Newswise — It was just two years ago this month that Michele Norlin, financial aid director at the Chadwick School in Palos Verdes, was diagnosed with amyotrophic lateral sclerosis (ALS). While a large part of her job for the past 14 years has been to help students gain a better education that will prepare them for life, she now hopes that by telling her story, she will help educate the public about ALS and the role stem cell research may provide in finding a cure for this debilitating disease.
In 2006, Michele, then 57 years of age, began to experience an odd collection of symptoms that started so gradually at first she didn’t even notice them. The single mother of two adult daughters had just returned from an extended overseas trip with her daughter, when one day a friend commented that she was lisping slightly. “I didn’t hear it initially,” says Michele.
But then she also noticed that there was a tingling in her face, so she went to the family doctor, and eventually on to two different neurologists who did a variety of tests – all of which were negative. However, she continued to see the second neurologist as additional symptoms presented themselves.
Finally, one day in April 2008, she felt a pulsating sensation in her tongue and was referred to a specialist at UC Irvine. The elder of her two daughters, Jessica, went with her to the appointment, and it was there that they received the diagnosis of ALS.
Commonly known as “Lou Gehrig’s Disease,” ALS is a progressive neurodegenerative disease that affects nerve cells, or motor neurons, in the brain and spinal cord. These motor neurons send signals from the brain to the spinal cord and from the spinal cord to muscles throughout the body, controlling voluntary movements and muscle power. When they degenerate, and eventually die, the brain is unable to control voluntary movements. As a result, paralysis of the arms and legs often sets in. Some patients with ALS also experience difficulty in swallowing, talking or even breathing.
“By the time I actually heard the diagnosis, I was not surprised,” says Michele, whose younger sister had previously died of multiple sclerosis, a chronic and often disabling disease that attacks the central nervous system.
“I definitely knew what ALS was, but it took a while for the news to soak in,” she remembers. “I knew it was terrible and that it was deadly, but I didn’t know the specifics of it – the way it affects the patient, the lungs, the mobility, the speech and swallowing. I’ve learned a lot along the way.” Initially in shock at the diagnosis, it didn’t take long for Michele and her family to go into action --- gaining additional knowledge and making plans. For example, knowing the course the disease was likely to take, and anticipating Michele’s need for help with day-to-day tasks as the ALS progresses, her younger daughter, Jacqueline, and her husband moved Michele into their home.
Although she still works full-time and even plays golf on Sundays, communicating is becoming increasingly difficult. “When I’m out and about and when I’m at work, I mainly use a white board,” she explains. Similar to a miniature, portable chalkboard, the white board enables the user to communicate by using dry erase markers which can be easily erased and the writing space re-used.
“I carry one that is about 14” x 7” in my purse with a magnetic dry erase marker attached to it at all times,” says Michele. “I whip it out to ask directions, answer questions, order at a restaurant or talk to the doctor. If I’m just carrying on a conversation it can be too slow, but it’s better than nothing.”
When in group meetings, she uses a computer with a voice – which she says can be difficult to understand but for social communications, she relies on two relatively new communication tools. “I text and e-mail all the time,” she says. “Especially text – that’s how I keep in touch.”
Recently, she has noticed that her left foot is dragging a bit, and that her left leg is weaker than her right. Still, she tries to live as normal a life as possible. She sees her neurologist, Dr. Abirami Muthukumaran, at Cedars-Sinai’s ALS Clinic every three months for check-ups, noting that she found the clinic online. “Cedars-Sinai has such an incredible reputation,” she says. “When I was looking on the Internet and saw there was an ALS clinic there, I knew there was no other place to go.”
Michele’s biggest problem these days is getting enough to eat. Although her long-time significant other, John, brings her dinner every night, swallowing is becoming increasingly difficult, so she is having trouble maintaining her weight.
“I’m close to getting a ‘G-Tube,” she says, referring to a tube through which she will be fed a liquid diet when she can no longer swallow enough calories each day to sustain her.
Although there is no known cure for ALS, Michele hopes that one day, through research, there will be.
“The only thing I really follow is stem cell research,” she says. “I have an ALS acquaintance who went to Mexico for stem cell treatment, and there are many articles both here and in Europe that address what stem cells may mean for ALS.”
“Of course, we want a cure, and that takes research, which requires money,” she says. “In addition, we need more education, because educating will bring the money. I’m surprised at how many people don’t know what ALS is. . .they need to know about this killer and what it does,” she says.
“I think we may be on the right path.”
AboutClive Svendsen, Director of Cedars-Sinai Regenerative Medicine Institute, Receives Prestigious ALS Research Award from American Academy of Neurology
Clive Svendsen, Ph.D., director of the Cedars-Sinai Regenerative Medicine Institute, is the recipient of the 2010 American Academy of Neurology Sheila Essey Award for his research on ALS (amyotrophic lateral sclerosis).
The innovative research Svendsen and his team of scientists have focused on for eight years involves developing specifically-engineered stem cells that, when injected into spinal cords, stalls the degeneration of nerve cells. The specialized stem cells are manufactured to release a growth factor called glial-derived neurotrophic factor (GDNF) that has been shown to support the survival of dying motor neurons.
“I am constantly humbled by this tragic disease,” says Svendsen. “We all know how difficult ALS is to treat and we have a long way to go. This award will help us continue developing novel ex vivo gene therapy approaches where stem cells are used as both regenerative support cells and growth factor pumps for dying motor neurons. In particular we are close to completing work on a cell bank that will allow us to move ahead to clinical trials on humans, which may provide another step forward in the treatment of ALS.” Svendsen, who recently joined the Cedars-Sinai Regenerative Medicine Institute, is a prominent stem cell scientist whose groundbreaking research focuses on both modeling and treating neurodegenerative disorders such as ALS, Huntington’s disease and Parkinson’s disease. Prior to joining Cedars-Sinai, Svendsen served as professor and co-director of the University of Wisconsin Stem Cell and Regenerative Medicine Center and Director of the National Institutes of Health-funded Stem Cell Training Program. He is author of over 150 scientific publications, and senior editor of the Encyclopedia of Stem Cell Research. In December, Svendsen and the Cedars-Sinai Regenerative Medicine Institute received a $3.7 million National Institutes of Health grant to provide five leading laboratories with the adult stem cells to be used in the development of potential therapies to understand another fatal neurodegenerative condition Huntington’s disease.
The Cedars-Sinai Regenerative Medicine Institute brings together basic scientists with specialist clinicians, physician scientists and translational scientists across multiple medical specialties to translate fundamental stem cell studies to therapeutic regenerative medicine. The Institute is housed in new state-of-the-art laboratories designed for stem cell and regenerative medicine research. At the heart of the Institute is a specialized core facility for the production of pluripotent stem cells capable of making all tissues in the human body from adult human skin biopsies. Cells produced within the Institute will be used in a variety of Cedars-Sinai Medical research programs, currently focusing on understanding the causes of and finding treatments for diseases of the brain, heart, eye, liver, kidney, pancreas and skeletal structures, as well as cancer and metabolic disorders.
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