Index to this Issue:

MDA Events, Campaigns Nationwide to Highlight ALS Awareness Gene Found for Early-Onset ALS Patriarch’s Energy and Curiosity Aid Gene Search Doing the Math … Profile: Creating Awareness One Day at a Time ALS Families Rely on MDA for Research, Services, Information Book Review: Photographer Pursues Beauty, Life MDA/ALS Research Centers

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MDA Events, Campaigns Nationwide to Highlight ALS Awareness

by Tara Wood

From lapel pins to a message on a world-famous skyscraper, MDA is telling the country about amyotrophic lateral sclerosis during May — ALS Awareness Month. In addition to the resources and programs offered year-round by MDA’s ALS Division, many special ALS-centered events are scheduled.

The wide-ranging endeavor includes educational seminars and conferences about MDA’s resources and help for people living with ALS, their caregivers and loved ones. Other efforts focus on teaching the public about ALS and seeking support for MDA’s effort to wipe out the disease.

Bumper stickers, MDA ALS Division pins, letter-writing campaigns and special mailings are just some of the ideas MDA offices across the country are implementing. Local and national news media will also be featuring stories about MDA clients with ALS, showing how the disease dramatically affects their lives.

“ALS is a vicious disease with no rules or limits about the lives it devastates,” MDA President & CEO Robert Ross said. “We want the public to understand what ALS is, and know that MDA is leading the fight to eradicate it.”

MDA’s ALS Division offers the most comprehensive range of services of any voluntary health agency in the nation, and leads the scientific battle against ALS through its aggressive, worldwide research program. MDA has invested more than $155 million in its ALS program to date.

New PSAs

Local Events

New York City

The Empire State Building will be lit up in MDA blue and white on the night of May 12, symbolizing the pinstripes of Lou Gehrig’s New York Yankees uniform. The special light theme will be paired with a press conference to proclaim ALS Awareness Month in the city and to publicize the Wings Over Wall Street gala fund-raiser for MDA’s ALS research Sept. 29.

MDA’s ALS Symposium and Vendor Expo will be held at Columbia Presbyterian Medical Center from 10 a.m. to 3 p.m. May 16. The keynote speaker is Hiroshi Mitsumoto, co-director of the Eleanor and Lou Gehrig MDA/ALS Research Center at Columbia.

Omaha

People with ALS are invited to an MDA Rally for a Cure at 7 p.m. May 1 at the Omaha Royals baseball game. The $10 tickets include admission to the press box and dinner. Nebraska Gov. Mike Johanns has proclaimed May as ALS Awareness Month for the state.

Los Angeles

Strike Out ALS events highlight the month. On May 15, at the L.A. Dodgers-Cincinnati Reds game at Dodger Stadium, recognition will be given to people with ALS and their families, friends and business associates who each raise $930 to fund 15 minutes of MDA ALS research.

On May 16, lectures and an ALS seminar are slated at Kaiser Hospital in Woodland Hills.

Des Moines

May 29 will be MDA/ALS Night at the Iowa Cubs game at Sec Taylor Stadium. The first 1,000 fans will each receive a baseball with MDA/ALS Division and Cubs logos.

More ALS Seminars

One of the many ALS seminars that highlight ALS Awareness Month

Dallas — Mini-seminars will be held on some clinic days at the MDA/ALS Center at the University of Texas.

Orange County, Calif. — Annual ALS Awareness Conference, May 8, 12 noon to 4 p.m., Children’s Hospital of Orange County.

Phoenix — ALS Life Planning Seminar, May 15, St. Joseph’s Hospital. Includes breakfast and lunch.

San Diego — May 15, 11 a.m. to 2:30 p.m., Children’s Hospital Dining Rooms A, B and C. Speakers will address equipment, therapy, caregiving and more.

Fargo, N.D. — Disabilities Awareness Conference, May 22, Ramada Plaza and Conference Center. The featured speaker is Karen Garnaas, MDA clinic co-director who specializes in ALS treatment.

Reno, Nev. — May 25, 10 a.m. to 2 p.m., Brick House at Bartley Ranch Regional Park

New Jersey — Five towns are slated to proclaim May as ALS Awareness Month: Woodbridge, Edison, Piscataway, New Brunswick and Perth Amboy.

