When Melissa Gummert's mother started showing symptoms of Alzheimer's disease in her mid-40s, her family knew something wasn't right. After her mother and several other family members were diagnosed with Alzheimer’s at a young age, Melissa decided to be tested for a genetic mutation that causes early-onset dominantly inherited Alzheimer's disease (DIAD). This rare form of Alzheimer's leads to symptom onset before age 65, often in a person's 40s or 50s.
In 2019 she joined the DIAD registry, and in 2021 entered the cognitive run-in, allowing researchers to track her cognition and disease progression while preparing for any potential drug arms.
“I was quite certain from the beginning, when I found out my mom was sick and we knew it was genetic, that I wanted to know [if I carried the gene]. After I found out it was a rough blow. It affected me a lot, more than I thought it was going to because I thought I was prepared. So, there were a few months where it was pretty tricky navigating that. But working through it with loved ones helped a lot,” Melissa says.
“Now I'm to the point where I'm just thankful that I know so that I can participate, and I can hopefully help others and hopefully help my babies. So that's kind of my driving force because I think we're just so close to finding something that's at least going to give us a little more time.”
That’s why, in 2022, Melissa was thrilled when she was accepted into an experimental DIAD drug trial called DIAN-TU (Tau NexGen), involving a new tau tangle-targeting drug E2814, as well as a new anti-amyloid antibody drug called “lecanemab.” Lecanemab removes the amyloid plaques in the brain associated with the development of Alzheimer’s. The goal of the trial is to determine if treatment with these two drugs together can slow or even prevent the onset of the disease in people with the DIAD genetic mutation who already have evidence of plaques, but don’t yet have symptoms.
Since Melissa lives in Minnesota, where there aren’t any DIAD study sites nearby, she was able to choose the site to which she would travel to participate in the study. Melissa chose to participate in the Memory and Aging Program (MAP) at Butler Hospital in Rhode Island. Her choice was initially fueled by a desire to visit the coast, but she says the experience she’s had at MAP confirmed it was a great choice for many reasons.
“I chose the Rhode Island site, I think mostly because of the location initially,” she says. “I knew it was on the coast and that sounded like somewhere I wouldn’t mind traveling to. I’ve been there three times since entering the study in 2021, and it's been so great. Everyone there is so nice and just so friendly and welcoming. It’s been a good experience, for sure.”
Melissa travels to Rhode Island once a year for a full study-related medical evaluation. She can participate in the rest of the study’s required activities through home visits in Minnesota, including receiving infusions of either E2814 or a placebo, as well as active lecanemab (all DIAN-TU NexGen participants receive active lecanemab), twice-yearly cognitive evaluations, and other physical evaluations.
She hopes the trial will be successful in giving her precious extra years of healthy cognition to spend with her husband and children, and that her involvement will move the needle toward effective Alzheimer's treatments for others, including her own family.
"Saving my babies is obviously a concern," Melissa said. "I'm concerned about their mental health and the longevity of their lives."
At just 41 years old, Melissa feels a sense of purpose being on the front lines in the war against Alzheimer's – and a very personal sense of urgency.
“With my mom and my aunt and uncle, the age of onset was around the mid-40s for all of them, and then they all passed between the ages of 51 and 57,” she says.
Like the other DIAN trial participants, she's putting her faith in science to spare her children and others from this cruel disease.
"I think we're the pioneers and this is going to be something great," she said. "I'm hopeful that we're onto something that's going to help hundreds, thousands or millions of people."
Melissa's optimism and sacrifice exemplify the resilience of DIAD families. They know Alzheimer's all too well, yet steadfastly confront their fate through research. Each infusion represents hope for a future free of Alzheimer's - hope that science and human perseverance will prevail.
Learn more about the Alzheimer’s Prevention Registry by visiting: https://www.butler.org/memory/registry.
Disclaimer: The content in this blog is for informational and educational purposes only and should not serve as medical advice, consultation, or diagnosis. If you have a medical concern, please consult your healthcare provider, or seek immediate medical treatment.