Diagnosing And Living With Early Onset Dementia

REBECCA ROBERTS, host: Pat Summit, head coach of the University of Tennessee's women's basketball team, is a legend in college sports. Her teams have won more games than any other college coach ever. Yesterday, Summit announced that she's been diagnosed with early-onset dementia at the age of 59, and that with the support of her team and colleagues, she plans to keep coaching as long as possible. But what exactly is early-onset dementia? Who gets it? How is it diagnosed? What might that diagnosis mean for patients?

In a moment, we'll speak with Creighton Phelps with the National Institute on Aging, and we'd like to hear from you. If you or a loved one has been diagnosed with early-onset dementia, tell us your story. Or if you have questions about the disease, give us a call. Our number is 800-989-8255. Our email address is talk@npr.org. And you can join the conversation at out website. Go to npr.org and click on TALK OF THE NATION.

With me now to help us better understand early-onset dementia is Creighton Phelps. He's director of the Alzheimer's Disease Research Centers Program at the National Institute on Aging, and he joins us today from a studio at the National Institutes of Health. Welcome to TALK OF THE NATION.

Dr. CREIGHTON PHELPS: I'm happy to be here.

ROBERTS: First, let's define what we're talking about. Pat Summit's diagnosis is early-onset dementia, Alzheimer's type. Some people think dementia and Alzheimer's disease are actually the same thing. What is the distinction, here?

PHELPS: OK. Dementia is a group of symptoms that can be caused by any number of different either diseases or conditions. Alzheimer's is the most common type of dementia in the elderly.

ROBERTS: So if you exhibit signs of dementia, there could be several different underlying causes.

PHELPS: That's correct. It can be other diseases. It could be what we call polypharmacy, where drugs are interacting with other drugs and leading to confusion, memory loss and so forth that might look like Alzheimer's disease.

ROBERTS: And you said - what was the percentage that is actually caused by Alzheimer's, the majority?

PHELPS: The vast majority, yes, probably about 60, 70 percent.

ROBERTS: And how prevalent is dementia among people the age of someone like Pat Summit, 59?

PHELPS: It's not very prevalent at that age. The - she has what may be the very lower end of what we call sporadic Alzheimer's disease. I don't know anything about her case, so I can't really say anything about it. However, knowing other people in general, people at that age are right on the cusp, almost into the area that we would call late-onset disease, which is after 60.

ROBERTS: And what - how does something like that typically manifest itself? What sort of symptoms might lead someone to try to get this diagnosis?

PHELPS: Usually, you look for a change in previous - from previous behavior. So being more forgetful, maybe getting confused, exaggerations of missteps that maybe we make in ordinary life just happening more often, like forgetting keys more often, maybe having a little trouble calculating a checkbook, making change, these kinds of things are very early signs.

ROBERTS: And how do you know what is abnormal? I mean, we all forget our keys now and then.

PHELPS: We do. But if it's happening more often, we look for the change from previous behavior, and most people - either the family members will recognize it, or very often, the patients themselves recognize it. Something's just not right. I'm different now than I used to be.

ROBERTS: And so when somebody - say, a family member - says listen, you're getting worse about this. This is not normal for you. What do they do? Do they typically go to a GP?

PHELPS: That's usually the first stop, is to go to your family practitioner just to see if there's anything that they can find that might explain what's happening. It might be changes in blood pressure. It might be, as I said earlier, drug interactions, if you're on lots of different prescription drugs. So that would be the first step, is to find out, is there any explanation for this...

ROBERTS: So...

PHELPS: ...other than, you know, dementia itself, which is caused by - usually by a disease process.

ROBERTS: So is dementia sort of a diagnosis of exclusion of other things or is there an actual physical manifestation that a doctor can test for?

PHELPS: With - at that early stage, we - in research settings, yes, you can look at changes in the brain structure that you can see with imaging techniques or measure spinal fluid to see if protein changes are occurring. However, we don't use those routinely in diagnosis yet. This is the future. So right now, many - if they go to a research center, they're going to get a lot more testing than if they go a GP.

ROBERTS: And what might those tests consist of?

