Quality AND Quantity of Life
Quality AND Quantity of Life
“The important thing to you is not how many years in your life, but how much life in your years!” – Edward Stieglitz
Simply put, it’s all about quality over quantity. We have all seen similar quotes in our lifetime. This blog will look at this time-tested adage a bit differently. Throughout my first book, Running All Over the World, Our Race Against Early Onset Alzheimer’s, and in my second book, One Footstep at a Time: Our Race Against Early-Onset Alzheimer’s Continues I talked extensively about how I thought there is not much I can do about quantity so Cat and I concentrated on the quality of life after her diagnosis of Early-Onset Alzheimer’s back in 2014. As the title of my first book suggests we literally ran all over the world. We visited 82 countries and ran road races of various distances on all 7 continents. Throw in many weeks of cruises in the Caribbean and Europe, and one can easily say we saw and did it all.
After 8 years we transitioned to the independent section in a Senior Living Facility however we continue to Travel and do road races at least once a month. With that said I can easily say we continually check the quality of life box repeatedly. The following article talks about the AEOP4 gene and its influence on folks when it comes to being inflicted by Alzheimer’s sometime in your life.
After Cat’s diagnosis, we both opted for the health option with 23 and me. I came back negative for the gene but unfortunately, Cat has two genes, one from each parent. Her father died of Vascular Dementia in his 70s after a 2-year battle. Her mom is in her late 80’s and showing the typical signs of Dementia at that age.
Genes known to increase the risk of Alzheimer’s may actually be an inherited form of the disorder, researchers say
By Brenda Goodman, May 6, 2024
A gene long understood to increase the risk of Alzheimer’s should be considered an inherited form of the disease, researchers say. Alzheimer’s disease may be inherited more often than previously known, according to a new study that paints a clearer picture of a gene long known to be linked to the common form of dementia.
The authors of the study, in the journal Nature Medicine, say that this might even be considered a distinct, inherited form of the disease and that different approaches to testing and treatment may be needed.
Among people diagnosed with Alzheimer’s, researchers recognize familial forms of the disease and sporadic cases. Most cases are thought to be sporadic, which develop later in life. Familial forms, caused by mutations in any of three genes, tend to strike earlier and are known to be rare, accounting for about 2% of all Alzheimer’s diagnoses, or about 1 in 50 cases.
Under the new paradigm, 1 in 6 cases of Alzheimer’s would be considered to be inherited, or familial. This shifting appreciation of inherited risk, researchers say, is due to a better understanding of the role of a fourth gene that carries the blueprints to make a lipid-carrying protein called apolipoprotein E, known as APOE. APOE ferries cholesterol throughout the body and brain and is thought to play a role in depositing or sweeping away sticky beta-amyloid plaques, which are one hallmark of Alzheimer’s.
There are three types of the APOE gene a person can carry. One called APOE2 is thought to be protective against the development of Alzheimer’s disease. APOE3 is thought to confer a neutral risk of the disease. APOE4, on the other hand, is bad news. It has long been recognized that people with at least one copy of the APOE4 gene have an elevated risk of developing Alzheimer’s disease, while people with two copies had a higher risk still.
Now, researchers say APOE4 shouldn’t just be recognized as a risk factor, it should be viewed as an inherited form of the disease, virtually assuring that a person who has two copies will get the biological changes associated with Alzheimer’s disease in their brains. In the new study, researchers from Spain and the United States compared people in clinical studies who had two copies of the APOE4 gene with people who had other forms of the APOE gene. They also compared people with two copies of APOE4 to people with other inherited forms of the disease: early-onset autosomal dominant Alzheimer’s disease (ADAD) and Down syndrome-associated Alzheimer’s disease (DSAD). The study included data from nearly 3,300 brains that are stored at the National Alzheimer’s Coordinating Center and data from another 10,000 people who were participants in five clinical trials.
Not only were people with two copies of the APOE4 gene much more likely to develop the biological changes that lead to Alzheimer’s disease, similar to people with the other genetic forms of the disease, they were almost assured the diagnosis: Nearly 95% of the people in the studies with two copies of the APOE4 gene had the biology of Alzheimer’s disease by the time they were 82 years old.
The study authors say that while APOE4 reliably causes the biological changes associated with the disease — the creation of beta-amyloid plaques in the brain — having one or two copies of this gene doesn’t always lead to cognitive decline. Rarely, people can have APOE4 and have a lot of beta-amyloid in their brain but not have symptoms, perhaps because of other genetic or environmental factors that protect their brains at the same time. In the large dataset of nearly 3,300 brains kept by the National Alzheimer’s Coordinating Center, for example, 273 individuals had two copies of the APOE4 gene, and 240, or 88%, had dementia.
