National Alzheimer's Project Act: Public Comments on Advisory Council Meeting, March 2012

• M. Hogan  |  03-14-2012
• K. Summar  |  03-13-2012
• S. Terman  |  03-09-2012

Please submit my attached testimony to the public comment section of the NAPA website.

Public Testimony
NAPA Advisory Council Teleconference Meeting
March 14, 2012

On January 17, 2012 I addressed the Advisory Council about the need to include people with Down syndrome in all aspects of dementia related research, including clinical trials. I come before you today with great concern that any reference to Down syndrome, a genetic condition known to pose a considerable risk with respect to dementia, has been obviously omitted from the current Draft National Plan, particularly in Goal 1. This group of individuals deserves to be specifically identified in the National Plan. A vague reference to their existence embedded in the 21st page of the current Draft is grossly understated and should be remedied in future Draft National Plans.

Support for research is essential to better understand the disease process, the potential for early identification and the possibility for improved treatment practices. This research may not only benefit individuals with Down syndrome but the general population as well. The Research Summit in May 2012 referred to in the Draft National Plan should be inclusive of those involved in the study of Down syndrome. I strongly urge you to give serious consideration to the letter submitted by the nationally recognized group of researchers and clinicians read today by Dr. Peterson. Inclusion will help to reduce the potential for greater medical disparities so often faced by this group of individuals. I urge you to act responsibly in their regard. Though some members of the Advisory Council may consider Alzheimer's disease within the Down syndrome community as a different disease process, I can assure you, as a family member, that it looks the same, acts the same and has the same tragic ending, more often at a much younger age.

Families of those with Down syndrome and other intellectual disabilities deserve more than inattention by the Advisory Council and the Draft National Plan. Care commitments for adults with late life disability attributed to the onset of dementia can differ from the care commitments required for those with lifelong disabilities who then develop dementia. Certainly, these distinctions warrant mention in the Plan. The plan should include specific reference to the need for special supports for family caregivers now dually challenged by lifetime care sacrifices and the emerging additional needs of an adult child with an intellectual disability affected by dementia. As individuals with intellectual disabilities live longer and may be predisposed to the development of Alzheimer's disease, the role of caregiving is now, more than ever, assumed by siblings of the individual. These family members potentially face the challenges of not only the care needs of their adult sibling with an intellectual disability and dementia but also their parents who may be facing the same issues related to decline. This overwhelming dual role is under recognized and most worthy of notation in the National Plan.

The current draft plan makes no mention of individuals with intellectual disabilities other than the reference in section 2H. Section 2.H.1 recommends the establishment of a future task group to address the issues related to "racial and ethnic minorities and people with intellectual disabilities". It is important to clarify that people with intellectual disabilities tend to develop Alzheimer's disease at the same rate as the general public. People with Down syndrome have a known genetic mutation that results in early onset and a much higher incidence. Reference to the needs of those with Down syndrome should be specifically embedded in all sections of any finalized document, not deferred to some future taskforce.

My great concern is that little or no attention will be paid to the populations disproportionately affected by Alzheimer's disease after the National Plan is finalized and disseminated. The potential for this to occur can easily become reality as the Affordable Care Act is brought into question and the possibility for a change in HSS leadership exists in an election year. I urge both federal and non-federal members of the Advisory Council to do the hard work required to address the needs of all individuals that face the debilitating ravages of Alzheimer's disease. Be thorough and inclusive in your plan and do not yield to the pressure to produce a document that cannot be defined as such.

I understand that the advisory committee for NAPA will be meeting tomorrow. My boss would like to have the attached letter submitted as part of the record. Is that possible?

Francis S. Collins, MD, PhD
Director, National Institutes of Health
Bethesda, MD

As you mentioned in the Washington Post yesterday, "The science of Alzheimer's disease has reached a very interesting juncture." In that light, I would like to underscore the importance of the relationship between Down syndrome and Alzheimer's disease.

As you know, the pathological findings of Alzheimer's disease have been found in the brains of people with Down syndrome since the late 1800s. You also know that there are 400 genes on the extra chromosome 21 of people with Down syndome. Of these 400 genes, at least 4 candidate genes may play a role in the development of Alzheimer's disease (APP, BACE 2, SOD 1, and RCAN 1). Moreover, Alzheimer's disease attacks adults with Down syndrome at very young age with increased frequency and venom, resulting in tremendous care taker issues for families.

This evidence points to Down syndrome as an important model for Alzheimer's disease. NIH and NICHD, in particular, are building on this significant correlation through cognitive and imaging research. I believe this research will undoubtedly inform treatment strategies for both the cognitive deficits in Down syndrome as well as the cognitive loss associated with Alzheimer's disease.

As the Institute moves forward with crucial Alzheimer's disease research, I encourage you to look closely at the models that have been developed with respect to Down syndrome and the important research being conducted by NICHD.

I wish to make this statement on Wednesday, orally, during the Teleconference, and to have these words below and the names of the co-signers, part of the transcript:

For patients who will someday suffer from Alzheimer's and related dementias, Advance Care Planning is most urgent, most important, and most challenging. The process of expressing one's end-of-life wishes in advance warrants both 1) the development of innovative planning tools that are easy, effective, and acceptable to both patients and physicians, and 2) sufficient effort to encourage people to complete them.

Why is Advance Care Planning most urgent? Unlike most diseases, patients who have dementia typically lose mental capacity to make end-of-life medical decisions early in the course of the disease. Once their window of opportunity to make decisions closes, they will not be able to participate in their own end-of-life planning. The huge epidemic predicted for Alzheimer's makes promoting Advance Care Planning urgent on a societal level.

Why is Advance Care Planning most important? Unlike most diseases, patients can linger in the terminal stage of Advanced Dementia for several years. They may frustrate clinicians, caregivers and loved ones as their disease ravages on. The multiple burdens on others are well known. More than one-third of caregivers are depressed. Yet the suffering patients themselves experience is under-appreciated. For too many, pain and suffering may go unrecognized and therefore under-treated for months, or even years.

Why is Advance Care Planning most challenging? Unlike most diseases, there are often no life-sustaining treatments that physicians can withhold or withdraw. Typically, a strong body houses a feeble brain. Many who feel the pang of the "Dementia Fear" consider "premature dying." This kind of thinking is typical: "If I don't kill myself now, I won't be able to kill myself later. I'll be trapped in a condition I hate so much that I'd rather be dead." Those who act on this fear only increase the tragedy of their disease. We must offer patients an effective advance care plan so they can feel confident they can avoid a prolonged dying of months to years with suffering and burdens. Then they will choose to live as long, and as well as possible--as they benefit from improvements in medical and non-medical management of their disease.

Advance Care Planning that specifically includes Advanced Dementia needs funding to develop and implement, even if researchers discover new drugs that delay the onset of symptoms or slow down their progression. Here's why: Changes in the brains of afflicted people start one or more decades before clinical symptoms emerge. Meanwhile, it will at best take many years to prove the safety and efficacy of new drugs and adopt a policy for widespread treatment. Realistically, most of the 76 million baby boomers who are now destined to get dementia will probably still become demented. Even if new drugs were available today, Alzheimer's-afflicted with who do not die of another cause will eventually reach the stage of Advanced Dementia... and, wWhen they do, they will be able to rely only on their Advance Directives, to control how long, and how much, they must suffer before they die.

To reduce end-of-life suffering of millions of victims of Alzheimer's disease and their loved ones, we thus must: 1) develop new Advance Directives that are easy, effective, and acceptable; and, 2) implement programs to encourage people to complete them.