May 2012
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Inside this Month's Exchange eNewsletter . . . |
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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’ve heard about the research that discovered a genetic mutation that seems to be responsible for frontotemporal dementia and ALS in families. The research stories I’ve read are quite complicated. Can you please boil it down and explain the implications for people with ALS? A: Yes, the results are complicated for sure. Before diving into my explanation, I must say that this research would never have occurred without patients and their families donating their blood samples and DNA for research. Without that high level of participation, we would never have been able to make such a significant breakthrough in our understanding of ALS. Recall that there are two general forms of ALS: Familial (FALS, with many blood relatives affected by ALS usually in each generation), and Sporadic (SALS, with no known blood relatives affected). In both forms, there is a spectrum of physical findings, which in some cases involves frontal lobe dysfunction, called frontotemporal dementia or FTD. The families involved in this research had cases of FTD, typical ALS, or a combination of both in the same patient. In one report, the families resided in Finland and Europe, and in the other, Canada and the United States. Using the isolated DNA from the blood of these families collected over many years, researchers mapped the genetic codes of affected and non-affected individuals through several generations and analyzed the data. It was an arduous task. A "hot spot" on Chromosome 9 (official location, 9p21) kept popping up in their findings as a region of interest. This is somewhat like saying your house (the mutated gene) is somewhere in ZIP Code 40503 (Chromosome 9, 9p21) -- a true statement but still a long way to go to find the house. These two independent studies found the identical genetic abnormality in their two populations. That abnormality appears to be the most common cause of FALS with FTD. The researchers, using abundant super computer power (next-generation sequencing technology), discovered a unique mutation: a short DNA sequence that was repeated many more times in people with ALS, FTD, or both as compared to those relatives in the family without the disease. These research teams found what is called a "GGGGCC hexanucelotide repeat" in a specific gene (abbreviated "C9ORF"). It turns out that this area of DNA is normally repeated only two to 23 times, but in ALS or FTD patients, it is repeated over and over again. At the fundamental genetic level, these results show that ALS and FTD are linked. In addition, this repeat in the C9ORF gene was found in some patients who did not have a family history, and thus would be considered SALS. The research was published in the scientific journal Neuron. The implications of this research are potentially huge. First, in Finland the abnormalities in the C9ORF gene and the SOD1 gene now account for almost all of the FALS cases in the country. Second, the fact that C9ORF is present in both ALS, and ALS with FTD means that there is likely a common mechanism for neuron dysfunction and death. Third, the C9ORF findings might contribute to the development of ALS in some (but not all) of the sporadic ALS cases. And finally, this discovery expands the number of potential drug targets for future therapy. So the next time someone invites you to participate in an ALS research project, please roll up your sleeve, give blood, donate a skin biopsy sample, contribute to population-based studies and volunteer for drug trials. I realize that ALS is a devastating diagnosis and that the rigors of daily life take their toll on people with ALS and their families. But please seriously consider volunteering for research into this disease. There really is no other choice if we are to make progress toward a cure. If you would like to submit questions for a future Q & A, please send your questions to theexchange@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. Advice from the Trenches
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:I’ve had ALS for a couple of years now and am now facing significant mobility issues. I just realized summer is right around the corner, and so many of the things I always loved to do seem so hard now, even impossible. I realize that recreation and leisure don’t mean the same thing to me as they once did. Sometimes just going anywhere seems like more work than it’s worth. How do you deal with this? How can I look at leisure differently, with more interest, anticipation and enjoyment? How do you do that? It requires a determination not to dwell on the frustration of losing an ability but rather looking ahead positively and figuring out what you can do about it. Accept the issue as you would accept a challenge to compete.
If you would like to submit questions for a future Q & A, please send your questions to theexchange@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. How to Be the Core Communicator about Your HealthIf you’re like many people, you see several health providers. In addition to a general practitioner, you may also have specialists, dentists, ophthalmologists, and even an emergency room doctor or urgent care provider. Unfortunately, you can’t assume one health provider knows what the other has done or prescribed for you. So you have to be the central communicator. Unfortunately, that role requires a fairly high level of knowledge about medicine and the ability to get written information from one specialist so you can send it to another. The more complicated your problems, the more fragmented your care will be. The average Medicare patient sees two physicians and five specialists a year, (according to The Fragmentation of American Health Care: Cases and Solutions, edited by Einer Elhage). Those with a chronic illness see an average of 13 physicians a year. It's important you know that no one is picking up your medical records and automatically delivering them to the physicians in your life who should know what's happening with you. Consider yourself the person most responsible to collect written updates, copies of test results and lists of new and changed medications and get them to all your other healthcare providers. What should you do?
By Barbara Bronson Gray, RN, MN If You're Traveling Abroad
The International Alliance of ALS/MND Associations is an excellent resource for people with ALS who are abroad. To find an organization outside of the United States, you can refer to their directory of countries at: http://www.alsmndalliance.org/directory.html
An Easy Way to Carry Your Health Information
Participate in these Educational Web CallsResearch Update Hosted and organized by The ALS Association’s Research Department
May 21, 2012 Monday at 1:00 pm, PDT (4:00 pm, EDT) TDP-43 Proteinopothies in ALS Dementia Speaker: Professor Virginia Lee, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, PA Call-in toll-free number (US/Canada): 1-877-668-4490 Meeting Number: 828 221 730 Meeting Password: Chicago1 https://alsa.webex.com/alsa/j.php?ED=165062797&UID=1209165842&PW=NMDNiOGQyN2Ix&RT=MiM3 For information about future calls, please visit our website and click on “Our Research Webinars.”
Assistive Technology Educational Series
Improving Quality of Life through iPad Technology Speaker: Alisa Brownlee, ATP, ALS Association, Greater Philadelphia Chapter Call-in toll-free number (US/Canada): 877-668-4490 Meeting Number: 829 580 537 Meeting Password: Topiccall1
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These recommendations may sound a little over-whelming. But it’s usually not so hard. Just remember: Get written copies of every test, procedure and surgery, keep a copy of each for yourself (you'll be the only person in the entire healthcare system with a complete copy of your own medical record), and give copies to your healthcare providers. Ask questions when you don't understand why someone wants to order a test for you. Bring a knowledgeable person along with you to healthcare appointments, if you like.
Whether you’re at home or traveling, it’s smart to have an emergency medical information card in your wallet. You can create one free at 
May 21, 2012 (Monday) at 11:00 am PDT (2:00 pm EDT) 
