Aug 19, 2015 at 09:30 AM

SB Independent - Ice Bucket Challenge: One Year Later

By Jos Cofio

Reprinted from the Santa Barbara Independent

SB Independent - Ice Bucket Challenge: One Year Later

Beyond ALS Nonprofit Founder Celebrates Progress

Story by Kelsey Knorp
Tuesday, August 18, 2015


As it turns out, those icily drenched social media users that filled news feeds across the nation last August have since provided a $100 million boost to the field of amyotrophic lateral sclerosis (ALS) research, and local resident José Cofiño hopes not to see the momentum stop there.

Known more commonly as Lou Gehrig’s disease, ALS causes progressive deterioration of the muscles, with symptoms such as weakness, atrophy, and paralysis that eventually lead to death. Cofiño was diagnosed after a bike ride, when his left leg collapsed under him upon dismount. The fit, historically healthy 53-year-old was shocked to discover such a deadly cause for the mishap. Currently, there is no cure for ALS, only symptomatic treatment. Upon visiting the Mayo Clinic for a second opinion, “you can see in their faces and their voices their frustration at giving a diagnosis for which there is no cure,” Cofiño said.

Beyond ALS in Santa Barbara and Beyond

Cofiño’s own nonprofit, Beyond ALS , has raised $200,000 for research. Though many generous donations come directly through the organization’s website, BeyondALS.org, Cofiño has recently explored additional fundraising tactics. He struck a deal with Santa Barbara Merchant Services that will kick 10% of fees charged for debit or credit transactions at participating vendors to Beyond ALS at no additional charge to the customer or merchant. He has also talked with local wineries about fundraising efforts this fall.

ALS TDI Precision Medicine Program

SB Independent - Ice Bucket Challenge: One Year Later
ALS Therapy Development Institute

Cofiño was the third participant to enroll in the ALS Therapy Development Institute’s (ALS TDI) Precision Medicine Program, a nationwide study focused on individual-based ALS treatment. The 100th participant enrolled in April, and by August that number had skyrocketed to over 300. Such high enrollment may not have been possible without the awareness and funds brought about by the Ice Bucket Challenge, Cofiño says. The initial study was only funded for 30 participants.

Though Cofiño received his diagnosis around three years ago, he waited to go public with Beyond ALS until June 2014. He wanted to wait before sharing the news with his aging mother, who has already suffered the loss of a husband and another son. Thanks to the ALS TDI study, he now knows that he is contending with a slow-progressing form of the disease known as sporadic ALS, which afflicts about 90 to 95 percent of patients. Familial ALS, caused by a hereditary genetic mutation, is only discovered in about five to 10 percent of cases.

ALS TDI specialists took a skin biopsy from Cofiño and other study participants to construct a “clean line of stem cells” unique to their individual manifestations of the disease. The doctors hope to grow new nerve and motor cells from the clean cells to combat the spread of each participant’s heterogeneous strain of ALS. “Instead of finding ‘one road fits all,’ the disease is so different for everybody that taking it down to the individual level makes a heck of a lot more sense,” Cofiño said.

Short Lives for ALS Patients

According to Cofiño, about 30,000 people in the United States are living with ALS at any given time. Don’t let the underwhelming statistic fool you, he warns; rapid death rates are what keep the figure relatively stagnant. Once a patient is diagnosed with ALS, he or she is usually expected to live only three to five more years. “We die pretty fast, you know, so it’s kind of this revolving door,” Cofiño said.

SB Independent - Ice Bucket Challenge: One Year Later
Jos Cofio

Whatever lies ahead, Cofiño remains hopeful for himself and his community. “ALS has given my life a lot more meaning,” he said. “It has given me the opportunity to reach out and impact people’s lives in a really positive way. If there’s a silver lining, that's it."

Posted in Living With ALS.