What better day to set up my team page for the ALS Walk? :) In loving memory of my mother, I present to y’all the first year for “Ronnie’s Rebels”. Any & all donations are wholeheartedly appreciated - All donations go to the ALS Association, which uses the money to fund research, treatments, & to help those who are currently battling the disease. ♥
“Every 90 minutes a person in this country is diagnosed with ALS and every 90 minutes another person will lose their battle against this disease. ALS occurs throughout the world with no racial, ethnic, or socioeconomic boundaries.
This crippling disease can strike anyone. Presently there is no known cause of the disease yet it still costs loved ones an average of $200,000 a year to provide the care ALS patients need. Help make a difference and donate or join the walk today.”
fucking awesomesauce!!! xD
Quality of life matters. It contributes to longevity. When you are facing a disease in which the most effective breakthrough to date extends lives a matter of months, these things matter. I am an extremely rational person. I have some sort of idea of what’s out there. But I know there are many reasons for hope. There is hope that the science will catch up. Right now I ride this disease out knowing that it could take over, and no doctors CURRENTLY could do anything about it. But that won’t always be the case. In 1990 there were 100 research papers published related to ALS. In 2000, there were about 400, and last year there were 1,400. Since the first discovery in 1993, researchers have uncovered more than 25 different genes that may cause the disease. There are increasing numbers of drug trials attempting to beat back the disease. ALS is one of the most promising fields for stem cell research. Two different teams are making huge progress. Phase I safety trials have already been completed, and Phase II trials will begin later this year. These are not hypotheticals. This is real science, with real implementations, with real cells, with real patients, real people, real families, giving real hope to me and my family. Ted Harada gives me hope. My hope is that I will see the day that if I’m willing to let them drill holes in my back and neck and let them inject cells into my spine that I can win. That this disease will switch from a ride to a fight. A fight that I and patients like me, families like mine, can win. I have been utterly impressed by the two ALS doctors I have seen. I know there are smart people working on a cure or a treatment, but I just wish there were more of them. Money helps. For instance, The ALS Association provides grants to post docs or investigators new to ALS working on promising lines of research. Hopefully this gets them addicted. Addicted to the idea of being the one who finds the AZT. The one who finds the chemo, the penicillin. The one who makes the discovery that means when the next guy who goes to the orthopedist, then the neurologist, then the neuromuscular specialist, the doctor will explain to him that he has ALS but as long as he is willing to fight, he can win.
He passed away at the age of 48 after the longest and hardest fight of his life - The ALS Association
This month is ALS awareness month. I took the opportunity to share my story and so did many others. In respect of those who are fighting for their lives, the families, the friends, and the ones we lost to this terrible disease you should take a moment to read and share these stories or donate. Do something to show your support for these amazing people.
A small group of elusive neurons in the brain’s cortex play a big role in ALS (amyotrophic lateral sclerosis), a swift and fatal neurodegenerative disease that paralyzes its victims. But the neurons have always been difficult to study because there are so few of them and they look so similar to…
Be curious. And however difficult life may seem, there is always something you can do, and succeed at. It matters that you don’t just give up.
—Stephen Hawking, speaking to ALS patients and clinicians at Cedars Sinai Medical Center in April (via adozi)
An investigational treatment for an inherited form of Lou Gehrig’s disease has passed an early phase clinical trial for safety, researchers at Washington University School of Medicine in St. Louis and Massachusetts General Hospital report.
The researchers have shown that the therapy produced no serious side effects in patients with the disease, also known as amyotrophic lateral sclerosis (ALS). The phase 1 trial’s results, available online in Lancet Neurology, also demonstrate that the drug was successfully introduced into the central nervous system.
The treatment uses a technique that shuts off the mutated gene that causes the disease. This approach had never been tested against a condition that damages nerve cells in the brain and spinal cord.
