Throughout her life, Lucy Pontrelli's mother, Anna, had always been the picture of health. "She was invincible, constantly caring for the entire family," said Ms. Pontrelli. But five years ago Anna Pontrelli was diagnosed with frontotemporal dementia, a degenerative condition of the frontal and anterior temporal lobes, areas of the brain that control reasoning, personality, social graces, language, and some aspects of memory.
"She used to be very proper and refined, but she stopped paying attention to her appearance and became severely agitated when things were out of place," Ms. Pontrelli said. "She began overstuffing her mouth at meals, almost to the point of choking, and would often eat things off the floor. Over a short period of time, this disease has stolen most of her basic functions. She is wheelchair bound, has a feeding tube, and cannot speak, yet some of her memory appears to still be there."
Ms. Pontrelli was speaking at the Frontotemporal Dementia Caregiver Conference, held earlier this winter at the New York Academy of Medicine. The conference is part of a new Frontotemporal Dementia Program at Columbia University Medical Center that is bringing together clinicians and researchers to improve the diagnosis and treatment of this still misunderstood and under-recognized disease, as well as help family members deal with the often unique stresses involved in caring for someone with FTD.
Frontotemporal dementia (FTD) can present in different fashions. But it is often marked by changes in personality, behavior, and executive functions such as multi-tasking and reasoning. FTD most commonly begins in a patient's 50s, but symptoms can begin as early as age 30, or as late as the 80s. Behavioral changes may include loss of impulse control or inhibition, hypersexual behavior, aggression, or apathy. Other features can include hoarding (e.g., buying 300 statues from a catalog), social withdrawal, making the same noise over and over again, and ritualistic compulsive behaviors.
"Jim** changed from being modest to being inappropriately boastful. He interrupts serious conversations with jokes. He threatens people on the bus who annoy him by exclaiming, 'I haven't killed anyone yet today,'" said Mary** of her husband. Mary was speaking at a recent meeting of the Frontotemporal Dementia Caregivers' Support Group, created by Jill Goldman, MS, MPhil, CGC, a genetic counselor in Columbia's Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center.
FTD can also present as a language disorder known as primary progressive aphasia (PPA), which causes loss of expressive language that gradually progresses to being mute, or to semantic dementia, in which people lose the meaning of language. People suffering from PPA or semantic dementia may not have behavioral symptoms and may be very frustrated due to their more preserved insight.
"He's aware of what's happening to him and he's crushed, totally devastated; but he's trying to keep his dignity intact," said Anne Zweiman, whose husband David, diagnosed two years ago with PPA, can no longer speak, read, or write. "And I'm very tired; my gas tank is on empty. I'm trying to keep a million balls in the air – working full-time, running our business, and trying to coordinate visits from his family." David is treated by Lawrence S. Honig, MD, associate professor of clinical neurology and a member of Columbia's FTD Program.
Due to the personality changes it causes, FTD is sometimes mistakenly diagnosed as a psychological or emotional problem (such as depression, bipolar disorder, late-onset schizophrenia or anxiety). Or downplayed as a "mid-life crisis." Because it affects executive function – the ability to reason or process information – FTD patients are easy targets for scam artists (responding to phishing emails for money, etc.). In the elderly, symptoms may be mistaken for withdrawal, eccentricity, or most commonly, Alzheimer's disease. FTD can progress to immobility and loss of speech and expression, causing isolation for patients and their family members.
"It took a long time for me to accept my husband's diagnosis and now I'm dealing with anger and overwhelming sadness," said Diane** of her husband Charlie**, who was diagnosed in 2007 with FTD. "I'm now doing everything by myself or with friends – it can be very lonely. At a recent dinner party, I was the only unaccompanied person and all the couples were dancing. And weekends are horrible – I ask him questions and he just giggles and says 'I don't know.' There's just nothing there. I'm no longer comfortable taking him anywhere and I'm nervous leaving him alone in a room. I even have to brush his teeth now. I'm taking on everything he used to do , including learning his business, which entails using a language I'd never worked in."
"She's still alive, but clearly isn't there," said Jason** of his wife, Miranda**, who was diagnosed with FTD in 2009 and is currently treated by Karen Marder, MD, the Sally Kerlin Professor of Neurology (in the Sergievsky Center, the Taub Institute, and in psychiatry) and Lewis P. Rowland, MD, professor of neurology. "She can't answer questions now – mostly she repeats things. I feel like I'm in a state of frozen grief."
FTD is the second-most common pre-senile dementia with an onset before age 65 (Alzheimer's disease is the most common). It is diagnosed following a thorough neurological examination by a dementia specialist. However, exact figures on the prevalence and incidence of FTD are still lacking, since definitive diagnosis is only possible upon brain autopsy.
