When Tamar Thompson's husband was diagnosed with prostate cancer, she knew better than most what tests and care he needed. As vice president and head of corporate affairs at Alexion, AstraZeneca's rare disease unit, Thompson knows the medical landscape well. And as a decorated officer in the U.S. Air Force, her husband was entitled to the best, most cutting-edge medical care.

Despite these advantages, Thompson still had to fight to get her husband the genetic testing she knew about.

"I had to fight for it. It wasn't offered upfront," she said. "I don't know if it would have been different if he wasn't African American. But I know that for him, I had to fight for a lot of things. Fortunately, I work in this field and know what to ask for. But I saw the gaps in the process."

Thompson even transferred her husband out of the local health system because she feared he wouldn't receive adequate care as a Black man.

These challenges—including lack of access, gaps in care, and subpar treatment quality at small or rural hospitals—are common healthcare experiences for people of color.

These challenges are also common for rare disease patients, and Thompson sees the parallels every day.

For example, she notes that some rare disease patients live in rural communities without access to academic medical centers, and so do minority patients.

"Black and brown patients often can't travel more than 50 to 75 miles from home," she said.

They also often face similar financial barriers.

"Rare disease patients may live on a single income, often because one person had to give up work to be a caregiver. That's very similar to some of the challenges we see in minority communities," she said.

These parallels are one reason Thompson was drawn to working with the rare disease community at Alexion.

A nontraditional career path

Alexion is a rare disease biopharmaceutical company that was acquired by AstraZeneca in July 2021. The company hasfive approved drugsto treat seven rare diseases, including the blockbuster first-in-class C5 complement inhibitor Soliris (which was oncethe most expensive drug in the U.S.) and the second-generation C5 complement inhibitor Ultomiris. Itspipelinealso includes potential medicines across more than six rare therapeutic areas, spanning hematology, neurology, cardiology, nephrology, bone metabolism, metabolic, and ophthalmology.

Thompson leads the company's government affairs, policy, and communications functions, working to amplify the voices and experiences of rare disease patients, advocate for necessary policy changes, create access opportunities for patients, and partner with rare disease organizations.

Before joining Alexion in 2019, she served as head of federal executive branch strategy and state government affairs at Bristol Myers Squibb. However, her path to healthcare policy has been quite nontraditional.

Initially, Thompson studied nursing but quickly realized it wasn't the right fit. "Sticking a needle in someone's arm and saying, 'Suck it up, honey'? That probably wasn't the best bedside manner," she said with a laugh.

Instead, she shifted her focus to healthcare administration and the revenue cycle side of healthcare, eventually moving into life sciences and policy advocacy. But it was her work at Bristol Myers Squibb that first exposed her to the rare disease community and showed her the parallels between the experiences of rare disease patients and the healthcare inequities faced by minority communities.

For example, she notes that rare disease patients often wait about five years for a diagnosis, and missed or delayed diagnoses are also common among minorities. Such diagnostic disparities are well documented in academic research acrossdementia、autism spectrum disorder、appendicitis、breast cancerand many other diseases.

Thompson says that health complaints in the Black community, especially among Black women, are often dismissed. In fact, one of her close relatives died from a disease that wasn't diagnosed in time.

So when the opportunity came to join Alexion and advocate for the rare disease community, she seized it.

"It felt very aligned with my family experience, with what I've seen in my community, so I was drawn to it," she said. "I've never looked back. I still love every minute of it and cherish the opportunity and privilege to find treatments for patients every day."

Rare disease progress

Now, as the U.S. marks the 40th anniversary of the Orphan Drug Act and Rare Disease Day later this month, Thompson is reflecting on the progress that has been made in rare disease treatment—and the work that still lies ahead.

"We can point to more than 500 unique therapies that have come through the pathway under the Orphan Drug Act," she said. "I think the Orphan Drug Act is really an example of how, when policy is done right, it can be an incentive and a driver for innovation and benefit a broad set of patients."

However, she has concerns about certain provisions in the newInflation Reduction Act(IRA), which she says could stifle future progress in rare disease research.

Although the National Organization for Rare Disorderscalled the IRA"an important step in helping to ensure that rare disease patients and their families have access to the comprehensive healthcare they need to survive and thrive," Thompson says its provisions undermine parts of the Orphan Drug Act.

Part of the IRA allows the Centers for Medicare & Medicaid Services (CMS) to negotiate prices for certain Medicare- and Medicaid-covered drugs and biologics. However, orphan drugs designated for "one rare disease or condition" are exempt from pricing, which could discourage companies from researching secondary or tertiary indications for their products.

"We have drugs that are used for multiple disease states: one therapy, but for multiple rare diseases. Under the IRA, we don't qualify for the exemption," Thompson said.

Still, she remains optimistic about the future of rare disease treatment and health equity for all patients.

"If you look at the industry pipeline, 40% of it is in rare disease by some definition. That's hopeful for a community with more than 7,000 distinct rare diseases and only about 5% with approved treatment options," she said. "If you tell me 40% of the pipeline is touching that, that in itself is a reason for excitement and enthusiasm. It means hope and promise."