The United States Food and Drug Administration (FDA) estimates that more than 30 million people living in the U.S. are affected by over 7,000 rare diseases. Many of these rare diseases do not have a known treatment, but there are therapy options for patients through specialty drugs. 

These specialty drugs usually have unique handling requirements, such as cold storage and transportation; therapy-specific administration, such as injection or infusion; and/or have complex intake regimens. 

That’s why it’s pivotal that specialty distributors do everything in their power to provide patients with the pharmaceutical logistic services necessary to ensure smooth delivery of critically needed and potentially life-saving specialty therapies.

What is a Rare Disease?

In the U.S., a rare disease — sometimes also referred to as an “orphan” disease — is a disease or condition that affects fewer than 200,000 people. As stated above, it’s estimated that around 30 million people in the U.S. have a rare disease, or roughly 10% of the nation’s total population. 

Rare diseases include conditions from chronic bleeding disorders (such as Von Willebrand disease), to muscle diseases (such as muscular dystrophy and ALS), to inflammatory bowel diseases (such as Crohn’s disease). 

Other nations may have different definitions of a rare disease. For example, the European Union (E.U.) defines a rare disease as, “one that affects no more than 1 person in 2,000.” Similar to the U.S., the E.U. estimates that there are between 6,000 and 8,000 rare diseases present among roughly 30 million E.U. residents, or a little less than 7% of the total E.U. population overall.

What are some of the challenges patients with rare diseases face?

Oregon State University (OSU) published a case study earlier this year that found people with rare diseases typically wait years for a proper diagnosis, must travel long distances for specialty care, and face high out-of-pocket health care expenses. 

Challenges that patients with rare diseases face include:

Extended Diagnostic Odysseys

According to Global Genes, a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases, patients with rare diseases endure “extended diagnostic odysseys” that, on average, last six to eight years. In fact, 16% of patients they surveyed waited more than 10 years to receive an accurate rare disease diagnosis.

This diagnostic time is usually greater for communities of color, rural communities, and other minority populations who face biases or lack access to testing, which can further increase time to diagnosis, length of clinical trials, and, ultimately, a patient’s timeline to receiving treatment.

Isolation & Stigma

If and when a patient finally does receive a diagnosis, they face a 95% probability that their disease does not have a single FDA-approved drug treatment, leaving patients to feel alone and isolated.

Though a rare disease may actually impact thousands, hundreds of thousands, or even millions of people globally — in fact, rare diseases impact more people than AIDS and cancer combined — a patient may be the only person in their city or state with an ultra rare or orphan disease. This feeling of isolation can be even more intense among patients who live in already underserved communities. 

Isolation may be felt in other ways, as well. Prior to the development of specialty drugs for chronic bleeding disorders (hemophilia), people with these diseases lived their lives in constant fear of cuts or bruises, a sign of internal bleeding. Children with blood clotting disorders were frequently prohibited from activities like riding bicycles, or participating in group sports, which are essential to children developing social skills and feeling included at their schools or in their communities. (Today, 50% of people affected by rare diseases are children, according to Global Genes.)

Reduced Confidence in Care

When a patient’s rare disease goes undiagnosed for years, that patient may begin to lack confidence in the healthcare system and the medical community at large. 

The OSU study found that patients often saw multiple providers in search of an accurate diagnosis: “38% saw two or three providers, 24% saw four or five providers and 5% saw more than 15 providers before being diagnosed.” 

The need to seek out many different providers may reduce a patients’ trust in the medical system, impacting their desire to continue seeking treatment, and may increase the likelihood that a patient’s overall mental and physical health is negatively impacted.

Extended Travel Times

Nearly half of patients who were surveyed in the OSU study reported needing to travel more than 60 miles to receive care for their rare disease. For patients with rare diseases who live in rural communities, travel times can be even more extensive. 

Moreover, after securing a diagnosis, patients in these communities — as well as those in communities that lack adequate access to specialty pharmacies and hospitals — face extended travel times to obtain the specialty therapies they require. 

Extensive travel times can be particularly burdensome for patients and their caregivers who must take time away from work to seek out diagnosis and treatment, adding an additional layer of financial burdens or concerns.

Lastly, a rare disease, whether diagnosed or not, can lead to more trips to the emergency room. It’s estimated that 3-10% of all hospitalizations, regardless of a patients’ ages, are related to a rare disease.

How are specialty distributors supporting patients with rare diseases?

The combination of these challenges add up. Patients with rare diseases report poor health-related quality of life, low patient satisfaction, and high levels of anxiety, depression, and health-related stigma.

At different points in a patients’ journey, medical providers, specialty pharmacies, specialty distributors, and drug manufacturers can help alleviate these challenges. Specialty distributors play a crucial role in ensuring patients receive the specialty medications they rely on for treatment of rare diseases.

Patient-Centric Distribution Approach

A patient-centric specialty distributor knows that every box, bottle, or vial of specialty medication has a patient’s name on it. That’s why it is critical that specialty distributors have the logistical capabilities and geographical reach to ensure timely delivery of specialty drugs. 

This is principally important when a new drug comes to market. By that point, a patient may have been waiting years for the approval of a treatment they urgently need. Specialty distributors can reduce or eliminate potential further delays by working across the supply chain to ensure logistics, inventory management, and patient support services are integrated, operating efficiently, and ready to launch upon a new specialty drug’s approval. 

Broad Distribution Reach

A specialty distributor’s reach is also important to supporting patients with rare diseases, especially those who live in rural communities or communities without adequate pharmacy or hospital coverage. Specialty distributors must have a sufficient number of distribution centers — locations from which the specialty drugs can be sourced and transported — that are geographically broad enough to provide rapid delivery across the country. 

A robust network of distribution centers is particularly vital for patients with rare diseases who rely on therapies that must be kept cold during storage and transport — known as “cold chain management” — or therapies that require doses to be administered in precise intervals.

Utilizing the Latest Technologies

Finally, specialty distributors are supporting patients with rare diseases by keeping up on the latest technologies in storage, inventory tracking, and delivery. Data-driven technologies that allow distributors to closely monitor their supply-chain inventory and maintain real-time tracking of specialty medication deliveries help reduce the likelihood of drug shortages and ensure that providers and patients know exactly when a specialty drug will arrive.

BioCareSD is proud to serve as a leader in specialty distribution for more than 40 years. We strive every day to deliver unparalleled service to our patients and partners and, most importantly, to provide patients across the country with fast and easy access to life-saving medications. 

 To learn more about partnering with BioCareSD, please contact us here.