FTD is more of a mystery than Alzheimer's disease. Like Alzheimer's disease, some cases may involve genetic factors, and others not. Unlike Alzheimer's disease, FTD is not the result of a build-up of amyloid plaques in the memory part of the brain, and the disease tends to be memory-sparing for longer than Alzheimer's. Just as there is more than one clinical presentation of FTD, there also are at least two different molecular pathologies in FTD. One involves tau protein, and the other a protein called TDP-43. These two different forms of the disease are being studied intensely at Columbia.
"Despite her behavior changes, my mother's memory appeared to remain intact for a long time. She would recall everyone's phone numbers, all of her medications, my dad's medications, and could always find the lost keys," Ms. Pontrelli said.
As the above testimonials illustrate, FTD can be extremely devastating for families, similar to the devastation caused by Alzheimer's and other forms of dementia. The economic and emotional impacts of FTD are often more pronounced because it strikes otherwise healthy individuals in their 40s, 50s, and early 60s at the peak of their careers and parenting responsibilities.
"The person that he was disappeared a long time ago – he became very apathetic and he used to be so dynamic," said Carol* of her husband, who was diagnosed with FTD in 2004. "I've had to take over his business, organize 24/7 home care, and I still have my own work. It's very wearing."
Since FTD presents in middle-aged people, it causes many different issues than with Alzheimer's or some other types of dementia. The patient's children may still live at home, many nursing homes and adult daycare centers do not accept patients who are still healthy physically, and families are reluctant to place their relative into a nursing home with much older residents.
"Now, in the end stage of his disease, he's totally mute and bed-ridden. He's cared for at home, and it's a huge emotional and financial burden," said Carol*. "I'm essentially a widow, but not quite."
New Frontotemporal Dementia Program Established at Columbia University Medical Center
FTD Clinical Evaluations
Those who suspect they or their family member may have frontotemporal dementia (FTD) may schedule an appointment with a Columbia dementia specialist by contacting the Taub Institute for Research on Alzheimer's Disease and the Aging Brain at Columbia University Medical Center by calling 212-305-6393 or sending an email to firstname.lastname@example.org. Additional information can be found on the Taub Institute’s website: http://www.taubinstitute.org.
The new FTD Program at Columbia University Medical Center brings together clinicians and researchers in order to improve the diagnosis, understanding, and treatment of this devastating illness. According to Karen E. Duff, PhD, professor of pathology (in psychiatry and in the Taub Institute), "FTD is actually a spectrum of diseases that overlap with each other and with other neurodegenerative diseases, allowing us to apply some of the knowledge obtained from decades of research into these other diseases to develop diagnostic and therapeutic approaches that would be suitable for FTD." (see diagram)
Patients with possible FTD are seen by Columbia neurologists at the Lucy G. Moses Center for Memory and Behavioral Disorders. Patients are carefully screened for signs of FTD by highly experienced clinicians who use a range of techniques that can differentiate FTD from conditions with similar symptoms, such as psychiatric conditions and Alzheimer's disease. Extensive and relevant patient history, including family history, is recorded and tracked to establish whether any of the patients visiting the clinic may have familial forms of the disease. If so, they are referred for genetic counseling. Initial research has demonstrated that 10 percent of familial FTD is autosomal dominant, meaning that the abnormal gene only needs to be passed down from one parent in order for the disease to be inherited. However, in other families without strict autosomal dominant inheritance, there may be several cases of FTD or related diseases, indicating still unknown genetic risk factors. Richard Mayeux, MD, MSc, the Gertrude H. Sergievsky Professor of Neurology, Psychiatry and Epidemiology, and co-director of the Taub Institute, together with Dr. Lawrence Honig, has initiated research at Columbia into the genetics of FTD.
The FTD Program is also conducting research in cell models, and genetically-engineered mouse models of the disease created using known gene defects, in order to examine how the disease is initiated and how it kills brain cells. There is currently no cure for FTD, and in most cases, progression cannot be slowed. The research team is focused on developing new treatment strategies, such as reducing abnormal forms of the protein tau, or preventing the damage done to the brain when toxic proteins accumulate. One of these therapeutic strategies, pioneered by Dr. Duff, is now in clinical trials in the U.S. and in the U.K. (visit www.clinicaltrials.gov for more information).
Earlier this winter, 220 attendees gathered at an all-day Frontotemporal Dementia Caregiver Conference. Held at the New York Academy of Medicine, the conference was sponsored by the New York City Area Consortium on FTD, which was created by Dr. Richard Mayeux, co-director of the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, in order to bring together researchers and other healthcare professionals in Alzheimer's and FTD to help increase the number of FTD patients involved in research studies, to share biological samples (such as brain tissue), develop new treatments, and to find other ways to address some of the challenges of studying the disease. There are very few treatments available for FTD – Alzheimer's therapies have been used with varying degrees of success, and SSRIs are often given to combat psychiatric symptoms.
