October 2011
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October 2011 |
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This Month In . . . |
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Ask the Doc: Q & A with Edward Kasarskis, MD, PhDEdward Kasarskis, M.D., Ph.D. is Director of the multidisciplinary ALS Center at the University of Kentucky Neuroscience Center in Lexington, Kentucky, professor in the Department of Neurology at the University of Kentucky, and Chief of Neurology at the VA Medical Center in Lexington KY.
Q: I just heard about a new gene discovery associated with ALS. Is this really a big breakthrough, or just hype? A: Actually, we’ve had two big discoveries in the last two months. First, research published in the journal Nature in August by scientists at Northwestern University Feinberg School of Medicine found a new gene linked to familial ALS, a gene involved in how cells process accumulated proteins. This work builds on the concept of abnormal protein handling as a cause of ALS. Then, in late September, two studies published in the journal Neuron (both funded by The ALS Association) found a genetic abnormality on chromosome #9 that they think is the most common cause of ALS and frontotemporal dementia (FTD). Using advanced gene sequencing techniques, two independent teams of researchers found the same defective gene. They think that when that gene is transcribed into a messenger RNA molecule, it causes RNA to bind tightly with some proteins, forming clumps that somehow serve to derail normal functions in the cell. The abnormality, the researchers say, accounts for about 50% of familial ALS cases in Finland and more than a third of familial cases in other European populations. The gene defect is also the most significant genetic risk factor yet found for sporadic ALS; it was found in 3% of sporadic FTD and 4% of sporadic ALS samples in another study. Much of this success is thanks to the many patients and families who have been willing to donate blood samples for gene discovery. Their participation and involvement in this work is a significant and notable gift toward ALS research. At this point we do not know the percentage of familial and sporadic ALS cases associated with these genes. We also don’t know how prevalent the gene will be in Americans or people of non-European descent. We need to expand this work to include a broader range of population groups. However, the research is indeed significant because it fits with the current thinking about causes of ALS and builds on previous discoveries, especially the important work done over the last several years to better understand the role of the SOD-1 gene. The research will help direct further investigation of the individual genes and their protein products. When we look -- at autopsy -- at spinal cords of people who had ALS, we see abnormal aggregations in the nerve cells. We will soon come to understand how the normal cell eliminates worn-out proteins, and from that research we hope to learn how to turn on or off key genes, or the proteins themselves, to augment normal function. That’s when therapeutic solutions will be designed and tested. So, to answer your question more directly: it isn’t hype. We’re chipping away at the mystery of unknown genes, and the percentage of what we know is starting to grow by leaps and bounds. If you would like to submit questions for a future Q & A, please send your questions to Amber Walters at awalters@alsa-national.org. Please understand that we won’t be able to address all questions and we won’t be able to respond to individuals personally. Family Caregivers:
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Family caregivers are likely to skip doses of their own medications, according to an article published last month in the Journal of the American Pharmacists Association (paid registration is required to directly access the article). In a sample of 2,000 family caregivers, nearly one half said they were more likely to forget their own medications than the medications of those they were caring for. More than half said that if cost were an issue, they would forgo their own meds to pay for their loved one’s prescription drugs. Compared with non-caregivers, the family caregivers were also more likely to stop taking medications if they felt well; they also more frequently forgot to refill their prescriptions. |
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Sandra Stuban |
Sandra Lesher Stuban is an RN who was a 38-year old Lieutenant Colonel in the Army when she was diagnosed with ALS. She’s the author of The Butcher’s Daughter: The Story of an Army Nurse with ALS, in which she describes her journey openly and honestly. Although she is completely paralyzed and uses a ventilator, she lives an active life as a writer and nursing leader.
Q: Do you have any advice about how to lift your mood or improve your attitude on those “down” days when nothing seems right?
There are actually many things you can do. You may find some of my suggestions more effective than others and some may be more appealing or desirable. But first it’s a good idea if you can objectively look at when these “down” days happen. If you can identify a trigger or precipitating event, you can make changes to prevent your down days from happening in the first place. Here are some ideas to lift your mood and improve your attitude.
