Skip to Main Content
Walk To Defeat ALS

Search Our Site

Talk to Us

We're just a phone call or mouse click away. Call us toll free at (800) 782-4747 or email us.

ALS Registry

May 2012

Inside this Month's Exchange eNewsletter . . .


Ask the Doc: Q & A with Edward Kasarskis, MD, PhD

Edward 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. 

Dr Kasarskis

Dr. Kasarskis

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  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 Stuban

Sandra Stuban
with her husband, Steve

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?

A: This is probably one of the most difficult adjustments those of us with ALS must make. But it’s possible and necessary to enjoy your new life with ALS. Your idea of recreation and leisure activities may have been a round of golf, training for a marathon, a game of tennis or pickup basketball. You must now begin the transition from being an active sports participant to being involved and engaged mentally. You must change your emphasis from the physical to the mental.  

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.

Here are some ideas about how you can approach this:

  • Invite your friends to join you in your home to watch your favorite team or sport on TV.

  • Invite your friends to attend sporting events. All major league sports such as baseball, basketball, football, soccer and hockey have accessible venues. Wheelchair accessibility is not an issue.

  • Play fantasy sports. This has become a very popular hobby with millions of Americans participating. Participants act as owners to build a team that competes against other fantasy owners based on statistics of individual actual professional players. Examples of fantasy sports include baseball, basketball, football, golf, hockey, auto racing, professional wrestling and surfing.

  • Become an enthusiast for the Summer Olympics. With the Summer Olympics just around the corner (July 27 to August 12), you can plan get-togethers to cheer our athletes to victory.

  • Another form of leisure is as close as your computer. Discover online games. Yahoo Games is one website that offers a variety of choices including board games such as chess and checkers, card games such as blackjack and euchre, puzzles and word games. There are also online Scrabble, Words with Friends, Angry Birds, and much, much more.

If you would like to submit questions for a future Q & A, please send your questions to 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 Health

If 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?

  • When you get a test result, procedure or have surgery, get the summary in writing, keep a copy, and send or bring copies to all your other healthcare providers. Attach a simple note: "Wanted to keep you up to date on my health status. Please put this in my chart." If it's an important healthcare issue, be sure to bring up the data or problem at your next visit and mention that you sent a written summary for inclusion in your medical record.

  • Keep a list of all your medications and update it any time a healthcare provider adds or deletes a drug or changes a dosage. Bring a copy of that list to your medical appointments and to the emergency room if you end up there. Keep the list with you when you travel.

  • Don't leave your dentist or your optometrist/ophthalmologist out of the loop. They need to know the details of your general health status. It will help them diagnose and treat any issues they may identify with you. Be sure they know you have ALS, and if you have any infections, immune issues, heart problems, chronic conditions or are taking blood thinners or antibiotics, as well as other medications. 

  • If you have a test or procedure and you do not hear the results soon afterwards, do not assume the results were normal. Call the healthcare provider who ordered the test and ask the office staff to email or send you a written copy of the test summary. Keep a copy in your own "medical updates" file. If the test was indeed OK, you still should have copy for reference at a later time, if needed.

  • If you or someone you love ends up in the hospital, your role of communicator will be even more vital. Often multiple consulting physicians -- specialists -- are called by the admitting physician to weigh in on issues and questions that develop while you're in the hospital. They don't always talk to each other or even realize who has changed or added a medication, who has ordered a test, or what results are in. The more you communicate the better. If you are being asked to go back for a test you already had or if you have questions about what is happening, don't assume someone at the "nurses' station" has it all managed. Ask questions and be sure you understand what tests you're getting and why. If you are being discharged from the hospital ask for the results of any tests or procedures you had in the hospital. 

Core_Communicator.jpgThese 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.

                                                                                              By Barbara Bronson Gray, RN, MN

If You're Traveling Abroad

Internation Alliance logo.jpg

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:



An Easy Way to Carry Your Health Information

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 By inputting critical information on the website, protected by an access code, an emergency responder or emergency department staff members can access important information about you, including health conditions, medications you’re taking, allergies, blood type, and family/friend contacts. You can print out a simple card to keep with you just in case it’s needed.                                                          


Participate in these Educational Web Calls

Research Update

Hosted and organized by The ALS Association’s Research Department 

Virginia Lee
Virginia Lee, Ph.D.

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

For information about future calls, please visit our website and click on “Our Research Webinars.”


Assistive Technology Educational Series

IpadMay 21, 2012 (Monday) at 11:00 am PDT (2:00 pm EDT)   

 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


The ALS Association - 1275 K Street NW - Suite 250 - Washington, DC 20005
All content and works posted on this website are owned and copyrighted by The ALS Association. ©2010

Lou Gehrig® used with permission of the Rip Van Winkle Foundation /

Powered by Blackbaud
nonprofit software