Many cities will have MDA Lock-Ups that focus on ALS, or feature a baseball theme. Local business and community leaders are “arrested” and raise bail money to benefit MDA in these popular fund-raising events.

Watch for ALS-themed Lock-Ups in cities including: Atlanta; Beaumont, Lufkin and Tomball, Texas; Collinsville, Ill.; Fort Dodge, Iowa; Jacksonville, Fla.; Montgomery, Ala.;  New Haven, Conn.; Philadelphia; Roanoke, Va.; St. Cloud, Minn.; and White Plains, N.Y.

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Gene Found for Early-Onset ALS

May Shed Light on All ALS Forms

by Margaret Wahl

An international research group that received significant MDA support has isolated a gene for a rare, slowly progressive, early-onset form of ALS. The disease, called ALS4, has been known since 1998 to result from a defect on chromosome 9 (see “Gene Mapped,” April 1998).

The finding, published this month online in the American Journal of Human Genetics, shows that mutations (flaws) in the gene for a newly identified protein known as senataxin are responsible for this unusual form of ALS.

Although senataxin’s cellular function is far from  completely understood, it appears to play a role in the way RNA — the chemical step between DNA and protein manufacture — is processed inside cells.

Clue to ALS Mechanisms

The ALS4 research team at the University of Washington, Seattle. Left to right: Craig Bennett, Huy Huynh, Ying-Zhang Chen and Phillip Chance.

The finding will certainly lead to genetic diagnosis and perhaps to treatment for ALS4, but researchers are optimistic that it may have broader implications for ALS in general.

Phillip Chance, professor of neurology and pediatrics at the University of Washington in Seattle, led the international team, which pooled DNA samples from four countries.

“Given that mutations in senataxin associated with ALS4 lead to motor neuron degeneration, a shared disease mechanism in all forms of ALS, both juvenile- and adult-onset types, might exist,” Chance said.

MDA grantee Craig Bennett, research assistant professor of pediatrics at the UW, also thought the new finding might have meaning beyond ALS4.

“While it’s very early in our analysis, it’s quite an intriguing suggestion that pathways that lead to ALS4 may overlap with those that lead to motor neuron death in other [contexts],” he said. “More specifically, we hypothesize that common pathways may involve defects in RNA processing in motor neurons. Such questions may be addressed and answered in systematic research studies.”

Another research team has already discovered that a different mutation in the senataxin gene can lead to the neurologic disorder ataxia-oculomotor apraxia.

Early Onset, Long Survival

ALS4 begins in childhood or adolescence and progresses slowly throughout life. Like other forms of ALS, the disease causes progressive weakness of the limbs, particularly of the lower legs, feet, forearms and hands.

But, unlike other forms of ALS, which usually lead to death within a few years from respiratory impairment, ALS4 doesn’t appear to affect the respiratory muscles. The muscles involved in chewing, swallowing and speaking (the bulbar muscles) are likewise spared, in contrast to adult-onset ALS.

People with ALS4 can lead a long life, albeit one eventually affected by severe disability.

In its early stages, the disease is so mild it’s sometimes been diagnosed as Charcot-Marie-Tooth disease, a much less severe condition than ALS.

The research team, which included MDA grantees Ying-Zhang Chen at the UW and Klaus Wagner at Karl Franzens University in Graz, Austria, pooled DNA samples from families with juvenile-onset ALS in the United States, Belgium, Austria and Australia (originally from England). Mutations in the senataxin gene were identified as the cause of the disease in all but the English family living in Australia.

Chance said the new finding wouldn’t have been possible without the assistance and determination of Andrew Mattingly Jackson, patriarch of the Mattingly family, in which some 50 people have been affected by ALS4. Chance was also a member of the team that found in 1998 that the ALS4 gene lay within a small region of chromosome 9.

Recruitment for the U.S. part of the study, which included a large family reunion in the mid-1990s, was “organized almost single-handedly by Andy Jackson,” Chance said (see “Energy and Curiosity”).

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Patriarch’s Energy and Curiosity Aid Gene Search

Andrew Mattingly Jackson

Most days, you can find Andrew Mattingly Jackson at home in Parkville, Md. He’s at his computer, taking care of church business or answering questions from people with the unusual form of ALS that has affected the Mattingly family for generations.

