Think back to the last time you had the flu. Most likely, you were diagnosed within a few hours. You took some medicine, got some rest and pretty soon, the flu was in the rearview mirror. Widening the lens to more complex diseases like cancer, time to diagnosis might be a few months depending on a number of factors including severity of symptoms, specialist referrals, and testing.  

But what if you had a disease that your doctor had not encountered before? What if you went to doctor after doctor, took tens or hundreds of tests only to have each turn up inconclusive? What if you spent hours scouring the internet, looking for any sign that someone else has experienced what you’re going through? And what if you received a diagnosis and treatment, but your symptoms didn’t resolve? You begin the cycle again. 

This is what the often long and frustrating path to diagnosis looks like for the approximately 30 million people in the US living with a rare disease, which according to the National Organization for Rare Disorders (NORD) is categorized as any disease affecting fewer than 200,000 in the United States.

Often challenging to diagnose, it takes an average of six years from symptom onset to an accurate diagnosis. The reasons may range from symptoms mimicking those of more common conditions, to incomplete knowledge of rare diseases, to lengthy delays to access specialists. 

But what happens when you begin to factor in the social determinants of health that compound a person’s ability to achieve equitable access to any kind of health care in the US, let alone for a disease that affects only a few thousand people? Think of it like walking through a maze with no map. 

Imagine a person from a disadvantaged or underserved community entering the maze at symptom onset to seek medical help but…

They live in a health care desert or rural area where the closest clinic or hospital is far from their home and transportation is a challenge. 

It’s an obstacle.

Once an appointment can be scheduled, gender or racial biases may contribute to their symptoms being trivialized or dismissed. 

Another obstacle. 

This cycle could repeat multiple times over months or years as symptoms persist or progress. 

More obstacles. 

If they do happen to get a referral to a specialist, they may not be able to take the necessary time off for appointments, tests, or treatments. Some could lose their job, which could mean loss of vital health insurance. 

All barriers to care.  

And maybe because of language or cultural barriers, or a lack of health literacy, they do not feel comfortable asking questions of their doctor or offering information that might help inform a diagnosis or treatment plan. 

Obstacle. 

Every patient’s journey is different, but the sad truth is that these — and many other — health inequities can delay an accurate diagnosis for years and prevent many individuals from having a fair and just opportunity to be as healthy as possible. Without addressing these systemic barriers, disadvantaged and underserved communities will continue to suffer, and it could be years before they make it out of the maze, if ever.  

That’s why Takeda is committed to activating meaningful change for rare disease communities. We are focused on reducing the burdens that people living with a rare disease can face on the path to diagnosis, including ways to help those who already face serious health inequities. 

We are proud of our many efforts to make tangible changes to access, education, and science. 

Expanding access

We supported Children’s National Hospital’s efforts to create the Rare Disease Clinical Activity Protocol (Rare-CAP) program, a first-of-its-kind system to develop, disseminate, and curate clinical trial protocols to help standardize processes around diagnosis and care. The platform hopes to break down barriers for researchers, clinicians, and patients by providing uniform standards of diagnosis and care where there are currently none.

We are also focused on addressing some of the access challenges in the system while advancing value-based care in the US. We have initiated partnerships and value-based agreements, over 12 to date, including some that have an emphasis on the total cost of care or shared risk beyond drug costs. Two of them are focused on rare diseases — hemophilia and hereditary angioedema (HAE). We are using data and insights generated from these agreements to improve treatment access and affordability for patients. 

We are investing in digital resources, such as our Short Bowel Syndrome (SBS) healthcare provider locator tool, that help patients identify specialists who have experience managing their rare disease — available locally or via telemedicine. 

Increasing education

Access is only part of the equation if a patient — or their loved ones — struggles to understand a diagnosis, ask questions, or explain it to others. That is why Takeda has undertaken a number of initiatives to create resources that meet patients where they are. 

Recognizing that significant portions of the population do not speak English as a first language, our bilingual community educators bridge an important gap. They connect with patients in the language they are most comfortable. For example, we engaged patients and their families exclusively in Spanish at Familia de Sangre, the largest Spanish language meeting in the bleeding disorders community.

We created storybooks that can help explain a child’s MPS II (or Hunter syndrome) and HAE to a sibling and non-clinical explainers for schools to better understand the disease and the needs of that child.

Focusing science

Finally, and most important to the rare community, innovative science and research must continue to look deeper into the impact that these rare and ultra-rare diseases have on patients. At Takeda, nearly 50 percent of our pipeline has orphan drug designation, which means that if approved, they could help target some of the rarest diseases affecting patients today. 

Takeda is also actively contributing to the larger industry goal of greater equity in clinical trial recruitment and has created a roadmap to focus and inform our efforts in clinical trial recruitment by partnering with clinical study sites to address operational barriers, verify whether goals reflect real-world data, and enhance the diversity of the investigative site staff. 

We are proud of our recently published white paper created in partnership with NORD, which delves into policy opportunities and makes recommendations for how leveraging such opportunities may reduce diagnostic barriers and advance health equity for the diverse group of individuals living with rare diseases. Our aim is to positively impact the path to diagnosis for the rare community and more broadly, we are equally committed to addressing health inequities that we believe could have an impact on all patients. 

We have a long journey ahead to realize our vision of health equity in the rare disease community and beyond, but it’s a worthwhile journey and it’s one we are deeply committed to in order to achieve our mission of better health and a brighter future for all. 

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