Like the fog, ALS creeps in on little cat feet, you barely can tell it’s taken up residence in your motor neurons, the nerve cells that control voluntary muscle movement. Then one day, you get an odd twitch in your calf muscle or your ankle turns in or you throw the dog’s ball the wrong way. No big deal until it happens a couple more times or you unexplainably trip and fall. You go to the doctor, but a casual inspection finds nothing. About 40% of the victims of ALS are initially misdiagnosed as suffering from another condition. The disease puts on oversized eyebrows, a fake nose and glasses and is often mistaken for Groucho Marx. You begin to wonder if you’re going nuts.
Eventually you hire a better detective and he gives you the bad news. Stunned, you wobble home and turn on old tapes of Lou Gehrig, an early victim, retiring from baseball and telling a sold-out Yankee Stadium crowd he considers himself “the luckiest man on the face of the earth,” which he is not. Merit points to Lou for putting on a brave face, but he had no idea what he was in for. Nobody really knows until they sit inside a broken-down vehicle where none of the controls work.
Early symptoms can include difficulty with fine motor skills, muscle cramping and fatigue. As the disease progresses, it can affect speech, swallowing and breathing. Eventually, the walker morphs into a wheelchair and then a bed. Muscle weakness spreads to more parts of the body, muscles shrink from lack of use, dysphagia leads to weight loss and nutritional deficiencies. Weakening respiratory muscles cause shortness of breath and eventually require ventilation. Bouts of random laughing and crying can occur. The emotional baggage that comes with the disease wouldn’t fit in the cargo bay of an Airbus 380, mirroring the stages of intense grief---initial shock and denial followed by anger, bargaining and profound depression as individuals struggle to cope with the implications of a shortened lifespan and constant physical decline, all the while knowing The Lone Ranger will not be dramatically showing up with an antidote. Take how bad you think you might feel and multiply by 100. It’s the ultimate shitstorm. What did I do to deserve this?
“Incurable” Is A Frustrating Word
Okay, doc, I’ve got ALS---there must be something we can do. Sorry pal, it’s a long walk off a short pier. Nobody gets out alive. The lack of a cure stems from a complex interplay of factors, including the relative rarity of the disease, the diverse range of genetic and environmental factors that can contribute to its development and the difficulty in targeting the specific mechanisms of motor neuron degeneration. Despite more than 85 years of scientific struggling, there are still no drugs that can stop or reverse the progression of ALS. For bacterial infections, we’ve got antibiotics, for viruses we have medicines that reduce the viral load, for cancer we have surgery, chemotherapy or both in tandem. For Amyotrophic Lateral Sclerosis, we’ve got bupkus.
Terrible news, Doc, so how do we avoid getting it? Hard to say. Only about 15% of ALS cases are known to have a genetic origin. Most cases are sporadic with no known cause. Many researchers believe a combination of genetics and environmental factors are at play in both genetic and sporadic ALS, but there is still little understanding of how the two influence the onset of the disease.
Because of the modest numbers of people with the disease and a long, dreary history of failed research, Big Pharma has little interest in throwing big money at the problem, and make no mistake, solving enigmas like ALS has always required big money. Nonetheless, in her small backyard laboratory in tiny Fairfield, Florida, a stubborn scientist named Siobhan Ellison may have detected a ray of sunshine. Ellison, along with Dr. Robert Naviaux of San Diego State University and a small coterie of collaborators at Neurodegenerative Disease Research (NDR), a nonprofit, have recently finished an analysis of Naviaux’s metabolomics study in normal people and others with ALS. Metobolomics is the comprehensive study of small molecules known as metabolites within a biological system. It analyzes the complete set of metabolites (the metabolome) in cells, tissues or organisms, providing insights into the physiological state and biochemical activity. Essentially, it’s like taking a snapshot of all the chemical reactions happening within a biological system at a specific moment.
Dr. Naviaux’s new study illustrates that ALS leaves a metabolomic signature which clearly distinguishes between the two populations. The signature reveals biomarkers for disease and may predict a response to drugs or supplements which could be used to fight ALS. This signature can change in three months and thus be used to assess the impact any treatment is making. This is the first time such an advance in ALS research has occurred. Naviaux’s scientific paper on these remarkable findings will be published in the Fall. Until then, NDR is hard at work on an asset everyone can help with.
The Kit
A small young San Francisco company called iollo is using AI to analyze multimodal data to discover new biology in hours, work that typically takes teams of scientists years to process. iollo can measure 500+ molecules in your blood, determine where the train is edging off the track and give you a personalized action plan involving dietary, behavioral and therapeutic interventions to keep you on the straight and narrow. Think CBC test on steroids. Your CBC results usually measure from 10-30 markers, but none of the large collection of molecules called the metabolome. iollo captures imbalances in your blood that are relevant to your overall health and how fast you’re aging. Studying iollo’s results, Dr. Naviaux realized that utilizing this test could be invaluable to the team’s work. Individual biochemical reactions converge into a pattern leaving the ALS signature. The signature reveals biomarkers for disease and may predict a response to drugs or supplements which could be used to fight ALS, The signature can change in three months and be used to assess the impact of treatments.
Here’s where you come in. If you’re financially able and so inclined, Siobhan Ellison would like you to buy one of iollo’s tests ($359, and a second one in three months to measure your changes) and become a part of her new study. She doesn’t make a nickel on the deal but the information garnered is invaluable. We know it’s not cheap and it’s not for everybody. The objective is to sign up 200 people with ALS and another 200 who do not have the disease. Anyone who wants to assist but not participate personally in the study can help by purchasing kits for people with ALS.
The test uses an innovative collection device currently in use in studies at Stanford, Cornell and various pharmaceutical companies. Users of the the device report it to be relatively painless. The sample is collected in the comfort of your own home. The collection device contains a stabilizing substance that allows the dried sample to be returned without the need for refrigeration.
The iollo machine learning methods analyze your data and the results are then generated by comparing your personalized report to iollo’s database built from a curated list of peer-reviewed scientific research, domain knowledge from their team of scientists, previous testing and user feedback.
Participants in the study may be rewarded not only by the knowledge they are helping move forward research and an eventual cure for a truly heinous disease, but also by revelations in the testing results of their own personal health issues that may need attention and advice on how to proceed in correcting the problems. How often do you get a chance at a twofer? And if that’s not enough, the names of all testees will be placed in a hat and one winner picked out by our Prize Patrol. The lucky duck gets a visit from the iconic NDR Trio. Chuck LeMasters will come to your house and roll you a big one, Gina Hawkins will sing Stardust and Will Thacker will let you hold his snake.
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| Siobhan with Laura Benedetti in San Antonio. First we cure the horses, then we deal with the humans. |
Addenda
Please direct all requests for test kits or questions about the process to Siobhan Ellison at the email address below. Her operators are standing by.
That’s all, folks….