Jackson, 76, types with the aid of a device that suspends his arm above the computer, and stands only with the help of a Permobil power wheelchair.

The disorder that affects Jackson and at least 50 other members of his family is now known as ALS4 — an early-onset, slowly progressive form of the disease (see “Gene Found”).

Childhood Beginnings

Looking back, Jackson says, he realizes that symptoms may have been present even in his childhood. That would explain his poor running ability and lack of athletic prowess, he says.

But he was able to enter the U.S. Navy at 18, in 1945, passing the physical and making it through the rigors of boot camp.

Then, two years into his service, it became clear to Jackson that something was wrong. After a day of hauling chains up from the river bottom in Green Cove Springs, Fla., he began to feel extremely weak. The next day, he could barely climb the ladders on board his ship.

Jackson checked into sick bay and was promptly referred to a Pensacola, Fla., hospital, where the eventual diagnosis came as a nasty surprise: ALS.

Uncertain Course

For years, Jackson waited, wondering whether his disease course would follow Lou Gehrig’s. It didn’t.

Throughout his 20s, he could do almost everything most people his age could do, although by his 30s he needed a cane. Doctors at the medical center at Johns Hopkins University in Baltimore revised his diagnosis to Charcot-Marie-Tooth disease, which carries a much better prognosis than ALS.

Then, in the 1960s, Jackson got a call from a doctor at the National Institutes of Health in Bethesda, Md., asking if he’d like to be part of a study.

At the time, Jackson was only dimly aware that his neurologic disease affected dozens of members of his family. He knew that his father was slowing down and losing strength, and he remembered with a certain apprehension that his grandmother (a Mattingly) had once told him that a mysterious “creeping paralysis” ran in the family.

It was at NIH that Jackson learned how widespread the disease was in the Mattinglys, and he became interested in his family history. Eventually he constructed pedigree charts that were useful to research on the disease.

By his 40s, Jackson could no longer grip his cane. He began using a walker in his 50s, as his strength continued to ebb.

Detective Work

The Mattingly family reunion on Solomon’s Island in 1994 gave researchers the DNA samples they needed to locate the ALS4 gene.

In the early 1990s, Jackson again visited doctors at Hopkins. DNA diagnosis had become available, and he and his doctors wanted to get to the bottom of the Mattingly disease.

With Jackson as impresario, and an MDA-supported research team led by Phillip Chance on the project, a Mattingly family reunion was held in June 1994 on Solomon’s Island, Md., actually a peninsula on the Chesapeake Bay, south of Baltimore.

Amid the food and fun, blood samples were taken from affected and unaffected family members for DNA analysis. In 1998, the researchers published the finding that this unusual disease resulted from a genetic flaw somewhere in a small area of chromosome 9.

It would take six more years and additional data from Belgium and Austria to find the actual gene responsible.

Without Jackson’s unflagging energy, Chance says, the whole project might never have been undertaken, and a piece of the ALS puzzle might have stayed buried.

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Doing the Math …

by Reda Rice

Christopher and Reda Rice, ALS Division Co-chairpersons. Chris received an ALS diagnosis in late 2001. The Rices have three children.

We need to get past the lab rats, and we need to do it fast! 

The cure for ALS we all hope for isn’t out of reach, but the brilliant minds who dedicate themselves to MDA’s ALS research program need our help to get funding for their work.  

Ordinary families can make a difference by allowing their loved ones to help.

I say “allow” because most of the time that’s all it takes. Just letting your friends, family, neighbors, church family and co-workers know about fund-raising events and opportunities “allows” them to make their own decisions. Assuming they don’t want to be bothered denies them this choice.

Allowing your loved ones to be involved will make a difference, not only in your life but in theirs. It’s the ultimate win/win situation!

Ask!

If you’re like Chris and me, you don’t want to become a nuisance by asking the same people for help over and over. We rotate which family or organization we notify about each MDA fund-raising opportunity.

For example, we’ve participated in Houston’s MDA/ALS Walk ‘n’ Roll for three years. Each year, we’ve asked different groups of 10 people to take part. I feel great whether we bring in $300 or $3,000.