PHELPS: Looking for abnormal proteins in the brain, like there's a substance of protein that's deposited in the brain in Alzheimer's disease called amyloid. And there are imaging techniques where we can visualize this amyloid in the brain. Or we also can measure it in the spinal fluid. So that if it's occurring, then you have a better handle on what's happening. If it's not occurring, then you really need to redouble your efforts to see if there's anything else that might be causing the symptoms.

ROBERTS: My guest is Creighton Phelps. He's director of the Alzheimer's Disease Research Centers Program at the National Institute on Aging. And we are talking about the symptoms of early-onset dementia. And we want to hear from you if you have questions about what these symptoms might entail or if you have experience with the disease yourself. The number is 800-989-8255, and our email is talk@npr.org. Let's hear from Ray in Holyoke, Massachusetts. Ray, welcome to TALK OF THE NATION.

RAY: Thank you.

ROBERTS: Go ahead, Ray. You're on the air.

RAY: Yes. My brother was 58 when he was diagnosed with Alzheimer's disease; has since been re-diagnosed as frontotemporal dementia. And I was wondering if there - if those amyloids are present in frontotemporal dementia and what some of the causes might be. He used to work on buses. He was a mechanic. He was the smartest guy I know. And he used to breathe a lot of the bus fumes and cleaning solvents and he did that for many years. I was wondering if that could be a contributing factor.

PHELPS: Frontotemporal dementia is one of what we call a differential diagnosis for dementia. There - it's in that 30 percent that are not Alzheimer's disease that I mentioned. There's also vascular dementia, Lewy body dementia. There are several other kinds so - and they often get confused. And so it takes a specialist to sort that out sometimes.

We don't really know what environmental influences do affect the development of these diseases. We suspect there may be some. However, there's - nothing has been nailed down yet. So I can't speak to the bus fumes, whether that had an effect or not.

ROBERTS: What is known to have an effect?

PHELPS: Generally, it's the general wellbeing and health of the individual, maintaining proper blood pressure, proper cholesterol levels, good diet. But any of these things get out of whack. So high blood pressure in midlife is considered risk factor for Alzheimer's. Also genetics; you inherit certain risk factor genes that could cause earlier development of the disease and this is - it's like if you do get it at 59 rather than 60, it might be that the person who's getting it earlier has inherited a risk factor - a set of risk factor genes that will cause it to emerge earlier.

ROBERTS: Is there a specific genetic marker that can be tested for if someone chooses that?

PHELPS: There is only in the - what we call the familial type of Alzheimer's, which is very rare, where there - what we say is dominantly inherited, where you actually inherit it from your parents. There you can actually see if the gene is present. The risk factor genes, you can profile people by measuring the - looking at their blood and so forth and the cells in the blood and decide if they have some of the risk factor genes. But they are not predictive necessarily. People can survive very well even if they do inherit some of the risk factor genes. They will almost 100 percent get the disease, however, if they inherit the dominantly inherited type which is the - usually very early onset.

ROBERTS: So suppose someone does receive a diagnosis like this, what is the next step? Is there - are there preventative ways you can slow the progression down?

PHELPS: We don't really know that for sure. There are - the healthy things that people should do in general to avoid heart disease and other kinds of diseases as we age, we hope, will also affect the - to help delay the progression of the disease. There are people who think that more mental exercise and physical exercise will also maybe slow the process down. However, the data for that is inconclusive, suggestive but not proven yet.

ROBERTS: Let's hear from Diane in Mill Valley. Welcome to TALK OF THE NATION, Diane.

DIANE: Hi. Thank you. My question is a little bit reiterating an earlier question you asked. But it's about the difference between - you mentioned that you want to observe changes in your memory and that sort of thing to see if you might be developing early dementia. But, you know, my understanding is that as you age, 60 on up, there might be some changes simply because of, quote, unquote, "aging," not because of disease. And I mean, is there any way to know? I'm 59. You know, the difference between maybe taking a little longer to remember things than you used to, like that movie you saw, et cetera. Is there any - you know, these are things we worry about at my age. So, are there - is there any way to get some guidelines, the difference between aging, a little bit of memory loss and possible disease onset?

