Multi-generational family. Photo courtesy: Pixabay. Research shows family history plays a role in Alzheimer’s disease.
It’s an emotionally devastating scene in “Still Alice,” the 2015 film adaptation of Lisa Genova’s bestselling novel about a woman’s battle with Alzheimer’s Disease. Julianne Moore, who stars in the titular role, begins: “John, sweetheart, wake up…Um, I’ve got something wrong with me. I’ve been seeing a neurologist…”
Alice Howland had just celebrated her fiftieth birthday. It was easy, at first, for her to brush off minor memory lapses as a normal byproduct of career-related stress or the result of aging. But then they got worse, and her physician administered a PET scan to look for signs of early-onset Alzheimer’s. “They’ve been doing all these tests, and I’m really scared,” she said. “I know what I’m feeling. It feels like my brain is dying and everything I’ve worked for in my entire life is going. It’s all going.”
She’s not alone. In 2008, the Alzheimer’s Association published a report that’s comprised of testimony from patients who are living with the disease. Their words express feelings of isolation, of shame and often dread: “I am scared. I don’t know how long I will be able to work, care for myself, stay at home, and the like. My husband and sons tell me not to worry, they will take care of me–but what a burden will I be?”
Alzheimer’s is invariably fatal; its diagnosis is always followed by a gradual neurodegenerative decline in which the patient will experience problems with language, disorientation, mood swings, behavioral issues (often withdrawal from family and society), and eventually the total loss of control over bodily functions. Provided the nature of these symptoms, family members often must stop working to become full-time caregivers, adding to existing financial and emotional strain. The estimated cost incurred by the American taxpayer for treating patients on Medicare and Medicaid is exorbitant: estimates for 2017 are as high as $259 billion, a figure that dwarfs the financial burden of cancer and heart disease.
Very little is yet understood about what causes Alzheimer’s disease. There is no drug or treatment that can stop, reverse, or slow its progression, and there is no supplement, medication, or method that can decrease one’s risk. The vulnerability of federal funding for the NIH and other research institutions working toward a cure has prompted calls to introduce legislation that would prioritize this research in the federal budget. Alzheimer’s is both the most underfunded disease among the top ten leading causes of death in the United States and the only one for which there is no effective treatment.
THE SEARCH FOR A CURE
Promising new developments in research may offer hope for patients living with Alzheimer’s, for their caregivers, and for people with the genetic markers or family history that may leave them more susceptible. But while there is a groundswell of public support for funding this lifesaving work, medical scientists face an additional roadblock: a small number of vocal animal rights organizations that want to stop them in their tracks. The companies, groups, and academic institutions that conduct and support Alzheimer’s research—those which also number among the most respected in the biomedical field—recognize a continued need for humane and responsible research with animal models, which will provide the keys to understanding Alzheimer’s disease and the tools to develop a cure. They need support from the public and from elected representatives; support by way of federal funding that does not compromise or inhibit the necessary research with animals that remains our best hope for treating, curing, and preventing deadly disease.
Who is most susceptible to Alzheimer’s disease? Clues about genetic predisposition to the condition, and information about associated risk factors, may present new inroads toward a treatment or cure. At the very least, these new understandings will clear the path for new avenues of research to find ways to mitigate or reduce risk—while arming patients with the means to accurately assess their susceptibility so they can plan accordingly. In the last ten years, a series of studies with mice strengthened connections that researchers found in humans between certain mutations in the amyloid precursor protein (APP) and early-onset familial Alzheimer’s disease, the same form of Alzheimer’s that Alice Howland suffered from—or, to honor a distinction that she makes in another pivotal scene, struggles with. It’s rare, only accounting for 3.5% of cases, but this discovery is important for two reasons: It’s now possible for people with a family history of Alzheimer’s to take an at-home test that will determine whether they have one or both copies of the gene that will increase their risk. And the early-onset gene mutations now guide most of the research for new therapies and treatments for all forms of Alzheimer’s disease, modeled on studies with animals, including the potential to harness a naturally occurring protective gene mutation into an anti-amyloid drug that “could alter the disease’s course or even prevent it.”
Building on the foundational discoveries in mice, researchers worked with non-human primates to determine how the proteins associated with Alzheimer’s change with age, and how these changes affect behavior and cognition. New information was uncovered in these studies that facilitated clearer, more accurate connections between brain function, brain dysfunction (the breakdown of motor skills and cognitive ability), and the pathogenesis of neurodegenerative disease. In turn, medical scientists and healthcare providers are better able to understand the symptoms experienced by patients living with diseases like Alzheimer’s, dementia, and Parkinson’s, and even conditions such as bipolar disorder and autism.
The plausibility of a cure, treatment, or preventative drug is bittersweet for many who have lost a loved one to Alzheimer’s, and also for those who are living with the disease in its advanced stages. Loss is a common theme in the sentiments expressed by patients; loss of autonomy, of objects, of memories, of relationships, of faith.
As her disease progresses toward it’s inevitable conclusion, Alice Howland’s daughter reads to her from Tony Kushner’s acclaimed play, Angels in America: “Nothing’s lost forever. In this world, there is a kind of painful progress. Longing for what we’ve left behind and dreaming ahead.”
Millions of patients in the United States and around the world suffer from, struggle with, and are killed by Alzheimer’s disease and other neuropathological illness. For a very long time, little was understood about the brain, and even less was known about the conditions that interfere with its ability to function properly. The remarkable advancements in this area of medicine, like those witnessed in the last decade, can only continue unabated if leading scientists have the necessary means and support to conduct the best possible research. At present, that means research with animals.