The key to getting others involved is not to be obsessed with the amount of money you could raise, but just to concentrate on the blessings you bring to those who know your family. You’ll be surprised at the reactions you receive.

A neighbor asked why he hadn’t received an MDA Wish Card [inviting him to make a pledge] during last year’s Jerry Lewis MDA Telethon as he had in 2002. I explained that I send them to different people each year, and he let me know that he wanted to get one every year!

We had no idea that this giving opportunity meant that much to him and his family. If we’d never sent him a Wish Card to start with, we still wouldn’t know.

Chris’ co-workers at Lincoln Property have participated in MDA’s annual ALS Research Dinner  in Houston for two years. We tell them they’ve done their share, but they continue undauntedly in their efforts. If we hadn’t brought this opportunity to them, ALS would have lost $53,000 for needed research.

Add It Up!

As Jerry Lewis says during the Telethon, it’s the quantity of donations that brings up the amount of research dollars. The “quality” ones are a bonus but we’d be nowhere without the volume.

We have a “volume” of people affected by ALS — as many as 35,000 in the United States — and a bigger number of loved ones who are looking for a way to feel involved.

Doing the math on that makes me excited about the possibilities! How about you?

Keep the hope and let others help.

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Creating Awareness One Day at a Time

by Kathy Wechsler

Karen Toloui, left, cuts Karen Jorgensen’s waffles at a restaurant in Berkeley, Calif., in July 2003.

“I take this as just another challenge for me,” said Karen Jorgensen, 61, who received a diagnosis of ALS two years ago. “I’ve always been very optimistic. And I think that’s a good way to start.”

Living in Berkeley, Calif., with her partner, Karen Toloui, and Jorgensen’s two adult children, Nahjeen and Neevon, Jorgensen uses a power wheelchair and tires easily because of respiratory problems brought on by ALS.

Instead of dwelling on her symptoms, the former teacher feels fortunate to have lived such a full and rich life.

Making the Most of It

“I’ve done things I really feel good about,” said Jorgensen, who has written a memoir and is looking for a publisher. “So, I think it’s because I feel satisfied with my life that I stay so positive.”

Half narrative and half photographs, Jorgensen’s manuscript is called Falling Practice. The title is a metaphor for loss and is about her experience living with ALS.

“Loss is something that we all have to cope with. Life is really about loss and adaptation,” said Jorgensen, who lost her eldest daughter, Gita, in an automobile accident three years ago. The title of her manuscript reflects the loss of muscle function, mobility and ability caused by ALS.

“It speaks not just to people with ALS. I think that it speaks to a broader audience,” Jorgensen said. “We’re all going to die. Our bodies are all going to change. We just have to come to terms with that. I try in my way to deal with it.”

With an emphasis on living in the moment, Jorgensen’s memoir relays the danger of holding onto false hope.

“If you’re always hoping that there’s going to be a cure, you’re going to be set up, especially with this disease, to so much suffering and disappointment in the process,” said Jorgensen. “Part of what I’m talking about in the book is simply accepting, at the same time taking care of myself. You have to kind of hold both things at the same time.”

Jorgensen is collaborating with a young photographer, Erin Lubin, who has taken beautiful pictures of her daily life for more than a year. Jorgensen has given Lubin permission to photograph her until the end of her life.

“There isn’t another book that really shows people what this disease is like,” said Jorgensen, who hopes to get her book published before she dies. “Even despite all of that, I think Falling Practice is very upbeat.”

Knowledge Is Power

“I just felt it was something I needed to write,” Jorgensen said. “I wanted to have my say. Since I have this disease, part of me just wants to teach people what it is.”

Jorgensen’s desire to educate isn’t a new development. She’s worked in education for 25 years, has the heart of a teacher and loves to write.

Most recently a 7th-grade English and history teacher, Jorgensen was forced to retire in June 2002.

“I didn’t really want to leave teaching. I loved it. On the other hand, I just had to come home and rest,” Jorgensen said.

Wanting to try her hand at a variety of teaching positions, Jorgensen gained experience teaching elementary and middle school as well as one-on-one reading with struggling students through the Title I reading program.

In the process, she became involved in national teacher training. She’s written a number of curriculums about social studies and history, and published two books for teachers that were distributed nationally and internationally.