Dr. Mayeux brought together medical institutions in the New York area that have an expertise in neurological diseases. Additional members of the NYC FTD Consortium include Weill Cornell Medical College, New York University, Albert Einstein College of Medicine, Mount Sinai Medical Center, Downstate Medical Center, North Shore Long Island Jewish Health System, and the Burke Rehabilitation Center. The conference was co-sponsored by the Association for FTD, the Alzheimer's Association, and the Alzheimer's Foundation of America. In addition, the National Institute on Aging and the National Institute for Neurological Disorders and Stroke are reviewing the possibility of creating FTD centers of excellence as part of their successful Alzheimer's Disease Centers.
The event was open to the public and geared toward persons caring for those with FTD, including family caregivers and interested professionals – social workers, home health aides, and nursing home and day care staff. Topics included disease spectrum, diagnosis, genetics, medical management, and a full range of caregiver concerns, including placement and end-of-life issues, as well as guidance for navigating the complex legal-financial system.
Jill Goldman, a Taub Institute genetics counselor, was instrumental in putting on the FTD Caregiver Conference, in which speakers from each of the NYC FTD Consortium institutions spoke about different aspects of FTD. "The conference was an opportunity for caregivers to meet one another and realize that they're not all alone," says Ms. Goldman. "Caregivers are forever looking for ways to keep their loved ones busy and engaged in a safe way, and it's extremely difficult, time-consuming, and exhausting. They need to deal with family members who don't quite understand the disease; they're totally overwhelmed all the time. The stress level totally impacts the caregiver."
As Mary said of her husband, "I'm very angry. All day long I don't quite know where he is – I've lost him several times. I know it's not his fault that he has FTD, but my whole life has turned upside down."
Frontotemporal Dementia Caregivers' Support Group
FTD Caregivers' Support Group
Held on the first and third Wednesday of every month
The Alzheimer’s Association, 4th Floor
360 Lexington Ave. (between 40th and 41st Sts.)
New York, NY.
If you are interested in participating, please contact Jill Goldman at (212) 305-7382 or email@example.com.
As a clinician, educator and researcher, Ms. Goldman has been driving efforts to create awareness and empathy of FTD and the struggles that family members and caregivers face. She leads a FTD caregivers' support group, which meets twice a month at the New York City chapter of The Alzheimer's Association.
"The issue of a changing relationship is very challenging, whether that person is a spouse or a parent," says Ms. Goldman. "Because with FTD they're still present, but are not at all the same person."
Mary, mentioned above, is grateful to the FTD support group for encouraging her to share information about her husband's illness with others in their lives, "Telling people about Jim's illness has brought tremendous understanding from those around us. For example, we recently had an incident where Jim got upset at our doorman about a handyman not showing up for a scheduled appointment, even though the doorman had nothing to do with it. Because the doorman knew about his illness, he handled the situation with grace and kindness."
By Lucy Pontrelli
My story began six years ago when my then 63-year-old mother seemed to suddenly develop a speech problem. She was losing the ability to communicate, a quality which had perhaps been her greatest asset. During this time she would often state, "The words don't come out." The diagnosis appeared to be crystal clear to everyone she encountered. Even perfect strangers in local stores would stare and whisper, "Oh, she must have had a stroke." I remember thinking, "What else could it be?" After all, she was the picture of health. In fact, she was invincible, constantly doing everything for everyone and never taking a break. My family and I were convinced that this would pass and ultimately she would fine. At the time she had no obvious signs of memory loss.
Much to our surprise, two years, five neurologists, one psychiatrist and countless medical tests later, we discovered that she had Frontotemporal dementia, a rare disease unfamiliar to both the general public as well as the medical community. Now she’s seen by Columbia’s Karen Marder, MD, the Sally Kerlin Professor of Neurology (in the Sergievsky Center, the Taub Institute, and in psychiatry), who was instrumental in making the diagnosis and helped my family understand the nuances of this peculiar disease at a time when it was overwhelming for us. Dr. Marder patiently explained this complex illness in terms everyone could comprehend.
Over a short period of time, this ruthless degenerative disease has stolen my mother’s basic functions, including speech, mobility, and most recently, her ability to eat and drink. My family and I cherish every moment we have with her – seeing her smile and hearing her laughter.
Now the tables have turned and we have the privilege of caring for someone who has dedicated her life to taking caring of others. We are determined to find ways to improve her quality of life in addition to raising awareness and funding for this debilitating early-onset dementia that strikes during the prime of one’s life.
* Last name withheld for privacy
** Names changed for privacy