What is the hope in "Planning for Hope"?
Major breakthroughs are happening in research of neurodegenerative diseases. Science and the medical communities have made tremendous advances in understanding, diagnosing, treating and preventing a fairly rare and cognitive disease called FTD, Frontotemporal Disease. Baby boomers are worrying about their parents Alzheimer's Disease, while this newly studied FTD, under the age of 65 is just as common as Young Onset Alzheimer's.
Mayo Clinic, a leader in the neurodegenerative diseases, is helping make tremendous strides toward understanding, diagnosing, treating and preventing this family of diseases. At great expense, Mayo came up with the genetically altered mouse, in this case, to develop abnormal proteins causing some of the main neurodegenerative diseases. It is this mouse that is enabling research and treatments to progress faster than would otherwise have been possible. Mayo licenses the model to major pharmaceutical companies and offers it free to universities and research centers.
Lowering Certain Protein May Help
Researchers at the University of Pennsylvania are finding various proteins that are causing the plaques and tangles in Alzheimer's; they are also focusing on Tau in destruction of brain cells. Tau deposits are one of the characteristic abnormalities in disorders such as Frontotemporal Disease (FTD), Pick's, Progressive Supranuclear Palsy, Corticobasal Degeneration, Primary Progressive Aphasia, Semantic Dementia, FTD with Motor Neuron Disease, FTD with Parkinsonian Symptoms, Lewy Body Disease, and Alzheimer's. Researchers are presently studying the effects of FTD-17 tau mutations in the transgenic mice to determine how the mutations cause neurodegenerations.
New Sophisticated Neuroimaging Techniques For Earlier Diagnosis
One of the exciting ongoing researches being done is in the area of neuro-imaging. Highly sophisticated imaging including Pet Scans, SPECT Scans, and MRI's are helping scientists measure the earliest changes in brain function or structure to identify people in the very early stages of the disease-well before they develop clinically apparent signs and symptoms. Other biomarkers are being developed with the imaging information from clinical, memory, and other cognitive functional tests, while other information is being derived from blood, cerebrospinal fluid, and urine samples. Pittsburgh Compound B (PiB) has been utilized allowing researchers to "see" beta-amyloid in the living brain, an indicator of Alzheimer's.
The Center for Neurodegenerative Disease Research at Univ. of Penn. is transforming exciting basic research discoveries into new drug discovery opportunities. They are able to analyze compound pharmacokinetics, brain exposure, and safety through their robot system , that accesses a variety of equipment, including liquid dispensers, plate washer, incubators, and sophisticated equipment for endpoint analysis. There is a library of 52,000 compounds to help in drug discovery programs. In general they can screen 5-10,000 compounds daily. Recently they completed a screen using the robot and 300,000 compound library of the NIH Chemical Genomics Center in which they had identified an interesting class of tau fibril inhibitors. These molecules serve as lead molecules that, with further characterization, might prove to be suitable for testing in transgenic animal models of FTLD and AD. These kinds of research collaborations utilizing animal models of disease as proof-of-principal data might ultimately help serve as drug candidates for human clinical studies.
Genetic counselors construct pedigrees, or graphic illustrations of family structures/trees and health history for analysis of neurodegenerative diseases. Typically geneticists look at three generations of family members to pinpoint any similarities of medical issues or diseases that might pass through from one generation to the next. With this valuable information, they can speculate what the probability is that a genetic mutation/disease will pass on to the next generation. While this information gathering can be quite stressful, it can help persons with prospective neurodegenerative diseases, such as FTD or the other variants of FTD, or Young Onset Alzheimer's, etc. to plan for themselves and future generations. These plans can include current and future treatments, family planning, and counseling. FTD can be sporadic, familial, or hereditary. It can develop in one person at a time rather than being inherited. It also can be found in up to 50% of the family, showing a higher level of risk between generations. Hereditarily speaking, approximately 10% of FTD'ers show a dominant pattern of inheriting the disease. Genetic counseling is extremely important for the family displaying FTD or neurodegenerative diseases. It can open the doors of communication between family members, and provide advocacy of health care for families.
Caregiving And Family Help
"Talk, Talk, Talk"- So very many people keep what changes they are noticing about themselves discreet; they are not telling anyone about these changes. Since this disease comes so early, the patient can help make choices about how care will be delivered.
The patient can help build strong relationships between himself/herself and loved ones.
Strengthening and educating family members to reduce the daily stressors that come from unhealthful responses to difficult behavior should be a high priority to encouraging a more stable and safe lifestyle for all.
The financial industry will be encouraged to lower the age range, closer to 40, when their Long Term Care Insurance should be purchased rather than retirement age. Get people on SSDI (Social Security Disability Insurance) as soon as possible, encourage employers to provide disability insurance for their employees, and discuss the documents needed, such as the Power of Attorney, Medical Power, and will/trusts.
Dementia: A Word To Be Forgotten
"In a recent article, the authors present a rationale "for the elimination of the word dementia as a diagnostic term." They view the word as a "non-specific generality which can easily rob patients of their humanity in the eyes of others and, more importantly, in their own eyes. The term can stigmatize and isolate, making others reluctant, if not outright fearful, of dealing with the person." It is a dehumanizing expression with a past history of very negative connotations. "At its unkindest, it a word totally without hope - which is a crucial tool when faced with a devastating illness." As a solution, they suggest simply changing the D in FTD from dementia to Disease.
They are advocating this as "another important addition to the changing attitudes towards people with disabilities. It has great support among caregivers and increasing support among physicians. It is not scientific theory or law, but rather science/medicine catching up to advancing human sensitivity and values." Trachtenberg, D.I. and Trojanowski. J.Q, ArchNeurol/Vol 65 (No. 5), 593-597, May 2008)
With our film, we too look to overcome the stigma of being called demented, with its perception of being mad, crazy, or insane, to change to being a whole person with a disease just as any other person gets the same respect if they have diabetes or arthritis. They are all degenerative diseases in one form or another. Perhaps this de-stigmatizing will also encourage "Hope" for people to come for early diagnosis, rather than waiting and denying their problem. This is certainly vital for the future, when early diagnosis will eventually offer effective treatment and possibly cures.