Jorgensen receives physical therapy from her full-time caregiver, Amelene Felix. Photos by Erin Lubin

Give Me an‘O!’

Jorgensen sent her manuscript with pictures to her friend Judy Stone in New York. Stone, an editor of “O” (Oprah Winfrey’s magazine), liked it so much she decided to excerpt 3,000 words from Falling Practice and submit it to “O” magazine as a possible article.

With her article still in the final stages of acceptance, Jorgensen hopes that exposure in the popular magazine will improve her chances of getting her book published.

“It would be great if it were in ‘O’ magazine,” said Jorgensen, who’s devoted to creating awareness of ALS. “There’re so many women that read that magazine. Oprah is so powerful.”

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ALS Families Rely on MDA for Research, Services, Information

The Muscular Dystrophy Association’s assistance to people with amyotrophic lateral sclerosis and their families is the most comprehensive such program of any voluntary health agency in the country. In 2004, MDA is spending $15.6 million on research and services for those with ALS.

MDA’s ALS Division assists Americans with ALS through:

Medical Care

Anyone whose doctor suspects ALS can call a local MDA office and get an appointment at one of MDA’s 230 hospital-affiliated clinics or its 30 designated MDA/ALS centers at major medical institutions across the country (see “ALS Centers”). There, a multidisciplinary team of the area’s local ALS experts, including neurologists, other physicians, nurses, therapists, social workers and more, will provide a diagnostic examination.

Those with ALS who are registered with MDA are seen for regular follow-up examinations by these experts throughout the course of the disease.

Family Support

Through its local offices, MDA offers support groups for those with ALS and their caregivers.

You can borrow devices to help with day-to-day living from MDA’s equipment loan closets. When you’re ready to purchase durable medical equipment, MDA will help with the cost of wheelchairs, leg braces and communication devices, as well as wheelchair repair.

Research

MDA grantee Alan Pestronk conducts ALS research at Washington University in St. Louis.

MDA’s ALS Division funds more research seeking causes of, and treatments and cures for, ALS than any other voluntary health agency in the country. MDA funds top researchers around the world and conducts clinical trials of drugs and other potential ALS treatments. Anyone interested in participating can find details online about clinical trials or by following news reports on MDA’s ALS Web site.

Online Information

MDA is the nation’s best source of news about ALS research developments. Its publications also provide thorough information on coping with the medical, financial, emotional and other challenges presented by the disease.

The starting point for this information is MDA’s ALS Web site or your local MDA office.

At the Web site, in addition to news, you’ll find:

• Regular chats for those dealing with ALS and for their caregivers and families

• Special online seminars led by the world’s top ALS experts

• Back issues of The MDA/ALS Newsletter

• Links to a list of ongoing and open clinical trials. The current regularly scheduled chats related to ALS are:

• Positive Thinking, every Thursday, 8-9 p.m. (all times Eastern)

• Living with ALS for people with ALS and their caregivers, every Monday, 4-6 p.m.

• Spouse-Caregiver Chat for spouses and caregivers of people with any neuromuscular disease, every Monday, 3:30-4:30 p.m.  

MDA also hosts a series of clinical and research chats featuring guest experts. Recent sessions have covered respiratory care, ALS inheritance and genetic research, nutrition and exercise, treatment of ALS symptoms, quality of life, ALS research mouse models, clinical trials, pain management and more.

Watch this newsletter for the latest chat schedule, or find it online. And you can find online complete transcripts of all MDA chats.

Publications

Several ALS-specific publications and videos are available at your local MDA office or from MDA National Headquarters at (800) 572-1717. Many of these can also be found online at the MDA ALS Web site.

ALS: Maintaining Nutrition:  A 130-page book geared to physicians covering swallowing, diet, alternative feeding methods and tube feeding. Prepared by the MDA/ALS Center medical team at Baylor College of Medicine.

Facts About Amyotrophic Lateral Sclerosis: An MDA pamphlet, revised in 2002, providing a detailed description of the disease’s symptoms, possible causes, treatments and current research. Free to those registered with MDA who have ALS.

Los Hechos Sobre la Esclerosis Lateral Amiotrofica: The Spanish translation of Facts About ALS. Free to those registered with MDA who have ALS.