“These results let us move forward in the development of this treatment and also suggest that it’s time to think about applying this same approach to other mutated genes that cause central nervous system disorders,” says lead author Timothy Miller, MD, PhD, assistant professor of neurology at Washington University. “These could include some forms of Alzheimer’s disease, Parkinson’s disease, Huntington’s disease and other conditions.”
ALS destroys nerves that control muscles, gradually leading to paralysis and death. For treatment of the disease, the sole FDA-approved medication, Riluzole, has only a marginal effect.
Most cases of ALS are sporadic, but about 10 percent are linked to inherited mutations. Scientists have identified changes in 10 genes that can cause ALS and are still looking for others.
The study focused on a form of ALS caused by mutations in a gene called SOD1, which account for 2 percent of all ALS cases. Researchers have found more than 100 mutations in the SOD1 gene that cause ALS.
“At the molecular level, these mutations affect the properties of the SOD1 protein in a variety of ways, but they all lead to ALS,” says Miller, who is director of the Christopher Wells Hobler Lab for ALS Research at the Hope Center for Neurological Disorders at Washington University.
Rather than try to understand how each mutation causes ALS, Miller and his colleagues focused on blocking production of the SOD1 protein using a technique called antisense therapy.
To make a protein, cells have to copy the protein-building instructions from the gene. Antisense therapy blocks the cell from using these copies, allowing researchers to selectively silence individual genes.
“Antisense therapy has been considered and tested for a variety of disorders over the past several decades,” Miller says. “For example, the FDA recently approved an antisense therapy called Kynamro for familial hypercholesterolemia, an inherited condition that increases cholesterol levels in the blood.”
Miller and colleagues at the University of California-San Diego devised an antisense drug for SOD1 and successfully tested it in an animal model of the disease.
Merit Cudkowicz, MD, chief of neurology at Massachusetts General Hospital, was co-PI of the phase I clinical safety trial described in the new paper. Clinicians at Barnes-Jewish Hospital, Massachusetts General Hospital, Johns Hopkins Hospital and the Methodist Neurological Institute in Houston gave antisense therapy or a placebo to 21 patients with SOD1-related ALS. Treatment consisted of spinal infusions that lasted 11 hours.
The scientists found no significant difference between side effects in the control and treatment groups. Headache and back pain, both of which are often associated with spinal infusion, were among the most common side effects.
Immediately after the injections, the researchers took spinal fluid samples. This let them confirm the antisense drug was circulating in the spinal fluid of patients who received the treatment.
To treat SOD1-related ALS in the upcoming phase II trial, researchers will need to increase the dosage of the antisense drug. As the dose rises, they will watch to ensure that the therapy does not cause harmful inflammation or other side effects as it lowers SOD1 protein levels.
“All the information that we have so far suggests lowering SOD1 will be safe,” Miller says. “In fact, completely disabling SOD1 in mice seems to have little to no effect. We think it will be OK in patients, but we won’t know for sure until we’ve conducted further trials.”
The therapy may one day be helpful in the more common, noninherited forms of ALS, some of which may be linked to problems with the SOD1 protein.
“Before we can consider using this same therapy for sporadic ALS, we need more evidence that SOD1 is a major contributor to these forms of the disorder,” Miller says.
The trial was conducted with support from ISIS Pharmaceuticals, which co-owns a patent on the SOD1 antisense drug.
Fair enough in theory, but the bald truth is that Susan G. Komen for a Cure / pink ribbon campaign has been profitable for the foundation, the cause, and the companies who brand their products with said ribbon. Which i think is completely ridiculous, considering Only a very small percentage (will update later) die of breast cancer. If you catch it soon enough, it’s EXTREMELY rare that it can’t be cured. So, you’ve practically cured it.Can we work on a deadly disease now? Like 100% deadly? Not even saying it has to be ALS. Huntington’s is worse, and a few others. I’m just saying, there are better causes than breast cancer. Diseases that leave you a husk of yourself.
Seriously. I’ve been ranting exactly this to too many people for over a year now. (“All The Balls”) x)
My stepdads blog always puts my life into perspective.