Living with ALS: Medical Gains Can’t Come Fast Enough

This is the third installment in a series a about Hollister Lindley, a 62-year-old resident of Richmond, Va., and how she is changing the way she lives after being diagnosed with amyotrophic lateral sclerosis, a fatal condition also known as Lou Gehrig’s disease. Read “Living with ALS” part one “One Day at a Time” and part two “Money Issues Need Care as Well.” See Lindley’s “Life in Pictures.”

BOSTON — Hollister Lindley literally left parts of herself behind after visiting Boston last year to participate in a clinical trial for amyotrophic lateral sclerosis, or ALS.

Some of her blood and spinal fluid were donated to research, and a 3-millimeter piece of skin tissue from her upper arm joined other skin biopsies from ALS patients at the Harvard Stem Cell Institute. There, scientists are placing the skin in petri dishes in an attempt to extract a type of cell called a fibroblast. The hope is to use the fibroblast to produce stem cells that can then be transformed into motor neurons.

This complex process, according to neurologist James Berry, might allow researchers to someday better understand differences between healthy motor neurons and the damaged motor neurons of Hollister and other ALS patients. Such an understanding might contribute to finding a cure for the fatal disease. But for now, the medical community has a more modest goal of finding an accurate and early way to diagnose ALS.

Advances in ALS research depend on clinical trials. Berry, who works at Massachusetts General Hospital, regularly interacts with some of the estimated 30,000 people living with ALS in the United States and their family members. It is a tough duty, as clinical trials can take years. If the trials produce gains in diagnosing and treating ALS, the benefits likely won’t be enjoyed by the ALS patients who provide Berry and other researchers their increasingly precious time as well as their bodily fluids and tissue samples.

Hollister volunteered for one of Berry’s clinical trials shortly after meeting him at an ALS Association advocates gathering in Washington, D.C. She also volunteered to take an experimental ALS drug for a clinical trial at the University of Virginia, where she receives her primary ALS care.

ALS patients, family members and other supporters regularly make the rounds of Washington politicians and medical heavyweights to raise awareness and advocate for research funding to combat the disease. They join the ranks of other passionate advocates seeking cures and better treatments for cancer, Alzheimer’s and other serious illnesses. Yet it seems to always boil down to money. There is never enough to go around and meet the demand. Efforts to raise money can sometimes seem like a celebrity reality show. Whose poster child will capture the attention of the funding gatekeepers?

During the advocates gathering in Washington, Berry spoke about clinical trials for ALS. “It can be a difficult talk to give,” he notes, explaining that patients, who have little time left, often want help now but don’t realize the years it takes to conduct research and drug trials.

Hollister went to Boston late last year to participate in research seeking to identify physical symptoms – or biomarkers – associated with ALS that can be identified at an early stage in the disease’s progression. While finding a cure for ALS remains the most visible research goal, Berry notes that patients’ lives could be extended and their discomforts eased through the development of earlier diagnostic tools.

“ALS is a disease for which we have no diagnostic test,” he says. “The path for making a diagnosis is to rule out every other cause.” In Hollister’s case, for example, roughly three years passed between when she began inexplicably dropping chopsticks during meals and her formal ALS diagnosis. During this period, she had multiple spinal surgeries and nerve procedures to deal with symptoms of the disease.

No one faults her care providers for their diligent efforts to improve her health. But the ability to make an earlier diagnosis for ALS patients could lead to earlier intervention that might improve the quality of their lives and even extend their life spans. For example, Berry says the drug Riluzole has been around for nearly 20 years. It has been shown to extend the lives of ALS patients for an average of three months, but only if it is taken during the early stages of the illness.

While there is no cure for ALS, Berry says scientists are learning about the disease at an increasing rate. “It’s astounding,” he says, rattling off a list of recent discoveries of new genes associated with ALS and related genetic trials, novel ways to grow and use stem cells to develop new insights into the disease, and new drugs.

The human immune system is also better understood, and researchers across the spectrum – including those studying neurological diseases such as Alzheimer’s, Parkinson’s, Huntington’s, ALS and other neurological disorders – are “coming together,” Berry explains. “Increasingly, there’s crosstalk among these different neurological diseases.”

In the meantime, treatments for the progressive effects of ALS continue to advance. Lawrence Phillips is director of the Richard R Dart ALS Clinic at the University of Virginia Health System, where Hollister is treated. He says ALS clinics throughout the country tend to offer similar care standards and are staffed by extensive teams.

At the University of Virginia clinic, the caregiving team for a patient includes a doctor, nurse, social worker, physical therapist, occupational therapist, respiratory therapist, speech-language therapist, a nutritionist and dietician, and an assistive technology specialist to help ALS patients with computer and related telecommunications needs and challenges.

As for the physical impact, respiratory complications and difficulty breathing eventually become serious issues for most ALS patients. “They become very afraid that they will feel increasingly short of breath or will choke to death,” Berry says. “And they think there’s nothing they can do, and I think that’s absolutely not true.”

He ticks off a long list of ALS effects that caregivers are able to help with, including excess saliva, diminished lung capacity, preventing falls (a major concern for ALS patients), loss of emotional control (another common consequence of neurological diseases) and mood disorders. There are also feeding and breathing challenges that may become life-threatening and can be dealt with using feeding tubes and even ventilators – intrusive therapies that can extend life but which not all patients can either tolerate or want.

In the end, Berry notes, the selfless contributions of ALS patients are the greatest asset in developing solutions that may help future patients. “The time course of this research doesn’t always fit with the time course of the disease,” he says.

Patients like Hollister display an altruism that he finds remarkable. “It’s the only way we’re going to be able to develop these biomarkers,” he says of his own research. “And I am overwhelmed by their generosity.”

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