In the U.S., orphan diseases are conditions impacting fewer than 200,000 people. There are more than 7,000 of these rare conditions affecting an estimated 30 million Americans — and more than 300 million people globally — and new diseases continue to be discovered. Most of them are inherited conditions caused by gene mutations, but some can be caused by environmental factors. These diseases may be serious and even life-threatening, and about half of them affect children.

Before the Orphan Drug Act was passed in 1983, not much research was done into treatments for rare diseases. But that law created financial incentives for pharmaceutical manufacturers, and since then, hundreds of orphan drugs have been developed. As of early 2020, the FDA had approved therapies for more than 800 rare diseases.

Still, much work remains to be done in this space. Many of these conditions can be difficult to diagnose, with people often experiencing symptoms for years before they receive a correct diagnosis.

AIS Health, a division of MMIT, recently spoke with Brandon Salke, Pharm.D., pharmacist-in-charge at Optime Care, Inc., a pharmacy, distribution and patient management organization focused on maximizing opportunities to treat rare diseases, about challenges people with rare diseases may face and how health care stakeholders can best support these patients.

AIS Health: What challenges do people with rare diseases face?

Salke: Rare disease patients face a much longer therapy journey because of their rare condition, beginning with obtaining an accurate diagnosis. Doctors typically have very few rare disease patients and are unfamiliar with most rare conditions.

Once the patient does obtain an accurate diagnosis, another challenge is finding the right specialty therapy for their needs. In most cases, there may be only one exclusive distributor of medications which treat rare diseases. Patients may also face potential insurance coverage issues, creating yet another barrier to care and delaying the start to therapy.

AIS Health: Could you please explain the diagnosis challenge in more detail?

Salke: Patients deal with considerable confusion around their symptoms and can go years without the correct diagnosis. This can mean a lot of frustration and heartbreak for patients and families. Also, many rare diseases exhibit symptoms that mimic more common diseases. The long diagnosis process involves the patient seeing several doctors and specialists and getting blood samples and MRIs that only rule out what the condition is not, without determining what it is. Beyond diagnosis, patients need additional resources and community support to help them throughout the remainder of their patient journey so they can experience successful outcomes.

AIS Health: What roles do the physician, specialist and pharmacist play in getting patients actively involved in their treatment?

Salke: Every clinical stakeholder takes responsibility for engaging the patient in their therapy. In turn, the patient can only get from the care program what they put into it. If they are lax about their therapy and don’t share information with the care team, then they may not experience optimal clinical outcomes.

For that reason, it’s important that there be a consistent message across all stakeholders about the patient’s involvement, which is critical in the specialty space. When all stakeholders are working together toward the same goal, communication is able to be streamlined for all parties involved so that every part of the process becomes more efficient in terms of obtaining prior authorization approvals, lab work needed and so forth. There should also be effective communication with health plans regarding clinical outcomes or other statistics so they can determine if the therapy is effective or not.

The overall goal is to ensure that the patient is compliant with their therapy. This entails keeping the patient actively involved and aware of the benefits of doing so for their health and well-being.

AIS Health: How can the care team better engage the patient?

Salke: They should ensure the patient has clear expectations about being onboarded at a specialty pharmacy, as well as with their treatment journey. This helps to ensure there is alignment as to everyone’s role in relation to follow-up and patient communication. Patient advocacy and support groups are also an excellent way to keep the patient engaged and informed about their treatment and to feel heard about what they are going through. Everything we’re discussing also includes caregiver engagement, where applicable.

AIS Health: How can this approach impact patient outcomes, both mentally and physically?

Salke: Someone with a rare disease will have a good idea if they are improving physically, which will lead to mental relief and less stress. Once they are in a patient-first care program, they will feel like they are in good hands, which takes a great deal of pressure and worry off of their shoulders. Patient-first care focuses on following up and monitoring patient progress and needs with consistent contact and reassessments based on key points in therapy.

AIS Health: What missteps might stakeholders make with rare disease patients, and what can they do differently?

Salke: One of the biggest missteps is the doctor will write a prescription, and the patient will take it to Walgreens or another retail pharmacy. And Walgreens says they can’t sell it, so the patient and their doctor may think the treatment is unavailable and that there is no option for care. For many specialty drugs for rare diseases, doctors can spend hours researching pharmacies which have access to specific treatments, which may only be available through limited distribution.

AIS Health: How can resistance to the patient-first mindset be overcome?

Salke: With patient-first, every decision has to be made based on how it will benefit the patient. For some this may take some adjustment or a different approach to health care. For example, in the case of a busy clinic or pharmacy filling a script, they may not have time to think about each and every individual patient who comes through the door. To adopt a patient-first approach, there has to be an understanding of each particular rare disease and the unique needs of the patient.

Additionally, what works for one patient population with a rare disease doesn’t automatically work for another patient population. Different groups of patients are impacted by culture and a host of other social determinants, which must be accounted for to achieve optimal care.

AIS Health: What are potential outcomes without a patient-first approach?

Salke: I suppose you’d see lower compliance and retention utilization, along with more nonadherence and less than optimal outcomes. Patients won’t feel as invested in their treatment. Let’s say they are only dealing with a retail pharmacy that treats them more like a quota than a person. Or their only contact with a health care professional for weeks might be a robocall about a medication delivery or pick up. Or the patient has to make a complicated call to get the medication, which deters them from remaining compliant.

When patients don’t feel like their needs are being met, it creates barriers to care. These are challenging to overcome once the patient has made up their mind.

AIS Health: What is the potential impact of this beyond patients?

Salke: This impacts their work productivity and leads to lower performance or absence from work, which affects employers. When they stop their medications and feel sicker, they won’t or can’t work. And their health care costs go up. So now we’re looking at increased costs to the payers. Also, the patient will be facing all that anxiety about their health, leading to exacerbations. It becomes this vicious cycle when patients don’t have the proper therapy for their rare disease. This is where companies need a specialty drug management partner with a patient-first approach to help overcome these challenges and ensure that plan members are getting the care and support they need.

For more information, contact Salke through Julianne Kearns at

by Angela Maas