When people with two copies of APOE4 do have symptoms, they tend to get them earlier than others. On average, they developed Alzheimer’s about 10 years earlier — around age 65 — than people with other forms of the APOE gene. Researchers also found that the buildup of beta-amyloid and tau in their brains followed almost the same trajectory as has been noted in people with other inherited forms of the disease. Their disease was more severe earlier in life.
In all the inherited forms of the disease, “there are striking, similarities in the way the disease progresses and the symptoms it gets,” said lead study author Dr. Juan Fortea, a neurologist and director of the Memory Unit of the Neurology Department at the Hospital de la Santa Creu i Sant Pau in Barcelona, in a news briefing. Fortea and his co-authors argue that for these reasons, having two copies of the APOE4 gene should be considered a genetic form of the disease, not merely a risk for it. Dr. Charles Bernick, associate medical director of the Cleveland Clinic Lou Ruvo Center for Brain Health, said the study showed how powerful it is to have two copies of the APOE4 gene. “It really drives a disease process,” said Bernick, who was not involved in the study.
The strength of APOE4’s role in the development of Alzheimer’s wasn’t recognized earlier, the researchers think, because APOE4 also plays an important role in heart health, and they think many people with two copies of the gene probably died from cardiovascular causes before they developed Alzheimer’s. Previous studies had estimated that 30% to 35% of people with two copies of the APOE4 gene would develop mild cognitive impairment or dementia.
Researchers say they also found a gene-dose effect. While having two copies of APOE4 assured that a person would see beta-amyloid and tau build up in their brains, having just one copy of the gene also increased a person’s risk – but not as much as two copies of that gene. That would mean the APOE4 gene is semi-dominant, Fortea said. Other diseases in which genes show semi-dominance include sickle cell anemia and hypercholesterolemia. In sickle cell, for example, two copies of the gene cause sickle cell disease, but one copy causes sickle cell trait. People with sickle cell trait don’t usually have symptoms, but they may be more likely to have heat Stroke or muscle breakdown during strenuous Exercise, and they can experience pain crises under certain conditions.
Classifying APOE4 as an inherited form of the disease has some big implications. First, it would mean that a far greater proportion of Alzheimer’s cases are caused by genes than has been previously understood. Before APOE4, the only gene changes recognized to cause Alzheimer’s were associated with early-onset forms of the disease and with Down’s syndrome. They accounted for about 2% of Alzheimer’s cases, about 1 in 50.
People with two copies of the APOE4 gene make up about 15% of people who are diagnosed with Alzheimer’s, or 1 in 7 cases of the disease.
About 2% of the general population carries two copies of the APOE4 gene, which would make it one of the most prevalent inherited diseases.
The important takeaway from the study, said Dr. Constantine Lyketsos, director of the memory and Alzheimer’s treatment center at Johns Hopkins, is that Alzheimer’s disease shouldn’t be treated as a monolith. Rather, it shows that there are different forms of the disease that need personalized treatment. “The point is, we need to start doing precision medicine and breaking it down. Start with genetics,” said Lyketsos, who was not involved in the study.
It is also likely to change how people who carry the APOE4 gene are diagnosed and treated. There are tests available to determine a person’s APOE4 status, but they’re not recommended as a routine part of diagnosis. That may need to change, the study authors said. “The consensus and the guidelines now do not recommend testing for APOE4 and that was because the consensus was that it did not help for the diagnosis,” Fortea said. APOE testing is recommended for patients who are being evaluated to take new amyloid-clearing medications, such as Lecanemab.
Because Alzheimer’s patients with two copies of the APOE4 gene are at higher risk of serious side effects like brain swelling from these amyloid-clearing medications, some treatment centers have decided not to offer them the drugs, said study author Dr. Reisa Sperling, director of the Center for Alzheimer’s Research and Treatment at Brigham and Women’s Hospital. “I find this very problematic, given these data,” she said, noting that it would be important to do research to see whether it might be possible to find safer dosing or safer treatments for this patient group.
“For me, this just means we need to treat them earlier,” Sperling said, “and this research really suggests that we should be treating them quite early, at a younger age, and at an early stage of pathology because we know they are very, very likely to progress to impairment quickly.”
