Passionately fundraising for a one-in-a-million illness

After their loved one passed away from Creutzfeldt-Jakob Disease, this group banded together to raise money for the rare disease.

Adrianna MacPherson - 9 October 2020

Sabrina Lauman was just 34 when her family began noticing that she was becoming increasingly forgetful, even struggling to remember the names for things as commonplace as a stove. Given her age, dementia certainly wasn’t the first thing that came into her family members’ minds—instead, they thought the new mom might be experiencing some type of postpartum mental health issue. She eventually ended up going for further testing including an MRI, and during her second trimester of pregnancy, she was diagnosed with Creutzfeldt-Jakob Disease (CJD), an extremely rare and fatal form of dementia. 

One in a million

Individuals with CJD are essentially the unlucky one in a million, explains Valerie Sim, an associate professor in the Division of Neurology whose work focuses on prion diseases such as CJD. The devastating disease progresses extremely rapidly, and the average life expectancy from first symptom to death is roughly four to six months. 

Lauman’s last few months were spent in the hospital, and her cousin Eryn Gushulak remembers that her room was constantly bustling with family. “Her family’s Italian, so there were always a million people there. They [the staff at the Royal Alex] were so kind, we would order pizza in her room and had a Christmas tree because she loved Christmas,” Gushulak says. Lauman was eventually able to give birth to her daughter Stella via a scheduled C-section, and passed away four weeks after the delivery, leaving behind her newborn as well as her then two-year-old daughter Scarlett.

Prior to her death, a group of Lauman’s loved ones banded together to throw a fundraising event to help Lauman’s husband, who became a widow at just 30, and their young daughters. The group includes Gushulak as well as Lauman’s cousins Stephanie Hay and Sarah Kmiech, Lauman’s sister Marie Alba, her sister-in-law Lisa Solura, and friends Kira Ogar and Katie Wojtowicz.

After her death, the group, who operate under the name End CJD, decided to continue their efforts with an annual fundraiser for CJD research being done in Sim’s lab. The first event brought in nearly $25,000, and this year, despite restrictions put in place by COVID-19, the group took their efforts online to continue raising both money and awareness for the cause they’re passionate about. Through bottle drives and donations this year, they raised over $4,500, and are planning on holding an Instagram “garage sale” later in the year.

“We just wanted to help anybody who was struggling with this illness. We want it to go away so nobody else has to suffer through what we did,” Gushulak says. “We want to bring education and awareness, in memory of Sabrina.”

Understanding protein misfolding

According to Sim, a member of the Neuroscience and Mental Health Institute (NMHI), the majority of human prion diseases happen spontaneously. Prion proteins are a normal part of the brain, and when they’re functioning correctly, all is well. The trouble arises when they begin to fold in abnormal ways. 

“As soon as it [the prion protein] folds into the wrong shape, it is able to convert its neighbour prion protein into the wrong shape, and this ‘shape shifting’ spreads through the brain like dominoes,” Sim says. “As these prion proteins change shape, they start to clump and stick together and ultimately they damage and destroy the brain.”

The efficiency of the spreading is exactly what makes CJD so deadly—and what makes it an ideal model for other diseases that arise through issues with abnormal folding. Illnesses such as Alzheimer’s and Parkinson’s are both caused by particular proteins that are misfolded and then spread. There are no true treatments for any of them, only ways to manage symptoms. 

Lauman’s family decided to donate her brain to Sim’s lab, a gift that Sim says is crucial for advances in understanding the rare disease. The donation means that Sim and her lab are able to examine actual human prions to get a better understanding of how the disease works. Different therapeutics and drugs can be tested on the prions to see if anything is effective at slowing the spread. 

More knowledge about how prion proteins misfold has already led to more knowledge about all protein folding disorders, making CJD a starting point for understanding a much wider group of diseases. “It is through the study of often quite rare diseases that we have the most to learn about how biology works in general,” Sim says. 

The impact of advocates

Families such as Lauman’s, who passionately advocate for a cause, help researchers in numerous ways. As Sim states, any donation is extremely beneficial for a lab, from a few dollars to buy pipette tips to the tens of thousands needed to train students and research employees. However, she says, just as valuable as the money that keeps the lab running is simply support from individuals who believe in the work researchers are doing.

“Being a researcher is a privilege and is incredibly rewarding, but is also incredibly challenging. Most of the things that we try don’t work. Most of the grants that we write for money fail. We are always in a state of trying to fight for our cause and fight for an answer to what’s going on,” says Sim. “It’s so valuable to know there are people out there who support that. I’ve received cards from people, patients or family members, just with a supportive thank you for what you’re doing, and I cannot emphasize how much that means to me.”

“I have all those cards in my office and it’s inspiring and it’s humbling to have that support behind me and my colleagues. It feels like we are on the right track and that we shouldn’t give up.” 

Those interested in supporting this cause can connect with the group on Instagram at @endcjd for more information about their fundraising efforts, or visit The Canadian CJD Association website.