- Chat with a close friend. Nothing beats a good talk with someone you like. Just have a refreshing conversation about normal girl-talk or guy-talk things like current affairs, politics, sports, children or grandchildren, movies, local issues, or really anything. Sometimes refocusing your attention away from your day-to-day routines can reset your mood.
- Connect with your spirituality. A conversation with your pastor, priest, or rabbi allows you to speak frankly about your concerns and ask profound questions. This can be very comforting. Prayer, meditation and connecting with your inner self can also provide the strength you need to climb out of your doldrums.
- Be inspired. Sometimes it’s helpful to read about how other people overcame their own adversity. There are many choices. I can recommend my three favorites. Man’s Search for Meaning by Viktor Frankl is about a psychiatrist who survives death camps during Nazi Germany. When Bad Things Happen to Good People by Harold Kushner is about a rabbi who asks poignant questions after the death of his young son. FDR’s Splendid Deception by Hugh Gregory Gallagher is about our 32nd president’s challenges with paralysis following polio and how he led our nation from a wheelchair.
- Consult with fellow PALS. I am a firm believer in people with ALS helping people with ALS. That’s why I recently started an online ALS discussion group. Through emails sent to the group, PALS can pose questions and concerns that fellow PALS respond to. Nobody understands our issues better than someone who is in our same situation. To join the ALS Discussion Group, go to the group home page at http://groups.google.com/group/als-discussion. Then you can email the group at als-discussion@googlegroups.com.
If you would like to submit questions for a future Q & A, please send your questions to Amber Walters at awalters@alsa-national.org. Please understand that we won’t be able to address all questions and we won’t be able to respond to individuals personally.
Are You Comfortable Asking the Tougher Questions?
By Barbara Bronson Gray, RN, MN
There are a million reasons to forget to ask your healthcare providers questions. For some a physician’s visit is a little daunting; you may figure you’re there to see what your doctor says and learn what to do about it. You may be caught by surprise by something you hear and need some time to process the information before you can ask a question. And sometimes you just forget a question you’ve been meaning to bring up.
You’re not alone. Even those of us who are extremely familiar with the health care system - doctors, nurses, and the rest of the healthcare team - sometimes find ourselves at a loss for how to ask a question or express a concern when it’s our body that’s involved. In fact, the challenge of asking questions in a healthcare environment is the focus of a new campaign by the Agency for Healthcare Research and Quality (AHRQ) designed to help patients prioritize their top questions and concerns before their appointments, and to encourage doctors to urge patients to speak up.
Some questions are relatively easy to ask, such as “Where will I go to get this test?” or “How often should I take this pill?” That’s because there’s very little emotion involved. Questioning why a test or a drug is needed, or whether the benefits or outcomes from a procedure, surgery or medication are worth it can be a lot harder to do. And asking something very personal or deeply meaningful, such as “When do you think I will die?” can be so difficult they are often avoided altogether.
For the easier questions, all you need is a list, or a friend or family member ready to remind you or even ask on your behalf. For the harder questions, you may frankly need a complete change of attitude. You need to accept that while you may not be an expert in medical science, you can ask good, common sense questions about the care and treatment options available to you. You also need to see yourself not as a dependent patient waiting for orders, but rather as someone who owns and lives in your own body, and has the opportunity and responsibility to make decisions about what is done for you, by whom, and when.
With that new attitude comes a measure of increased responsibility. You have to be willing to do some research on your own, something that’s easier than ever before because of the accessibility of solid resources on the Internet. Having a little more information under your belt about the topic you’re concerned about may help you have the confidence to ask the tougher questions, and it may also help you make sense of the answers you hear. You can also talk with people in a support group or others with similar experiences to hear how they might approach an issue or topic with your physician or other members of the healthcare team. The better your question, the better the answer you’ll get.
Sometimes it may not be easy. If you’re wondering if you really need a diagnostic test your healthcare provider is suggesting, for example, you can ask something like, “Could you tell me what information you will get from the test and how that might affect my treatment?” You can also say, “Could I wait until my next visit to decide?” to buy some time to consider the option and perhaps to learn more. The goal is to convey your confidence in the person’s thinking, but also your concern about whether their plan is the right approach for you at the time.