PHELPS: Yes, that's - we get that question quite a bit because people are worried. We call these the walking well, the worried well. If this is a pattern that seems to be getting worse, you know, of forgetfulness, there is some evidence that you do slow down a bit with aging. However, if it's - for example, so you lost your keys and you finally find them and then you don't do it again for a while, then that's nothing to worry about. What would be very worrisome is if you forgot what they were for, if you didn't know how to use the keys once you did find them or you're confused about where you keep them, like if you stick them in the freezer or someplace unusual, which Alzheimer's patients often do.

So it's a matter of degree. And there is a slowing down of the memory process with aging, but it's not severe. And usually, when people are reminded, they remember immediately what they thought they had forgotten.

ROBERTS: You're listening to TALK OF THE NATION from NPR News. Now on the line is Tara(ph) in Rochester. Tara, welcome to TALK OF THE NATION.

TARA: Hi. I work for the Rochester Chapter of the Alzheimer's Association. And I just wanted to mention that what we're using now for terminology is younger-onset dementia due to the fact that many of our families get confused by early-stage dementia and early-onset dementia. So we found that that has been helpful for them to use that, the younger onset. And we provide many different programs and services for people with younger-onset dementia to keep them socially engaged and to decrease their isolation, and a lot of different things that are available to them.

ROBERTS: Tara, thanks for you call. You know, we should be clear that early-onset dementia is about the age of the patient, not necessarily about the stage of the disease.

PHELPS: That's right.

ROBERTS: We have an email from Peter in Harrisonburg, Virginia, who says: Do the treatments or medications differ for the different types of dementia?

PHELPS: The treatments we have now are only going to treat symptoms of the disease. It will not change the progression of the disease. So it will return some of the cognitive loss that occurs with the disease. These are usually what we call enzyme inhibitor drugs. There's three of them that are approved for marketing right now, and they are usually prescribed first. Then as you get into a later stage of the disease, middle stages and so forth, there are - is another type which is a receptor blocker kind of drug and that sometimes works at the later stages. But it, once again, does not going to affect the progress of the disease. It's going to just make the symptoms a little bit more bearable.

ROBERTS: And is there a progress of the disease that is predictable or is it different in different patients?

PHELPS: It's highly variable. There's - we have these average figures that, from the point of diagnosis until seven to 10 years later, they're gradually declining. But we know people survive even as long as 20 years, so it's going to be variable.

ROBERTS: We have a call on the line from Susan in Wichita. Susan, welcome to TALK OF THE NATION.

SUSAN: Oh, thank you.

ROBERTS: Go ahead, Susan. You're on the air.

SUSAN: Yeah. We - my story is my mother was - started the symptoms of early-onset dementia when she was 47 and ended up dying from complications when she was 57. I'm 44. My oldest sibling is 50. What should we be doing? Is there anything we can do?

PHELPS: That's a hard question to answer. There - do - I can't know your particular family situation, but that's very early for disease to develop, so I think...

SUSAN: Yeah.

PHELPS: ...you would want to check out with your physician, her - maybe your mother's physician to find out if you are at risk because we do know that it tends to run in family sometimes. But the main thing we would advise since we don't know anything that can prevent it for sure is just to lead a healthy lifestyle; exercise, diet and maintain blood pressure, cholesterol levels. All these things that are good for your heart are probably good for your brain as well.

ROBERTS: And given that it's not preventable, if you are trying to find out if you carry that genetic marker for the inherited version, I assume there's a fair amount of genetic counseling you should do before you take that step.

PHELPS: Exactly. Some people just don't want to know, others do. So in those families that have the genetic mutation, you'll find maybe - I know of one family where there were six siblings and five of them had the mutation and one of them didn't and that causes all kinds of interesting family dynamics. The guilt feelings of the one who didn't inherit it, taking care of the five who did inherit it. So it's - some people don't want to know, others do.

ROBERTS: Creighton Phelps is director of the Alzheimer's Disease Research Centers Program at the National Institute on Aging. He joined us today from a studio at the National Institutes of Health in Bethesda, Maryland. Thank you so much for your time today.

PHELPS: It's my pleasure.

ROBERTS: Tomorrow, the dedication of the Martin Luther King Memorial on the National Mall. Join us for that. This is TALK OF THE NATION from NPR News. I'm Rebecca Roberts in Washington.

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