In 2015, when Mackenzie Boedicker, a bright, driven Northeastern junior, developed a cough that wouldn’t quit, she chalked it up to campus life and the cold New England air. Then she went home to Washington, D.C., for Thanksgiving break and was alarmed when she leaned over a bathroom sink and saw that she’d coughed up a tiny bit of blood. 

She lifted her phone, turned on the flashlight, and aimed the harsh white light at the back of her throat. She saw her tonsils — and a lump.

“I had a gut feeling something wasn’t right,” Mackenzie says.

The road to answers

What followed was 18 months of uncertainty. Over the next year and a half, she endured appointment after appointment with multiple doctors, including an ear, nose, and throat (ENT) specialist who was sure the cause was allergies. As the months ticked by, and her symptoms continued, each doctor’s visit left her with the same unease.

 “I finally said, ‘Enough is enough.’ I’m not satisfied with the answers I’m getting,” Mackenzie says. She sought another opinion. Then a biopsy.

The word arrived first, amyloidosis, before its meaning. “I had absolutely no idea what it was.” 

Amyloidosis is a rare, complex set of diseases caused by abnormal proteins that misfold and clump together to form amyloid deposits in tissues and organs. This buildup can lead to significant organ damage, threaten quality of life, and ultimately be fatal.

“I was just crushed. There aren’t really words to describe it. I hadn’t even graduated from college, and I was thinking about my parents and my brother going forward without me. It was an awful, awful feeling.”

– Mackenzie Boedicker

After discussing her doctor’s recommendation of either “watch and wait” or “start treatment” with her family, Mackenzie decided to begin treatment to quiet the abnormal plasma cells making the misfolded proteins. She then underwent an autologous stem cell transplant, a process that uses high‑dose chemotherapy to wipe out the disease and then returns her own previously collected stem cells to help her bone marrow recover. 

The treatment required weeks of careful monitoring and months of rebuilding strength. But the payoff was life‑changing: her disease went into remission, and she was able to turn her focus from surviving to helping others.

From patient to catalyst

While Mackenzie’s story is hopeful, it’s atypical. Amyloidosis, specifically light-chain (AL) amyloidosis, often presents in men ages 50 to 75, commonly when irreversible organ damage has already been well established. As a healthy 23-year-old with no organ involvement, Mackenzie quickly realized she didn’t fit the typical patient profile. 

And while her path to diagnosis felt long and frustrating, it was relatively short compared to the five years it takes on average for someone living with a rare disease to receive an accurate diagnosis. 

“As hard as it was, after I finished treatment, it dawned on me how unique my situation was with this disease. I almost had it easy compared to other patients with amyloidosis,” she says. “It’s what made me realize we needed to do something.”

She turned to her family, and together they founded Mackenzie’s Mission, a nonprofit dedicated to raising awareness and improving education about amyloidosis, with the goal of changing the disease trajectory by reducing the time to diagnosis. 

In collaboration with a fellow patient, they identified a gap in existing medical education and developed the Amyloidosis Speakers Bureau (ASB). The ASB provides trained patient speakers to visit medical, residency, and physician assistant programs to put a human face to a complex rare disease that’s often glossed over as part of medical training. Since 2019, they’ve delivered more than 450 presentations to over 25,000 current and future healthcare professionals who are and will be responsible for diagnosing and treating amyloidosis patients.

“These are the practitioners who will be on the front lines,” Mackenzie says. “Getting this disease diagnosed early is so important, and it’s one of the biggest challenges we currently face. We’ve made so many strides in terms of research, better understanding of this disease, and more treatment options for patients, but all of that is worthless if we can’t get the disease diagnosed in the first place.”

Scaling answers, accelerating diagnosis

Scott Weintraub shares Mackenzie’s focus. As head of the Alexion, AstraZeneca Rare Disease US Business, he understands how urgent it is to help people with rare diseases get the right diagnosis much faster.

“Alexion has been pioneering for the rare disease community for more than 30 years,” says Weintraub. “Over that time, we’ve seen how every day, week, and month without answers takes a toll. Reducing the time it takes to reach a rare disease diagnosis isn’t just a goal; it’s a responsibility we all share.”

Alexion works to create supportive healthcare environments for rare disease patients and is helping to improve experiences for those impacted through meaningful partnerships. In addition to partnering with organizations like Mackenzie’s Mission, Alexion is collaborating on practical solutions that speed time to diagnosis by scaling proven approaches and leveraging next-gen technologies, so more people can have an experience like Mackenzie’s.

“An earlier diagnosis cracks open a vital window for intervention before significant disease progression,” says Weintraub. “But we know we can’t do it alone. We’re grateful for the work of organizations like Mackenzie’s Mission and the collective impact we can have to make positive and lasting improvements in a patient’s journey.” 

The power of persistence 

Today, Mackenzie continues to be closely monitored, and her disease remains in control. Impassioned by her experience, she went on to become a physician assistant and now cares for patients at a local hospital, while momentum behind Mackenzie’s Mission continues to grow.

Mackenzie and her mother, Deb, share a goal to have a big enough impact that one day their work at Mackenzie’s Mission becomes obsolete. “The vision is to no longer be needed,” Deb says. Together, we can make that vision real for other rare diseases.

Back in 2015, trusting her gut opened a path to answers. But for too many patients, the answers are still missing. Action is needed from the entire healthcare ecosystem to build awareness and advance education on rare diseases. Such steps to faster diagnosis and earlier intervention can create more stories of remission ─ and hope. 

US/NP/0122 V1 12/2025