At the AHRQ website, there is a series of new videos featuring real patients and clinicians talking about the importance of asking questions and sharing information: http://www.ahrq.gov/questions. Several of the people share how good communication helped them get an accurate diagnosis or avoid medication errors. The website also offers resources to help people be prepared before, during and after their medical appointments:
- An interactive "Question Builder" tool that enables patients to create, prioritize and print a personalized list of questions based on their health condition.
- A brochure, "Be More Involved in Your Health Care: Tips for Patients," that offers helpful suggestions to follow before, during and after a medical visit.
- Notepads designed for use in medical offices to help patients prioritize the top three questions they wish to address during their appointment.
- If possible, try to get anyone who may accompany you on your healthcare appointments to read this information and talk with you about how you’d like to approach any issues or opportunities that may come up during your next visit.
Participate in these Educational Web Calls
Assistive Technology Educational Series
What You Need to Know about Home and Van Modification
October 24 (Monday) at 11:00 am PT (2:00 pm ET)
Speaker: Alisa Brownlee, ATP, The ALS Association, Greater Philadelphia Chapter
An overview of ramp lifts and stair glides, and low cost home modifications versus major renovation. Additional information regarding vehicle adaption and accessible designed vans will be discussed.
Call-in toll-free number (US/Canada): 866-699-3239
Meeting Number: 821 310 960
Meeting Password: TopicCall2011
https://alsa.webex.com/alsa/j.php?ED=155306377&UID=1177532287&PW=NODg2MDg0ZmZj&ORT=MiM0
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Merit Cudkowicz, M.D. |
Research Update
TREAT ALS/NEALS Clinical network
October 18 (Tuesday) at 1:00 pm PT (4:00 pm ET)
Speaker: Merit Cudkowicz, M.D., Massachusetts General Hospital
This presentation will highlight upcoming clinical trials and how people with ALS can learn more. For information about how to join this call, please visit www.alsa.org, and click on: “Our Research, Research Webinars.”
Interim Data on Neuralstem ALS Phase I Trial Announced
Eva Feldman, M.D., Ph.D., Principal Investigator of the Phase I safety trial of Neuralstem Inc's human spinal cord stem cells in ALS, presented primary and secondary endpoint data on the first 12 patients at the American Neurological Association's annual meeting. The report indicates the procedure to be safe and some improvement in motor function.
Click here to read the full article.
Proposed PDUFA Agreement: the Right Prescription for People with Lou Gehrig's Disease
The ALS Association applauds the proposed agreement for the reauthorization of the Prescription Drug User Fee Act (PDUFA), which includes provisions that would help to encourage and expedite the approval of new treatments for rare diseases like ALS, also known as Lou Gehrig’s Disease. The proposed agreement was released by the Food and Drug Administration (FDA) on September 1.
PDUFA authorizes the FDA to collect fees from companies that develop drugs and biologic products. These fees help the agency cover the costs of drug reviews and currently account for about half of the agency’s drug review costs. The law originally was established in 1992 and has been reauthorized every five years since that time. The current law expires next year unless it is reauthorized by September 30, 2012.
Click here to read the full article.
Senate Committee Approves $6 Million for the ALS Registry
Great news! The Senate Appropriations Committee has voted to provide an additional $6 million for the ALS Registry in 2012!! The funding will allow the Registry to continue to identify cases of ALS across the country, collect additional information about the disease and expand exciting projects such as adding a biorepository and tools to help people with ALS learn about and enroll in clinical trials.
This is a tremendous victory for every person with ALS. It is a clear sign that Congress recognizes the critical role the Registry can play in the fight to find the cause, treatment and cure for ALS. It also is clear that ALS is a priority for the Senate. The Committee reduced funding, or eliminated it entirely, for most other health care programs. In fact, funding for the entire Department of Health and Human Services was reduced. Yet, the Senate maintained strong support for the Registry by keeping funding at the current level.
The full Senate still must vote on the Department of Health and Human Services Appropriations bill that includes the Registry funding, and the House Appropriations Committee also must vote on their version of the bill. Therefore, there are a number of steps remaining in the legislative process before we can declare victory this year.
We will keep you updated on the latest news and let you know when your outreach to Congress is needed. Thank you!
