy. The payoff was the second bone marrow biopsy (under sedation). I participated in the first one, holding her up, looking into the eyes of the doctor as he cut, then jabbed the need into her hip bone. I saw his expression when the pulled the syringe back and noting came with it. A dry tap. Each of these tests resulted in a transfer from the bed to a gurney and a trip in the elevator to someplace that required another transfer from the gurney to a table to have something done. Each transfer causes her immense pain. With dementia, regular things are scary enough. This was physically and mentally torture for her. I was her only anchor; stroking her arm, telling her it’s ok, we’re almost done. I wasn’t sure I was going to survive all this. To the staffs of these departments, I was just a civilian that was going to get in their way. I was forced to be a nicer person than I am to bull my way into their testing areas.

    Until four days ago, I was certain that we were about three years into EOAD. It was tracking perfectly with all the information from the Alzheimer’s Association and others. My experiences matched with so many from your website. I was confident in the diagnosis. But I was wrong. The bone marrow biopsy showed that she has small cell lung cancer. A body bone scan shows that it has metastasized and is in all her bones. So the net is that she probably has never had AD. The dementia was part of the way the cancer presented. All doctors concern say this is very rare. So there is a series of good news/bad news songs in this. She doesn’t have AD which you can’t fight yet, but she does have terminal cancer which you can fight. At a minimum the pain will be relieved. The Oncologist says there is a high probability that the dementia will be reversed (not sure to what level). Today is her second day of chemotherapy. She has many more lucid moments. There have been conversations, with abstract thought, questions and appropriate answers. There is light in her beautiful blue eyes.

    Even though I am no longer an AD spouse, please think of us the next time somebody posts to the Rollercoaster thread. It’s been a E-ticket ride so far.

    Thank you for the website and the forum. Even though I’ve only been here a short time, it has been very helpful on several levels.

    I THANK DAN FOR SHARING THIS WITH US.

    joang
    • CommentAuthorLizbeth
    • CommentTimeOct 3rd 2008
     
    Dan, that is an amazing post. What a struggle and such persistance on your part. I am happy that you have already seen positive results from her cancer treatment.
    • CommentAuthorSharan*
    • CommentTimeOct 3rd 2008
     
    Sunshyne,

    Thank you so much for your explanation of eFAD. My mother-in-law definitely does not have eFAD. She is 86 and still lively. She is getting forgetful and doesn't do a lot, but that's normal for her age. My DH's father had a complicated medical/psychological history. He had what they called indifferentiated schitzophrenia with manic-depressive episodes. He started having these problems when he was in his 30s. I have no baseline for comparison of his mental status to assess whether he had any AD symptoms. He did live with us for a few years before he died from a heart condition. He didn't talk a lot and did quite a few strange things in the time that I knew him, but I was completely unfamiliar with AD so I have no idea whether he had AD. I am inclined that the answer is no.

    So, my DH likely does not have eFAD. I will, however, take a quick look at the sites discussing the condition to see if anything triggers relevant memories.

    And, thank you Jouang, for including Dan's e-mail. My DH has been through so much. I appreciate the knowledge that I am not alone, though I would not wish this situation on anyone.
    • CommentAuthorKitty
    • CommentTimeOct 3rd 2008 edited
     
    Dan, my husband had small cell lung cancer. It is the rare type of lung cancer. The doctors are not being honest about the prognosis. I am sorry to tell you this. There is no fight in this. They may give her prophylactic brain radiation, (perhaps not at her stage) which will do little good at this point. At best, she will suffer dementia as a result. I thought my husband had AD when I found this site. He had all the symptoms, but it turned out to be a result of the whole brain radiation. Please let me know if you have any questions. I have done a lot of research. The only reason my husband survived is because it was caught in the very, very early stage. Anything beyond that is a probable early death. Hope I haven't been too honest, but it's just the truth.

    My thoughts are with you. I hope I can be of some help.
  2.  
    Dan, that is an amazing story and many of us can relate to it. Myself, I kept wanting any and all tests because I wasn't and still am not
    sure my H has Altzhimer. I think it possible he may have something else and not ruling out cancer. But the medical community seems
    to settle on AD when you have memory problems. He has severe spinal stenosis with much pain and also some pain in his groin area and I would not be surprised if cancer of some kind were involved, but if so I don't know that with his age at 73 etc. there would be anything done at this point.

    Dan please continue to post and let us know how your wife is doing. I am sure it has been a great relief to get a positive diagnosis even though you don't know what kind of treatment and how she will react.
    • CommentAuthorSunshyne
    • CommentTimeOct 3rd 2008 edited
     
    Kitty, I think Dan understands the prognosis -- he said the cancer is "terminal", and that it has already metastasized to "all her bones". Doctors can't get any more brutally honest than that. There probably won't be any radiation treatment. This is "extensive stage", and the 5-year survival rate for extensive stage small cell lung cancer is about 2%. And the younger the patient, the faster cancer usually goes, and DKing's wife is young.

    That is the "bad" news.

    I think what he meant by "fighting" was that he and his wife can fight the dementia, now that they know it's the cancer that had been causing it. The oncologist said that type of dementia is at least partially, maybe totally, reversible ... and Dan says that even though it's only the second day of chemo, his wife is already much more lucid.

    That is the "good" news.

    Dan now has the hope that his wife will be "with" him until the cancer takes her, and that's a truly wonderful thing. "There is light in her beautiful blue eyes."

    And, bare minimum, they know now what is causing the terrible pain she's been having, and so they can fight that, as well.
    • CommentAuthorKitty
    • CommentTimeOct 3rd 2008
     
    I am glad she will no longer be in pain.
    • CommentAuthorLiz
    • CommentTimeOct 4th 2008
     
    Sunshyne, I'm always amazed at the depth of your knowledge - I'm sure that speaks to your thoroughness as a researcher. I do have a question for you however. You've written that if a parent hasn't had eFAD, then the child can't have it either. My question is kind of the chicken or the egg type. Someone has to have it first in a family, right? I'm not questioning your statement at all, just trying to understand the presence of eFAD in some of our loved ones. Any ideas?
    • CommentAuthorSunshyne
    • CommentTimeOct 5th 2008
     
    Liz, you are absolutely correct, that SOMEWHERE in time, the mutation had to have appeared for the first time. In each of these families, there was a "first" whose parents did not have eFAD.

    But the likelihood of getting exactly the right mutation in exactly the right gene to cause eFAD for the very first time is vanishingly small. After all of the generations of mankind since man's beginning, there are only a handful of families in the world who have eFAD.

    Early-onset sporadic AD, on the other hand, is relatively common.

    So I think it's very reasonable to say that if one of your parents didn't develop AD at a very young age, you don't have eFAD.
    • CommentAuthorLiz
    • CommentTimeOct 5th 2008
     
    Thanks Sunshyne, DH doesn't have any family history of dementia at all. Even tho he was only 54 when diagnosed I'm fairly certain it's the sporadic type. In fact, I'm convinced that it came as a result of emotional trauma that he couldn't acknowledge, let alone handle in a healthy way. I always wonder about our kids, but use the emotional trauma reasoning as convincing evidence that they aren't likely to get AD from their father. Absolutely, positively not scientific reasoning, but it does let me sleep at night...