Dr. Sterling Johnson, a study author who leads the Wisconsin Registry for Alzheimer’s Prevention at the University of Wisconsin, said it would be very important for clinical trials to start to take participants’ APOE4 status into account. “We may need to start treating these as a separate group in our research papers so that we can really understand the relationship between amyloid and tau and symptoms” in people with two copies of the APOE4 gene, in a way that we kind of have not been able to before, Johnson said in the news briefing.
As you can see by the article it is no longer a matter of if a person with both genes will get Alzheimer’s sometime in their life but more like when. Earlier articles talked about how there was a 50 percent increase in the chance of getting the disease if they had both genes. This made me rethink the issue of the quantity of life for Cat.
The quality part I could figure out. I wrote two books about all that we have done over the last 10 years. I also have a lot more planned out for the future. I have started to drill down on the quantity part and figured out something I had never read about. I have talked extensively about the benefits of exercise but there might be another overlooked connection.
The most common cause of death for folks with Dementia is infection either on the body from bed sores, or otherwise with aspiration pneumonia, or septicemia from Urinary Track Infections, UTIs. Some have slips and falls, seizures, heart attacks, or strokes. Also, folks die from lack of food and or fluids.
Going back to the big three the more you keep them moving the longer they will stay out of bed. Thus reducing the chances of those three life-threatening diseases. With that in mind and looking back over the last ten years I have tried my best to keep her out of bed through various forms of exercise.
Since moving here over the last 2 years I regularly pay caregivers to help me keep her moving as best she can. Not only does that help keep her out of bed but also the level of exercise she gets daily makes her hungry thus exercising the communication between her brain and the tissue called the epiglottis that sits over the top of the trachea. This flap blocks food and drink from going down into the trachea when you swallow. Aspiration can happen when you have trouble swallowing normally. Trouble swallowing is called dysphagia. If food makes its way to the lungs from dysphagia and can lead to aspiration pneumonia.
Keeping one well-hydrated also helps on the UTI front. No problem for Cat since she is plenty thirsty from the level of exercise/movement she gets daily. I also give her a supplement called Promote by Uqora which supports vaginal health. Drinking fluids regularly also keeps the lines of communication open between her brain and the epiglottis. Bed sores and related infections from them are not a problem for us, so far, since after 7-9 hours of Sleep Cat is ready to get up and get moving.
Moving past the big three risk factors I mentioned for those with Alzheimer’s I will move on to other risks many need to be cautious of. It is quite obvious that constant movement on her part also reduces the risk of any heart-related problems. She routinely walks over 5 miles each day.
That leaves us with seizures and falls. Three years ago Cat had her first seizure. Six months later she had seizures number 2,3 and 4 within a week and we have been dealing with them ever since about every month or two. In my second book, I talk extensively about what I have done to reduce the frequency and severity of seizures. I will not go into details here but suffice to say as of this writing she has now gone 7 months since her last seizure. For her, that ties very well with falls since for several weeks after a seizure her coordination is compromised so the chances of a fall go way up.
Last but not least is if your loved one could simply refuse to eat or not eat enough to compensate for the weight loss caused by the disease. I witnessed this with my mom during the last two weeks of her battle with pancreatic Cancer. Her health care directive specified no feeding tubes and I honored that request as she refused to eat. The research I have done on this subject shows that it is painless and some with Alzheimer’s choose this route once they start choking on food or drink. I might have to deal with that down the road since Cat and I have no feeding tubes on our healthcare directives.
In life, it is impossible to mitigate all risks but I now feel pretty comfortable that I have done my very best. I am often told that I can’t cover her in bubble wrap so accidents do happen. I try my best not to take it personally and instead relish the fact that she is still by my side. Having a great team of 4 skilled caregivers, two of whom are also paid travel companions along with Hospice is huge. I do not recommend anyone to try to do this alone and encourage everyone to accept help when offered and more importantly to ask for help when needed.
This all reminds me of a podcast I did a while back where the host pointed out that we use movement as medicine. I now feel through my due diligence I have given Cat both quality and quantity of life through the medicine of movement.
My second book mentioned above is now available on my website, RunningwithCat.com. There you can order an autographed copy for you or someone you know who might find the information helpful. It is not only the story of our second 5-year journey with Early Onset Alzheimer’s but also provides research-based information on how to live the best life possible for you and your loved one even if you do not have this dreaded disease.
A portion of the proceeds from the sale of this book will be donated to organizations providing support to Alzheimer’s patients and their caregivers.
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