MDA/ALS Newsmagazine (formerly The MDA/ALS Newsletter): A monthly publication designed to provide news, with a focus on current ALS research, and profiles of people living with ALS. Mailed free to those registered with MDA who have ALS.

Meals for Easy Swallowing: A 125-page book containing a collection of recipes for easy-to-swallow foods and beverages, as well as suggestions on food preparation and service. Prepared by the MDA/ALS Center medical team at Baylor College of Medicine; can be ordered online for $6.

Quest: MDA’s bimonthly national newsmagazine, containing in-depth stories about issues of living with any of the neuromuscular diseases MDA covers, as well as Association activities, helpful products and research news. Mailed free to those registered with MDA; $14 yearly subscription for others.

When a Loved One Has ALS: A Caregiver’s Guide: A comprehensive, 60-page, illustrated manual filled with practical advice for meeting the medical, emotional, financial and everyday challenges faced by primary caregivers for people with ALS, and including an extensive list of resources. The primary caregiver for anyone with a diagnosis of ALS who is registered with MDA can receive a free copy of the guide, which was revised and updated in 2003. For others, there’s a charge of $15.

Also available are books on equipment and techniques for prolonging muscle function, enhancing independence and alternative feeding techniques.

Videos

MDA offers several videos about and for ALS support groups.

Videos available from local MDA offices offer helpful guidance on setting up an ALS support group; ventilation options; and ALS research findings.

ALS: Maintaining a Positive Perspective: Steven and Jennifer Bishop, 2003 co-chairpersons of MDA’s ALS Division, share their positive approach to living with ALS. This 15-minute video is geared toward support groups.

The MDA Support Group and You: A 15-minute video for families who haven’t attended an ALS support group meeting.

Your MDA/ALS Support Group: Getting Started: A 15-minute video hosted by the Bishops to help a new support group get going.

Breath of Life and Breathe Easy: Two MDA videos about ventilation options for people with neuromuscular diseases. The first, at 25 minutes, is for medical professionals; the second, at 27 minutes, is for patients, families and caregivers.

With Strength and Courage: Understanding and Living With ALS: A 24-minute video geared for newly identified ALS patients. Hosted by actor Ed Fry and featuring MDA/ALS Center Director Stanley H. Appel, the video was produced in 1996.

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Photographer Pursues Beauty, Life

Challenging Nature Photography, by Angelo Sciulli, 149 pages, 2003, $15.95. Order from www.ebookstand.com/m/angelosciulli;  (425) 315-1434; authorservices@ebookstand. com.

Angelo Sciulli’s autobiography is — like his photographs — perfectly focused, candidly realistic and deceptively simple. The result is astonishing, undeniable beauty.

Having retired from his job in industry in 1997 to begin a second career as a nature photographer and writer, Sciulli soon began experiencing muscle weakness. In 1998, he learned that he’d have an unexpected companion on his new journey: ALS.

His book is titled after the traveling exhibit of his  photographs that he’s dedicated to raising awareness of ALS.  

The book describes several photography trips to destinations as near home as the North Carolina shore (he and his wife, Jan, live in Lancaster, S.C.) and as far away as Kenya, Italy and the Galapagos.

Angelo Sciulli

As he pursues his passion, Sciulli, 57, evolves an approach to his changed life: He’ll continue doing what he loves, arranging for whatever help is necessary, with a focus on what he can do today. He explains, “I cannot take a single step without some sort of assistance. However, once I get to where I want to go, I can take images that are publishable.”

Reading about Sciulli’s journey, we learn much about nature; and about the friends and technology that assist him with mobility, communication and photography. With humor and candor, he shows how the rewards of patiently waiting for a gopher tortoise to cross his path or a black bear to emerge put ALS in perspective for him.

The book’s only flaw: It has just one of Sciulli’s photos, the cover picture taken in the Ozarks on his first post-diagnosis trip. To see more of his stunning work, go to his Web site, or see “Seeing Is Believing,” MDA’s Quest magazine, September-October 2003.

Angelo Sciulli photographed this sea lion in the Galapagos Islands in 2002. Two of his photographs are in the MDA Art Collection.

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